𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Syndromic mental retardation with thrombocytopenia due to 21q22.11q22.12 deletion: Report of three patients

✍ Scribed by Eleni Katzaki; Gilles Morin; Marzia Pollazzon; Filomena Tiziana Papa; Sabrina Buoni; Joussef Hayek; Joris Andrieux; Laure Lecerf; Cornel Popovici; Aline Receveur; Michèle Mathieu-Dramard; Alessandra Renieri; Francesca Mari; Nicole Philip

Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
263 KB
Volume
152A
Category
Article
ISSN
1552-4825

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

FG syndrome: Report of three new familie
FG syndrome: Report of three new families with linkage to xq12-q22.1
✍ Graham, John M.; Tackels, Darci; Dibbern, Kurt; Superneau, Duane; Rogers, Curtis 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 70 KB 👁 2 views

FG syndrome is a rare X-linked recessive form of mental retardation, first described by Opitz and Kaveggia in 1974 in five related males with mental retardation, disproportionately large heads, imperforate anus, and congenital hypotonia. Partial agenesis of the corpus callosum was noted in at least

Interstitial deletion of chromosome 4, d
Interstitial deletion of chromosome 4, del(4)(q12q21.1), in a mentally retarded boy with a piebald trait, due to maternal insertion, ins(8;4)
✍ Fujimoto, Atsuko; Reddy, Kavita S.; Spinks, Randy 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 22 KB 👁 1 views

A 17-year-old boy who was diagnosed with ''Waardenburg syndrome'' showed moderate growth and mental retardation. Chromosome analysis showed an apparent interstitial deletion 4q12q21.1. The mother had a direct insertion of the deleted segment into a chromosome 8. The rearrangement was confirmed to be

Ectodermal dysplasia-like syndrome with
Ectodermal dysplasia-like syndrome with mental retardation due to contiguous gene deletion: Further clinical and molecular delineation of del(2q32) syndrome
✍ Laila Rifai; Marylin Port-Lis; Anne-Claude Tabet; Isabelle Bailleul-Forestier; B 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 202 KB 👁 2 views

## Abstract We report on a patient with an interstitial deletion of the long arm of chromosome 2 at 2q31.2q33.2. She had prenatal and postnatal growth retardation, microcephaly, facial dysmorphism, cleft palate, camptodactyly, bilateral talipes equinovarus, severe intellectual disability, and ectod