✦ LIBER ✦

Partial trisomy 2q: Report of a patient with dup (2)(q33.1q35)

✍ Scribed by Courtney Drake Sebold; Susan Romie; Jadwiga Szymanska; Wilfredo Torres-Martinez; Virginia Thurston; Catherine Muesing; Gail H. Vance

Publisher: John Wiley and Sons
Year: 2005
Tongue: English
Weight: 143 KB
Volume: 134A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.30463

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Prenatal diagnosis of Partial Trisomy 2q

Prenatal diagnosis of Partial Trisomy 2q. Case Report

✍ Ana Matos; Ana Nogueira; Begoña Criado; Salomé Pereira; Sérgio Castedo; Nuno Mon 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 94 KB 👁 2 views

A case of partial trisomy 2(q21q33) detected by cordocentesis at 27 weeks' gestation in a polymalformed fetus is described. This is the second case of a prenatally detected de novo duplication of 2q and the first involving the region referred to above. 1997 by

Molecular cytogenetic analysis of de nov

Molecular cytogenetic analysis of de novo dup(5)(q35.2q35.3) and review of the literature of pure partial trisomy 5q

✍ Chih-Ping Chen; Shuan-Pei Lin; Chyi-Chyang Lin; Yann-Jang Chen; Schu-Rern Chern; 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 162 KB 👁 1 views

## Abstract An 11‐year‐old girl presented with the phenotype of microcephaly, moderate mental retardation, motor retardation, short stature, strabismus, brachydactyly, and facial dysmorphism. She had undergone surgery for inguinal hernias. Detailed examinations of the heart and other internal organ

A partial trisomy 1q patient with a dele

A partial trisomy 1q patient with a deletion 1q22 and an insertion 1(q42q44) into 1q22

✍ Doriana Misceo; Mariano Rocchi; Carl Birger van der Hagen; Eirik Frengen 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 110 KB 👁 1 views

Mosaicism del(22)(q11.2q11.2)/dup(22)(q1

Mosaicism del(22)(q11.2q11.2)/dup(22)(q11.2q11.2) in a patient with features of 22q11.2 deletion syndrome

✍ Melissa A. Dempsey; Stuart Schwartz; Darrel J. Waggoner 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 172 KB 👁 1 views

Lung hypoplasia in a patient with del(2)

Lung hypoplasia in a patient with del(2)(q33-q35) demonstrated by chromosome microdissection

✍ Kramer, Boris W. ;Martin, Thomas ;Henn, Wolfram ;Lal, Shangara ;Speer, Christian 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 435 KB

De novo deletion 12q: Report of a patien

De novo deletion 12q: Report of a patient with 12q24.31q24.33 deletion

✍ Sathya, Pushpa; Tomkins, Darrell J.; Freeman, Viola; Paes, Bosco; Nowaczyk, Ma?g 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 18 KB 👁 2 views

We report on a patient with de novo interstitial deletion of the long arm of chromosome 12: 46,XY,del(12)(q24.31q24.33). To our knowledge this is the first patient with this chromosomal abnormality reported. He was born with minor anomalies, ambiguous genitalia, tracheomalacia, and he was developmen