✦ LIBER ✦

Duplication of the distal segment of 14q

✍ Scribed by Atkin, Joan F. ;Patil, Shivanand ;Opitz, John M.

Publisher: John Wiley and Sons
Year: 1983
Tongue: English
Weight: 471 KB
Volume: 16
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320160307

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Duplication of distal 22q

✍ Abeliovich, Dvorak ;Maor, Esther ;Bashan, Nava ;Carmi, Rivka 📂 Article 📅 1989 🏛 John Wiley and Sons 🌐 English ⚖ 471 KB 👁 1 views

We report on three patients with duplication of distal 22s. One patient is a de novo carrier of the translocation t(21;22) (p13;qll), the other two are offspring of a translocation carrier t( 10;22) (q26;q12). The clinical manifestations of these patients demonstrate the variability of the dup(22q)

A paternally derived inverted duplicatio

A paternally derived inverted duplication of distal 14q with a terminal 14q deletion

✍ Chih-Ping Chen; Schu-Rern Chern; Shuan-Pei Lin; Chyi-Chyang Lin; Yueh-Chun Li; T 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 145 KB 👁 2 views

## Abstract A girl presented with a phenotype including neonatal hypotonia, psychomotor retardation, mental retardation, short stature, and facial dysmorphism. She demonstrated common features of both 14q31‐qter duplication and terminal 14q deletion. She had undergone surgery for patent ductus arte

Duplication of distal 17q: Report of an

Duplication of distal 17q: Report of an observation

✍ Naccache, Nadyr F. ;Vianna-Morgante, Angela M. ;Richieri-Costa, A. ;Opitz, John 📂 Article 📅 1984 🏛 John Wiley and Sons 🌐 English ⚖ 307 KB 👁 1 views

Duplication of distal 19q: Clinical repo

Duplication of distal 19q: Clinical report and review

✍ Boyd, Ellen ;Grass, Frank S. ;Parke, James C. ;Knutson, Kam ;Stevenson, Roger E. 📂 Article 📅 1992 🏛 John Wiley and Sons 🌐 English ⚖ 404 KB 👁 2 views

## Abstract We report on a 20‐month‐old boy with duplication of the distal part of 19q. His karyotype is 46, XY, −22, + der(22), t(19;22) (q13.3; p11.2)mat. The propositus has multiple minor anomalies, congenital heart defects, seizures, profound psychomotor retardation, and growth impairment. Thes

Duplication 3q: Severe manifestations in

Duplication 3q: Severe manifestations in an infant with duplication of a short segment of 3q

✍ Rosenfeld, Warren ;Verma, Ram S. ;Jhaveri, Ramesh C. ;Estrada, Raul ;Evans, Hugh 📂 Article 📅 1981 🏛 John Wiley and Sons 🌐 English ⚖ 395 KB 👁 1 views

De novo direct duplication of chromosome

De novo direct duplication of chromosome segment 22q11.2-q13.1

✍ Fujimoto, Atsuko 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 6 KB 👁 2 views