✦ LIBER ✦

A girl with inverted triplication of chromosome 3q25.3 → q29 and multiple congenital anomalies consistent with 3q duplication syndrome

✍ Scribed by Katrin Õunap; Tiiu Ilus; Oliver Bartsch

Publisher: John Wiley and Sons
Year: 2005
Tongue: English
Weight: 165 KB
Volume: 134A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.30134

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

A child with multiple congenital anomali

A child with multiple congenital anomalies and karyotype 46,XY,del(14)(q31q32.3): Further delineation of chromosome 14 interstitial deletion syndrome

✍ Gorski, Jerome L. ;Uhlmann, Wendy R. ;Glover, Thomas W. 📂 Article 📅 1990 🏛 John Wiley and Sons 🌐 English ⚖ 328 KB 👁 1 views

An 11q11–q13.3 duplication, including FG

An 11q11–q13.3 duplication, including FGF3 and FGF4 genes, in a patient with syndromic multiple craniosynostoses

✍ Fernanda S. Jehee; Débora R. Bertola; Krishna K. Yelavarthi; Ana C.V. Krepischi- 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 226 KB 👁 1 views

## Abstract Interstitial duplications of 11q are very rare and seldom reported. In this paper we describe the first case of a duplication involving bands 11q11 and 11q12. This newly described patient has multiple craniosynostoses, congenital heart defect and developmental delay, and is a carrier of

Unique de novo interstitial deletion of

Unique de novo interstitial deletion of chromosome 17, del(17) (q23.2q24.3) in a female newborn with multiple congenital anomalies

✍ Levin, Michael L. ;Shaffer, Lisa G. ;Lewis, Richard A. ;Gresik, Mary V. ;Lupski, 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 362 KB 👁 1 views

W e describe a newborn with a novel interstitial deletion of the long arm of chromosome 17 [del (17) (q23.2q24.3)I who died on day of life 17 during a recurrent apneic episode. Her phenotype included severe growth retardation, multiple facial anomalies, maldeveloped oralpharyngeal structures, and di

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

Interstitial deletion of the long arm of

Interstitial deletion of the long arm of chromosome 5 in a boy with multiple congenital anomalies and mental retardation: Molecular characterization of the deleted region to 5q22.3q23.3

✍ Sixto Garcia-Miñaur; Jacqueline Ramsay; Elizabeth Grace; Robert A. Minns; Lynn M 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 327 KB 👁 2 views

Proximal trisomy of 1q mosaicism in a gi

Proximal trisomy of 1q mosaicism in a girl with hypertrophic cardiomyopathy associated with Wolff-Parkinson-White syndrome and multiple congenital anomalies

✍ Hirshfeld, Amy B. ;Thompson, W. Reid ;Patel, Ankita ;Boone, Lucy Barrett ;Murphy 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 196 KB 👁 2 views