✦ LIBER ✦

Holoprosencephaly, ear abnormalities, congenital heart defect, and microphallus in a patient with 11q-mosaicism

✍ Scribed by Helmuth, Robin A. ;Weaver, David D. ;Wills, Edward R. ;Opitz, John M. ;Reynolds, James F.

Publisher: John Wiley and Sons
Year: 1989
Tongue: English
Weight: 419 KB
Volume: 32
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320320207

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Congenital heart defect in a patient wit

Congenital heart defect in a patient with deletion of chromosome 7q

✍ Tiller, George E. ;Watson, Michael S. ;Duncan, Lyn M. ;Dowton, S. Bruce ;Optiz, 📂 Article 📅 1988 🏛 John Wiley and Sons 🌐 English ⚖ 288 KB 👁 1 views

Congenital heart defect in a patient wit

Congenital heart defect in a patient with the Hallermann-Streiff syndrome

✍ Imaizumi, Kiyoshi ;Makita, Yoshio ;Masuno, Mitsuo ;Kuroki, Yoshikazu 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 119 KB 👁 2 views

A microduplication of CBP in a patient w

A microduplication of CBP in a patient with mental retardation and a congenital heart defect

✍ Bernard Thienpont; Jeroen Breckpot; Maureen Holvoet; Joris R. Vermeesch; Koen De 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 219 KB 👁 2 views

Clinical and molecular delineation of 16

Clinical and molecular delineation of 16p13.3 duplication in a patient with congenital heart defect and multiple congenital anomalies

✍ Jin-Lan Chen; Yi-Feng Yang; Can Huang; Jian Wang; Jin-Fu Yang; Zhi-Ping Tan 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 411 KB 👁 2 views

Interstitial deletion of 14q24.3-q32.2 i

Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects

✍ Sultan Cingöz; Iben Bache; Lise Bjerglund; Hans-Hilger Ropers; Niels Tommerup; H 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 132 KB 👁 1 views

## Abstract Distal interstitial deletions of chromosome 14 involving the 14q24‐q23.2 region are rare, and only been reported so far in 20 patients. Ten of these patients were analyzed both clinically and genetically. Here we present a de novo interstitial deletion of chromosome 14q24.3‐q32.2 in a m