✦ LIBER ✦

Interstitial deletion of 5q33.3q35.1 in a girl with mild mental retardation

✍ Scribed by Spranger, Stephanie ;Rommel, Birgit ;Jauch, Anna ;Bodammer, Robert ;Mehl, Burkhard ;Bullerdiek, Joern

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 180 KB
Volume: 93
Category: Article
ISSN: 0148-7299
DOI: 10.1002/1096-8628(20000717)93:2<107::aid-ajmg5>3.0.co;2-8

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Interstitial 1q25.3-q31.3 deletion in a

Interstitial 1q25.3-q31.3 deletion in a boy with mild manifestations

✍ Pia Höglund; Reetta Jalkanen; Eino Marttinen; Tiina Alitalo 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 170 KB

## Abstract We describe a 4‐year‐old boy with an accessory right thumb, short and broad toes, cryptorchidism, micrognathia, abnormally modeled ears, and delayed speech development. The chromosome analysis of patient's peripheral blood lymphocytes by conventional GTG banding demonstrated a small del

New case of interstitial deletion 12(q15

New case of interstitial deletion 12(q15-q21.2) in a girl with facial dysmorphism and mental retardation

✍ Caroline Schluth; Roselyne Gesny; Guntram Borck; Richard Redon; Véronique Abadie 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 133 KB

Interstitial deletion of chromosome 5 in

Interstitial deletion of chromosome 5 in a neonate due to maternal insertion, ins(8;5)(p23;q33q35)

✍ Gibbons, Barbara; Tan, Siew Yee; Kee, Su Keyau; Quaife, Roger; Lim, Seh Teen 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 34 KB 👁 2 views

We describe an infant girl with an interstitial deletion of chromosome bands 5q33 to 5q35 inherited from a maternal interchromosomal insertion ins(8;5)(p23;q33q35) which was demonstrated by fluorescent in situ hybridization with whole chromosome paints. Physical anomalies included hypertonicity, mic

First report of an interstitial deletion

First report of an interstitial deletion, del(5)(q33.1q35.1) in a girl with primary amenorrhea, seizures, and severe behavioral and developmental deficiencies

✍ Jill K. Northup; Kären E. Wain; Judy C. Hawkins; Reuben Matalon; Gopalrao V.N. V 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 161 KB 👁 1 views

Detection of an interstitial 3q21.1-q21.

Detection of an interstitial 3q21.1-q21.3 deletion in a child with multiple congenital abnormalities, mental retardation, pancytopenia, and myelodysplasia

✍ P. Callier; L. Faivre; N. Marle; C. Thauvin-Robinet; J. Guy; A.L. Mosca; P. D'At 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 124 KB 👁 1 views

Elucidation of a cryptic interstitial 7q

Elucidation of a cryptic interstitial 7q31.3 deletion in a patient with a language disorder and mild mental retardation by array-CGH

✍ Tyson, Christine ;McGillivray, Barbara ;Chijiwa, Chieko ;Rajcan-Separovic, Evica 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 259 KB 👁 1 views