✦ LIBER ✦

Molecular characterization of partial trisomy 16q24.1-qter: Clinical report and review of the literature

✍ Scribed by Brisset, S. ;Joly, G. ;Ozilou, C. ;Lapierre, J.-M. ;Gosset, Ph. ;LeLorc'h, M. ;Raoul, O. ;Turleau, C. ;Vekemans, M. ;Romana, S.P.

Publisher: John Wiley and Sons
Year: 2002
Tongue: English
Weight: 169 KB
Volume: 113
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.b.10740

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Clinical and molecular cytogenetic chara

Clinical and molecular cytogenetic characterization of two patients with partial trisomy 1q41-qter: Further delineation of partial trisomy 1q syndrome

✍ Emberger, Werner ;Petek, E. ;Kroisel, P. M. ;Zierler, H. ;Wagner, K. 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 470 KB 👁 2 views

Prenatal diagnosis of trisomy 1q21-qter:

Prenatal diagnosis of trisomy 1q21-qter: Case report and review of literature

✍ Andrea Machlitt; Peter Kuepferling; Christiane Bommer; Hannelore Koerner; Rabih 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 112 KB 👁 2 views

Further delineation of the phenotype map

Further delineation of the phenotype maps for partial trisomy 16q24 and Jacobsen syndrome by a subtle familial translocation t(11;16)(q24.2;q24.1)

✍ Susanne Zahn; Antje Ehrbrecht; Kristin Bosse; Vera Kalscheuer; Peter Propping; G 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 126 KB 👁 2 views

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

Trisomy 14 mosaicism in a liveborn male:

Trisomy 14 mosaicism in a liveborn male: Clinical Report and review of the literature

✍ Kaplan, Lawrence C. ;Wayne, Alan ;Crowell, Stephen ;Latt, Samuel A. ;Opitz, John 📂 Article 📅 1986 🏛 John Wiley and Sons 🌐 English ⚖ 380 KB 👁 1 views

Trisomy 20q caused by der(4) t(4;20) (q3

Trisomy 20q caused by der(4) t(4;20) (q35;q13.1): Report of a new patient and review of the literature

✍ Plotner, Pamela L. ;Smith, Janice L. ;Northrup, Hope 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 105 KB

## Abstract An infant with multiple congenital anomalies and severe developmental delay was found to have a derivative chromosome 4 by routine karyotypic analysis. Using telomeric FISH analysis, the source of the additional chromatin was determined to be from 20q. The infant, thus, is trisomic for