✦ LIBER ✦

Phenotype resembling Donnai–Barrow syndrome in a patient with 9qter;16qter unbalanced translocation

✍ Scribed by Giovanni Battista Ferrero; Elga Belligni; Lorena Sorasio; Angelo Giovanni Delmonaco; Roberto Oggero; Francesca Faravelli; Mauro Pierluigi; Margherita Silengo

Publisher: John Wiley and Sons
Year: 2006
Tongue: English
Weight: 125 KB
Volume: 140A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.31188

No coin nor oath required. For personal study only.

✦ Synopsis

We describe a 3-year-old boy with complete agenesis of corpus callosum, developmental delay/mental retardation, anterior diaphragmatic hernia, Morgagni type, severe hypermetropia, and facial dysmorphism suggesting the diagnosis of Donnai-Barrow syndrome. Subtelomeric FISH analysis revealed a paternally-derived t(9;16) (q34.3;q24.3) translocation with partial 9q monosomy and partial 16q trisomy. As some facial features resemble the 9q emerging phenotype, we suggest the hypothesis that some patients with Donnai-Barrow syndrome might be abscribed to 9q terminal deletion.

📜 SIMILAR VOLUMES

Unbalanced 15;22 translocation in a pati

Unbalanced 15;22 translocation in a patient with manifestations of DiGeorge and velocardiofacial syndrome

✍ Jaquez, Marisela; Driscoll, Deborah A.; Li, Mengrong; Emanuel, Beverly S.; Herna 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 654 KB

We report on an 8-year-old girl with an unbalanced 15;22 translocation and manifestations of DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), and other abnormalities. The main manifestations of our patient were feeding difficulties, respiratory infections, short stature, peculiar face with

Partial monosomy 22 as the result of an

Partial monosomy 22 as the result of an unbalanced translocation 5:22 in a patient with cri-du-chat syndrome

✍ Margherita Cirillo Silengo; Generoso Andria 📂 Article 📅 1976 🏛 Springer 🌐 English ⚖ 197 KB

A 2-year-old boy with features suggestive of cri-du-chat syndrome had a complex karyotype: 45,XY,--22,5p--,t(5p:22q). Clinical symptoms were catlike cry in early infancy, severe mental and motor retardation, failure to thrive, hypertelorism, antimongoloid slant of the eyes, ptosis of the eyelids, ep

Narrowing the candidate region of Albrig

Narrowing the candidate region of Albright hereditary osteodystrophy-like syndrome by deletion mapping in a patient with an unbalanced cryptic translocation t(2;6)(q37.3;q26)

✍ Giardino, Daniela ;Finelli, Palma ;Gottardi, Giulietta ;De Canal, Gabriella ;Mon 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 238 KB 👁 3 views