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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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Statistik und Sichtungsnachweis dieser Seite findet sich am Artikelende
[1.] Mmu/Fragment 033 06 - Diskussion
Zuletzt bearbeitet: 2014-12-22 15:35:37 Hindemith
Fragment, Gesichtet, Katzaki 2009, Mmu, SMWFragment, Schutzlevel sysop, Verschleierung

Typus
Verschleierung
Bearbeiter
Graf Isolan
Gesichtet
Yes.png
Untersuchte Arbeit:
Seite: 33, Zeilen: (5).6-17-32
Quelle: Katzaki 2009
Seite(n): 70-71, Zeilen: 70:right col. 2 ff. - 71:left col. 1 ff.
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


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Letzte Bearbeitung dieser Seite: durch Benutzer:Hindemith, Zeitstempel: 20141222161037

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