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New insights into the pathogenic mechanisms associated with CNVs: duplication of 17p13.3, mirror effect in 16p11.2 and recessive phenotype in 22q11.22

von Dott. Mafalda Mucciolo

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

Typus
Verschleierung
Bearbeiter
Graf Isolan
Gesichtet
Yes.png
Untersuchte Arbeit:
Seite: 37, Zeilen: 1-12
Quelle: Katzaki 2009
Seite(n): 71, Zeilen: right col. 54-57, 61-75
[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

[2.] 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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