✦ LIBER ✦

Combined Goltz and Aicardi syndromes in a terminal Xp deletion: Are they a contiguous gene syndrome?

✍ Scribed by Naritomi, Kenji ;Izumikawa, Yoshinori ;Nagataki, Shigetoshi ;Fukushima, Yoshimitsu ;Wakui, Keiko ;Niikawa, Norio ;Hirayama, Kiyotake

Publisher: John Wiley and Sons
Year: 1992
Tongue: English
Weight: 482 KB
Volume: 43
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320430517

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A familial contiguous gene deletion synd

A familial contiguous gene deletion syndrome at Xp22.3 characterized by severe learning disabilities and ADHD

✍ Boycott, Kym M. ;Parslow, Malcolm I. ;Ross, Judith L. ;Miller, Ivan P. ;Bech-Han 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 279 KB

Nephrogenic diabetes insipidus in a pati

Nephrogenic diabetes insipidus in a patient with L1 syndrome: A new report of a contiguous gene deletion syndrome including L1CAM and AVPR2

✍ Noël B.B. Knops; Krista K. Bos; Mieke Kerstjens; Karin van Dael; Yvonne J. Vos 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 177 KB 👁 2 views

Microphthalmia and chorioretinal lesions

Microphthalmia and chorioretinal lesions in a girl with an Xp22.2-pter deletion and partial 3p trisomy: Clinical observations relevant to aicardi syndrome gene localization

✍ Donnenfeld, Alan E. ;Graham, John M. ;Packer, Roger J. ;Aquino, Rosaria ;Berg, S 📂 Article 📅 1990 🏛 John Wiley and Sons 🌐 English ⚖ 461 KB

We present a 4-year-old girl with a maternally derived, unbalanced X;3 translocation resulting in partial Xp monosomy and partial 3p trisomy. She had chorioretinal defects, developmental delay, infantile seizures, and microphthalmia. These findings initially suggested a diagnosis of Aicardi syndrome

Diagnosis of a terminal deletion of 4p w

Diagnosis of a terminal deletion of 4p with duplication of Xp22.31 in a patient with findings of Opitz G/BBB syndrome and Wolf–Hirschhorn syndrome

✍ Joyce So; Ines Müller; Melanie Kunath; Susanne Herrmann; Reinhard Ullmann; Susan 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 202 KB 👁 3 views

Gene for multiple exostoses (EXT2) maps

Gene for multiple exostoses (EXT2) maps to 11(p11.2p12) and is deleted in patients with a contiguous gene syndrome

✍ Ligon, Azra H.; Potocki, Lorraine; Shaffer, Lisa G.; Stickens, Dominique; Evans, 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 6 KB 👁 2 views

Contiguous hemizygous deletion of TBX5,

Contiguous hemizygous deletion of TBX5, TBX3, and RBM19 resulting in a combined phenotype of Holt-Oram and ulnar-mammary syndromes

✍ Wiktor Borozdin; Ana M. Bravo-Ferrer Acosta; Eva Seemanova; Michael Leipoldt; Mi 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 245 KB 👁 2 views