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Angaben zur Quelle [Bearbeiten]

Autor     Eleni Katzaki
Titel    Clinical Impact of Contemporary Molecular Cytogenetics
Ort    Siena
Jahr    2009
Anmerkung    University of Siena Ph.D in Medical Genetics
URL    http://www3.unisi.it/ricerca/dottorationweb/genetica_medica/Tesi/Katzaki%20PhD%20Thesis.pdf
Webcite    https://web.archive.org/web/20160207152104/http://www3.unisi.it/ricerca/dottorationweb/genetica_medica/Tesi/Katzaki%20PhD%20Thesis.pdf

Literaturverz.   

no
Fußnoten    no
Fragmente    10


Fragmente der Quelle:
[1.] Mmu/Fragment 004 07 - Diskussion
Zuletzt bearbeitet: 2016-02-06 20:32:27 Schumann
Fragment, Gesichtet, Katzaki 2009, Mmu, SMWFragment, Schutzlevel sysop, Verschleierung

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However, even high resolution karyotypes (Yunis 1976) are enable [sic] to detect many known microdeletion syndromes, which range from 3-5 Mb in size, and cannot detect smaller aberrations. In the 1990s the introduction of molecular cytogenetic techniques into the clinical laboratory setting represented a major advance in the ability to detect known syndromes and identify chromosomal rearrangements of unknown origin. Fluorescent in situ hybridization (FISH), which is the annealing of fluorescently labelled locus-specific probes to their complementary sequences in the genome, allowed for the detection of specific microdeletion syndromes (Trask 1991) (Fig.1b1-b2).

78. Trask BJ: Fluorescence in situ hybridization: applications in cytogenetics and gene mapping. Trends Genet 1991; 7: 149-154.

88. Yunis J: High resolution of human chromosomes. Science 1976; 191: 1268-1270.

[Page 15]

However, even high resolution karyotypes4 are unreliable for detecting many known microdeletion syndromes, which range from 3-5 Mb in size, and cannot detect smaller aberrations.

[Page 16]

In the 1990s the introduction of molecular cytogenetic techniques into the clinical laboratory setting represented a major advance in the ability to detect known syndromes and identify chromosomal rearrangements of unknown origin. Fluorescence in situ hybridization (FISH), which is the annealing of fluorescently labelled locus-specific probes to their complimentary [sic] sequences in the genome, allowed the detection of specific microdeletion syndromes (Fig. 2).5


4 Yunis J: High resolution of human chromosomes. Science 1976; 191: 1268-1270.

5 Trask BJ: Fluorescence in situ hybridization: applications in cytogenetics and gene mapping. Trends Genet 1991; 7: 149-154.

Anmerkungen

Nothing has been marked as a citation.

Sichter
(Graf Isolan), SleepyHollow02

[2.] Mmu/Fragment 006 13 - Diskussion
Zuletzt bearbeitet: 2014-12-22 15:35:29 Hindemith
Fragment, Gesichtet, Katzaki 2009, KomplettPlagiat, Mmu, SMWFragment, Schutzlevel sysop

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This method is very useful for determining the origin of unknown genetic material, such as SMCs and other unbalanced rearrangements. However, CGH does not detect balanced rearrangements, the resolution is on the order of 5–10 Mb and consequently many genomic disorders cannot be detected (Yunis 1976). The need to screen the whole genome at a resolution that surpassed the existing technologies led to the implementation of microarray based CGH. The principle is very similar to that employed for traditional CGH, where two differentially labelled specimens are cohybridized in the presence of Cot1 DNA (Fig.2).

88. Yunis J: High resolution of human chromosomes. Science 1976; 191: 1268-1270.

[Page 16]

This method allows the investigation of the whole genome and is very useful for determining the origin of unknown genetic material, such as SMCs and other unbalanced rearrangements.5 However, CGH does not detect balanced rearrangements, and the resolution is on the order of 5–10Mb, and consequently many genomic disorders cannot be detected.3

[Page 18]

The need to screen the whole genome at a resolution that surpassed the existing technologies led to the implementation of microarray based CGH. The principle is very similar to that employed for traditional CGH, where two differentially labeled specimens are cohybridized in the presence of Cot1 DNA; however, instead of metaphase spreads, the hybridization targets are DNA substrates immobilized on a glass slide.5-7


3 Edelmann L, Hirschhorn K: Clinical utility of array CGH for the detection of chromosomal imbalances associated with mental retardation and multiple congenital anomalies. Ann N Y Acad Sci 2009; 1151: 157-166.

4 Yunis J: High resolution of human chromosomes. Science 1976; 191: 1268-1270.

5 Trask BJ: Fluorescence in situ hybridization: applications in cytogenetics and gene mapping. Trends Genet 1991; 7: 149-154.

6 Pinkel D, Segraves R, Sudar D et al: High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays. Nat Genet 1998; 20: 207-211.

7 Cai WW, Mao JH, Chow CW, Damani S, Balmain A, Bradley A: Genome-wide detection of chromosomal imbalances in tumors using BAC microarrays. Nat Biotechnol 2002; 20: 393-396.

Anmerkungen

Nothing has been marked as a citation. The wrong reference in Mmu can be found in Katzaki's list of references right behind the correct one.

Sichter
(Graf Isolan), SleepyHollow02

[3.] Mmu/Fragment 031 16 - Diskussion
Zuletzt bearbeitet: 2014-12-17 18:25:50 Singulus
Fragment, Gesichtet, Katzaki 2009, KomplettPlagiat, Mmu, SMWFragment, Schutzlevel sysop

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The known 9p deletion syndrome was first described by Alfi et al. in 1973 [15]. This is an heterogeneous condition with variable deletion size characterized by ID, congenital malformations including trigonocephaly, congenital heart defect, anorectal and genital anomalies and dysmorphisms [16-19]. The critical region for the 9p deletion syndrome has been located between bands p22.3 and p24.1 [19]. The deletions of the more terminal part of chromosome 9p are rarer and some of them coexist in the same patient together with larger rearrangements in other chromosomes [20, 14, 21, 22]. Patients with deletions involving the 9p24.3 band show male to female sex reversal, possibly due to DMRT1 and DMRT2 haploinsufficiency [23, 24].

[14] Kohler A, Hain J, Muller U. (1994) Familial half cryptic translocation t(9;17). J Med Genet 31:712-4

[15] Alfi O, Donnell G N, Crandall B F, Derencsenyi A, Menon R. (1973) Deletion of the short arm of chromosome no.9 (46,9p-): a new deletion syndrome. Ann Genet 16:17-22

[16] Christ L A, Crowe C A, Micale M A, Conroy J M, Schwartz S. (1999) Chromosome breakage hotspots and delineation of the critical region for the 9pdeletion syndrome. Am J Hum Genet 65:1387-95

[17] Hauge X, Raca G, Cooper S, May K, Spiro R, Adam M, Martin C L. (2008) Detailed characterization of, and clinical correlations in, 10 patients with distal deletions of chromosome 9p. Genet Med 10:599-611

[18] Huret J L, Leonard C, Forestier B, Rethore M O, Lejeune J. (1988) Eleven new cases of del(9p) and features from 80 cases. J Med Genet 25:741-9

[19] Swinkels M E, Simons A, Smeets D F, Vissers L E, Veltman J A, Pfundt R, de Vries B B, Faas B H, Schrander-Stumpel C T, McCann E, Sweeney E, May P, et al. (2008) Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype. Am J Med Genet A 146A:1430-8

[20] Brisset S, Kasakyan S, L'Hermine A C, Mairovitz V, Gautier E, Aubry M C, Benkhalifa M, Tachdjian G. (2006) De novo monosomy 9p24.3-pter and trisomy 17q24.3-qter characterised by microarray comparative genomic hybridisation in a fetus with an increased nuchal translucency. Prenat Diagn 26:206-13

[21] Repetto G M, Wagstaff J, Korf B R, Knoll J H. (1998) Complex familial rearrangement of chromosome 9p24.3 detected by FISH. Am J Med Genet 76:306-9

[22] Saha K, Lloyd I C, Russell-Eggitt I M, Taylor D S. (2007) Chromosomal abnormalities and glaucoma: a case of congenital glaucoma associated with 9p deletion syndrome. Ophthalmic Genet 28:69-72

[23] Barbaro M, Balsamo A, Anderlid B M, Myhre A G, Gennari M, Nicoletti A, Pittalis M C, Oscarson M, Wedell A. (2009) Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA. Eur J Hum Genet 17:1439-47

[24] Muroya K, Okuyama T, Goishi K, Ogiso Y, Fukuda S, Kameyama J, Sato H, Suzuki Y, Terasaki H, Gomyo H, Wakui K, Fukushima Y, Ogata T. (2000) Sex-determining gene(s) on distal 9p: clinical and molecular studies in six cases. J Clin Endocrinol Metab 85:3094-100

A well known 9p deletion syndrome was first described by Alfi et al. in 1973 [Alfi et al. 1973]. This is an heterogeneous condition with variable deletion size characterized by mental retardation, congenital malformations including trigonocephaly, congenital heart defect, anorectal and genital anomalies and dysmorphisms [Huret et al 1988, Christ et al 1999, Hauge et al 2008, Swinkels et al. 2008]. The critical region for the deletion 9p deletion syndrome has been located between bands p22.3 and p24.1 [Swinkels et al. 2008]. The deletions of the more terminal part of chromosome 9p are rarer and some of them coexist in the same patient together with larger rearrangements in other chromosomes [Saha et al. 2007, Brisset et al. 2006, Repetto et al. 1998]. Patients with deletions involving the 9p24.3 band show male to female sex reversal, possibly due to DMRT1 and DMRT2 haploinsufficiency [Muroya et al. 2000, Barbaro et al. 2009].

---

• Alfi O, Donnell GN, Crandall BF, Derencsenyi A, Menon R. Deletion of the short arm of chomosome no.9 (46,9p-): a new deletion syndrome. Ann Genet. 1973 Mar;16(1):17-22.

• Huret JL, Leonard C, Forestier B, Rethoré MO, Lejeune J. Eleven new cases of del(9p) and features from 80 cases. J Med Genet. 1988 Nov;25(11):741-9.

• Muroya K, Okuyama T, Goishi K, Ogiso Y, Fukuda S, Kameyama J, Sato H, Suzuki Y, Terasaki H, Gomyo H, Wakui K, Fukushima Y, Ogata T. Sex-determining gene(s) on distal 9p: clinical and molecular studies in six cases. J. Clin. Endocr. Metab. 85: 3094-3100, 2000.

• Swinkels ME, Simons A, Smeets DF, Vissers LE, Veltman JA, Pfundt R, de Vries BB, Faas BH, Schrander- Stumpel CT, McCann E, Sweeney E, May P, Draaisma JM, Knoers NV, van Kessel AG, van Ravenswaaij-Arts CM. Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype. Am J Med Genet A. 2008 Jun 1;146A(11):1430-8.

Anmerkungen

Nothing has been marked as a citation.

References for Christ et al 1999, Hauge et al 2008, Saha et al. 2007, Brisset et al. 2006, and Barbaro et al. 2009 are missing in Katzaki (2009).

Sichter
(Graf Isolan) Singulus

[4.] Mmu/Fragment 033 06 - Diskussion
Zuletzt bearbeitet: 2014-12-22 15:35:37 Hindemith
Fragment, Gesichtet, Katzaki 2009, Mmu, SMWFragment, Schutzlevel sysop, Verschleierung

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Patient 2 is a 15 years and 4 months old girl, the second child of healthy unrelated parents (Fig.1c and Table 1). The mother had two spontaneous miscarriages in the first month of gestation. At the time of her birth, Patient 2’s mother and father were 26 and 29 years old, respectively. The proband had a healthy older brother and two maternal cousins referred with psychomotor delay (not available for testing). The girl was born after a prolonged labour at term of an uneventful pregnancy. At birth, weight was 3300 gr (50th percentile) and length was 51 cm (50-75th percentile). Apgar score and OFC measurements were not available. A pale haemangioma of the forehead was observed. Patient 2 showed developmental delay: she began to sit alone at 1.5 year, crawled at 2 years, began to walk independently at 2.5 years, and said the first words at 5 years. She never acquired sphincter control and frequently suffered from respiratory infections during childhood. At 4 years the patient was surgically treated for strabismus. A radiological examination of skeletal development of the left-hand wrist showed mild bone-age delay (chronological age 5 years and 8 months, bone-age corresponding to 5 years and 1 month). A radiological survey of hands and feet performed at 11 years and 6 months showed aplasia of a phalanx of the fifth finger of both feet and a medial notch of the second phalanx of II finger of the left hand. Repeated EEGs were alternatively normal or showed a mild disorganization of the deep rhythm. Results of ophtalmological evaluation were normal except for mild myopia (-1.25/-1.50 diopters). A pelvic ultrasound showed mild irregularities of the morphology of the uterus. The following investigations were normal: abdominal and cardiac ultrasound, brain MRI and karyotype. Physical examination of Patient 2 at 11y1m (Fig.1d) demonstrated normal height (145 cm; 25-50th percentile) and weight (40 kg; 50-75th percentile), microcephaly (OFC of 48 cm; <<3rd percentile), triangular face, with pointed chin, synophrys, thickening in the medial part and V-shaped eyebrows, open mouth, high and narrow palate, and hypoplastic 5th toe, more evident on the right side. The patient showed ataxic gait, rocking of the trunk in upright position, unmotivated laughter and sialorrhea. [Page 70]

Clinical Report

The patient, an 11 years and 6 months old girl, is the second child of healthy unrelated parents. The mother had two spontaneous abortions in the first month of gestation (Fig.1 a). At birth, mother and father were 26 and 29 years old, respectively. The proband has a healthy older son and two maternal cousins referred with psychomotor delay probably due to perinatal distress.

The girl was born after a prolonged labour at the end of an uneventful pregnancy. At birth, weight was 3300 gr (50th percentile) and length was 51 cm (50-75th percentile). Apgar scores and head circumference (OFC) measurements are not available. A pale haemangioma of the forehead was noticed. At 2 months of life the mother realized that the baby was not normally interactive. She showed developmental delay: she began to sit alone at 1.5 year, she crawled at 2 years, she began to walk independently at 2.5 years, she said the first words at 5 years and she has never acquired sphinteric control. She frequently suffered from respiratory infections during childhood. At 4 years she was surgically treated for strabismus.

An X-ray of the wrist of the proband performed at 5 years and 8 months showed mild bone-age delay (bone-age corresponding to 5 years and 1 month). An X-ray of the feet performed at 7 years and 5 months showed bilateral absence of the middle or distal phalanx of the 5th toe. An X-ray of the left hand pointed out the presence of a medial incisura in the distal metaphysis of the second phalanx of the second finger, while no abnormalities were found in the right hand. A pelvic ultrasound showed mild irregularities of the morphology of the uterus. Repeted EEGs were alternatively normal or showed a mild disorganization of the deep rhythm. Oftalmological [sic] examination resulted normal except for mild myopia (-1,25/- 1,50 diopters). The following investigations were normal: abdominal and cardiac ultrasounds, brain MRI, karyotype,

[Page 71]

FISH analysis for Rubinstein-Taiby syndrome and for Angelman syndrome.

She was first admitted to our genetic unit at the age of 11 years and 1 month. Physical examination showed: normal height (145 cm; 25-50th percentile) and weight (40 kg; 50-75th percentile), microcephaly (OFC of 48 cm; <<3rd percentile), triangular face, with pointed chin, synophrys, thick eyebrows in the medial part, open mouth, high and narrow palate and hypoplastic 5th toe of the feet, more evident on the right side (Fig.1b). The patient showed ataxic gait and rocking of the trunk in upright position.

Anmerkungen

Nothing has been marked as a citation.

The original text is part of an article which is included in Katzaki's thesis. The patient described here is obviously the same (albeit now several years older). Mmu was not one of the coauthors of the original article. There is no hint given that this description is not Mmu's own. Neither is there a hint given that this patient's genetic material has been analyzed in a different context before.

Sichter
(Graf Isolan), SleepyHollow02

[5.] Mmu/Fragment 034 01 - Diskussion
Zuletzt bearbeitet: 2014-12-22 15:35:33 Hindemith
Fragment, Gesichtet, Katzaki 2009, Mmu, SMWFragment, Schutzlevel sysop, Verschleierung

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[At the] time of our examination Patient 2 had just begun to formulate sentences, always spoke to catch attention, displayed hyperactivity, and brought all objects to to her mouth. Patient 2’s mother exhibited isolated microcephaly (OFC 52 cm, <3rd percentile) and normal height (169 cm; 75-90th percentile). At the time of our examination she had just begun to formulate sentences, she was always speaking to catch attention, she showed hyperactivity and she used to bring everything to the mouth. Her mother showed isolated microcephaly (OFC 52 cm, <3rd percentile) and normal height (169 cm; 75-90th percentile).
Anmerkungen

Continued from previous page. Nothing has been marked as a citation.

The original text is part of an article which is included in Katzaki's thesis. The patient described here is obviously the same (albeit now several years older). Mmu was not one of the coauthors of the original article. There is no hint given that this description is not Mmu's own. Neither is there a hint given that this patient's genetic material has been analyzed in a different context before.

Sichter
(Graf Isolan), SleepyHollow02

[6.] Mmu/Fragment 034 12 - Diskussion
Zuletzt bearbeitet: 2016-02-07 14:56:21 Hindemith
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Multiplex Ligation-dependant Probe Amplification (MLPA) analysis

We used a distinct commercially available MLPA kit, the SALSA P036D subtelomeric primer set (MRC-Holland, Amsterdam, The Netherlands). This kit contains oligonucleotide primer sets specific for the amplification of selected loci in the subtelomeric regions of all chromosome arms, except for the acrocentric chromosomes 13, 14, 15, 21 and 22 that effectively lack a short arm. For the latter, the manufacturer has included in this kit primer sets specific for loci adjacent to the centromere in the long arm of the acrocentric chromosomes, referred to as the ‘acrocentric’ primer. This kit was previously validated in other laboratories (data not shown) on series of patients with known subtelomeric ultra conserved regions (UCRs) [29, 30]. The target loci of this kit represent known functional genes or protein coding sequences. Each experiment was carried out according to the manufacturer’s instructions.

Fluorescent in situ hybridization (FISH) analysis

Chromosomal preparations for the analysis were obtained according to standard techniques. FISH was performed with TelVision 9p and 17p probes (Vysis). Each experiment was carried out according to the manufacturer’s instructions.


[29] Ahn J W, Ogilvie C M, Welch A, Thomas H, Madula R, Hills A, Donaghue C, Mann K. (2007) Detection of subtelomere imbalance using MLPA: validation, development of an analysis protocol, and application in a diagnostic centre. BMC Med Genet 8:9

[30] Rooms L, Reyniers E, van Luijk R, Scheers S, Wauters J, Ceulemans B, Van Den Ende J, Van Bever Y, Kooy R F. (2004) Subtelomeric deletions detected in patients with idiopathic mental retardation using multiplex ligation-dependent probe amplification (MLPA). Hum Mutat 23:17-21

MATERIAL AND METHODS

Multiplex Ligation-dependant Probe Amplification (MLPA) analysis

We used a distinct commercially available MLPA kit, the SALSA P036D subtelomeric primer set (MRC-Holland, Amsterdam, The Netherlands). This kit contains oligonucleotide primer sets specific for the amplification of selected loci in the subtelomeric regions of all chromosome arms, except for the acrocentric chromosomes 13, 14, 15, 21 and 22 that effectively lack a short or p-arm. For the latter the manufacturer has included in this kit primer sets specific for loci adjacent to the centromere in the long arm of the acrocentric chromosomes, referred to as the ‘acrocentric’ primer. This kit was previously validated in other laboratories (data not shown) on series of patients with known subtelomeric UCRs [Ahn J et al. 2007, Kirchhoff et al. 2005, Rooms et al. 2004]. The target loci of this kit represent known functional genes or protein coding sequences.

[...]

FISH analysis

Chromosomal preparations for the analysis were obtained according to standard techniques. Fluorescent in situ hybridization (FISH) was performed with TelVision 9p and 17p probes (Vysis). Each experiment was carried out according to the manufacturer’s instructions.

Anmerkungen

Nothing has been marked as a citation.

The original text is part of an article which is included in Katzaki's thesis. Mmu was not one of the coauthors of this article. The references for Ahn J et al. 2007, Kirchhoff et al. 2005, Rooms et al. 2004 are all missing in Katzaki (2009).

Sichter
(Graf Isolan), SleepyHollow02

[7.] Mmu/Fragment 035 08 - Diskussion
Zuletzt bearbeitet: 2014-12-22 15:35:40 Hindemith
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Results

[...] The array-CGH analysis also revealed a 50 Kb duplication in Xq28 [arr Xq28(148,690,284-148,728,581)x3 mat] in the proband and her mother, already reported in healthy individuals and thus probably not associated with a phenotype [31] (data not shown).


[31] Sanlaville D, Prieur M, de Blois M C, Genevieve D, Lapierre J M, Ozilou C, Picq M, Gosset P, Morichon-Delvallez N, Munnich A, Cormier-Daire V, Baujat G, et al. (2005) Functional disomy of the Xq28 chromosome region. Eur J Hum Genet 13:579-85

RESULTS

[...] The array-CGH analysis also revealed a 50 Kb duplication in Xq28 in the proband and her mother, already reported in healthy individuals and thus probably not associated with a phenotype [Sanlaville et al 2005].


• Sanlaville D, Prieur M, de Blois MC, Genevieve D, Lapierre JM, Ozilou C, Picq M, Gosset P, Morichon-Delvallez N, Munnich A, Cormier-Daire V, Baujat G, Romana S, Vekemans M, Turleau C. Functional disomy of the Xq28 chromosome region. Eur J Hum Genet 2005 May 13(5):579-85.

Anmerkungen

Nothing has been marked as a citation. Take-over is continued in Mmu/Fragment_035_16.

The original text is part of an article which is included in Katzaki's thesis. The patient described here is obviously the same (albeit now several years older). Mmu was not one of the coauthors of the original article. There is no hint given that this description is not Mmu's own. Neither is there a hint given that this patient's genetic material has been analyzed in a different context before.

Sichter
(Graf Isolan), SleepyHollow02

[8.] Mmu/Fragment 035 16 - Diskussion
Zuletzt bearbeitet: 2014-12-22 15:35:45 Hindemith
Fragment, Gesichtet, Katzaki 2009, Mmu, SMWFragment, Schutzlevel sysop, Verschleierung

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FISH analysis of the parents of both patients, performed using telomeric probes for chromosomes 10 and 17 in family 1 and probes for chromosomes 9 and 17 in family 2, revealed a balanced translocation in Patient 1’s father and Patient 2’s mother (data not shown). Given the presence of microcephaly in the otherwise healthy mother of Patient 2, we also performed array-CGH analysis on the mother’s DNA, to ascertain if the translocation was balanced. The analysis revealed no gains or losses at both breakpoints (data not shown). FISH analysis in parents performed using telomeric probes for chromosomes 9 and 17 revealed a balanced translocation in the mother (data not shown). Given the presence of microcephaly in the otherwise healthy mother, we also performed array-CGH analysis on the mother’s DNA, in order to ascertain if the translocation was balanced. The analysis revealed no gains or losses at both breakpoints. Given the presence of microcephaly in the otherwise healthy mother, we tested her DNA by array-CGH analysis to ascertain if the translocation is indeed balanced.
Anmerkungen

Nothing has been marked as a citation. Take-over is direct continuation from Mmu/Fragment_035_08.

The original text is part of an article which is included in Katzaki's thesis. The patient described here is obviously the same (albeit now several years older). Mmu was not one of the coauthors of the original article. There is no hint given that this description is not Mmu's own. Neither is there a hint given that this patient's genetic material has been analyzed in a different context before.

Sichter
(Graf Isolan), SleepyHollow02

[9.] Mmu/Fragment 037 01 - Diskussion
Zuletzt bearbeitet: 2014-12-22 15:35:48 Hindemith
Fragment, Gesichtet, Katzaki 2009, Mmu, SMWFragment, Schutzlevel sysop, Verschleierung

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[Deletions of the terminal portion of the short arm of chromosome 9 are associated with ID due to DOCK8 haploinsufficiency [34, 35] and a male to female sex] reversal, possibly due to DMRT1 and DMRT2 haploinsufficiency [23]. Although in female patients no urogenital anomalies are reported, we cannot completely rule out the hypothesis that the mild abnormal morphology of the uterus reported in our patient could be due to haploinsufficiency of the 9p region. Therefore, more accurate gynaecologic evaluation in the proband could be useful.

The rearrangements present in our patients originated from a balanced translocation present in a parent as demonstrated by FISH analysis. In family 2, the mother presented isolated microcephaly with normal intellectual functioning, and experienced two spontaneous miscarriages in the first month of gestation. In addition, the family history revealed that, two maternal cousins of the proband suffered from psychomotor delay. All these data indicated a segregation of the translocation in the maternal branch of the family.


[23] Barbaro M, Balsamo A, Anderlid B M, Myhre A G, Gennari M, Nicoletti A, Pittalis M C, Oscarson M, Wedell A. (2009) Characterization of deletions at 9p affecting the candidate regions for sex reversal and deletion 9p syndrome by MLPA. Eur J Hum Genet 17:1439-47

[34] Griggs B L, Ladd S, Saul R A, DuPont B R, Srivastava A K. (2008) Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities. Genomics 91:195-202

[35] Ruusala A, Aspenstrom P. (2004) Isolation and characterisation of DOCK8, a member of the DOCK180-related regulators of cell morphology. FEBS Lett 572:159-66

Deletions of the terminal portion of the short arm of chromosome 9 are associated with a male to female sex reversal, possibly due to DMRT1 and DMRT2 haploinsufficiency [Barbaro et al. 2009]. [...] Although in female patients no urogenital anomalies are reported, we cannot completely rule out the hypothesis that the mild abnormal morphology of the uterus reported in our patient could be due to haploinsufficiency of the 9p region. We therefore planned an accurate gynecologic evaluation in the proband.

The rearrangement present in our case is originated by a balanced translocation present in the mother as demonstrated by FISH analysis. The mother presents isolated microcephaly with normal psychomotor development and mental abilities and experienced two spontaneous abortions in the first month of gestation. In addition, from the family history, two maternal cousins of the proband are referred to suffer from psychomotor delay. All this data indicate a segregation of the translocation in the maternal branch of the family.

Anmerkungen

Nothing has been marked as a citation.

The original text is part of an article which is included in Katzaki's thesis. The patient described here is obviously the same (albeit now several years older). Mmu was not one of the coauthors of the original article. There is no hint given that this description is not Mmu's own. Neither is there a hint given that this patient's genetic material has been analyzed in a different context before.

The take-over from the original text is continued in Mmu/Fragment_037_20.

The reference for [Barbaro et al. 2009] is missing in Katzaki (2009).

Sichter
(Graf Isolan), SleepyHollow02

[10.] Mmu/Fragment 037 20 - Diskussion
Zuletzt bearbeitet: 2014-12-22 15:35:52 Hindemith
Fragment, Gesichtet, Katzaki 2009, Mmu, SMWFragment, Schutzlevel sysop, Verschleierung

Typus
Verschleierung
Bearbeiter
Graf Isolan
Gesichtet
Yes.png
Untersuchte Arbeit:
Seite: 37, Zeilen: 20-27
Quelle: Katzaki 2009
Seite(n): 71-72, Zeilen: 71:right col. 75-76 - 72:left col. 1-6, 8-11
The presence of microcephaly in both Patient 2 and her mother led us to consider disrupted genes at the breakpoints as possible candidate causes of microcephaly. The breakpoint at chromosome 17 did not disrupt genes, while the breakpoint at chromosome 9 interrupted the C9orf68 gene, which has a sequence homology to SPATA6, encoding for a spermatogenesis-associated protein 6 precursor. A dosage alteration of genes located near the breakpoints due to a positional effect cannot be excluded as a possible cause for the microcephaly present both in the patient and her mother. [Page 71]

The presence of microcephaly in both the patient and the mother induced us to

[Page 72]

consider disrupted genes at the breakpoints as possible candidates for microcephaly. The breakpoint on chromosome 17 seems not to disrupt genes, while the breakpoint on chromosome 9 seems to interrupt the gene C9orf68, which has a sequence homologous to SPATA6, encoding for a spermatogenesis-associated protein 6 precursor. Given the associated function, this gene doesn’t seem to contribute to the phenotype of our patient. A dosage alteration of genes located near the breakpoints due to a positional effect cannot be excluded as a possible cause for the microcephaly present both in the patient and her mother.

Anmerkungen

Nothing has been marked as a citation.

The original text is part of an article which is included in Katzaki's thesis. The patient described here is obviously the same (albeit now several years older). Mmu was not one of the coauthors of the original article. There is no hint given that this description is not Mmu's own. Neither is there a hint given that this patient's genetic material has been analyzed in a different context before.

The take-over from the original text is continued from Mmu/Fragment_037_01.

Sichter
(Graf Isolan), SleepyHollow02

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