✦ LIBER ✦

Cryptic chromosome rearrangements detected by subtelomere assay in patients with mental retardation and dysmorphic features

✍ Scribed by AJ Dawson; S. Putnam; J. Schultz; D. Riordan; C. Prasad; CR Greenberg; BN Chodirker; AA Mhanni; AE Chudley

Book ID: 110887879
Publisher: John Wiley and Sons
Year: 2008
Tongue: English
Weight: 966 KB
Volume: 62
Category: Article
ISSN: 0009-9163
DOI: 10.1111/j.1399-0004.2002.tb02255.x

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Screening for cryptic chromosomal abnorm

Screening for cryptic chromosomal abnormalities in patients with mental retardation and dysmorphic facial features using telomere fish probes

✍ Hulley, Bonnie J. ;Hummel, Marybeth ;Wenger, Sharon L. 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 31 KB 👁 2 views

Prospective screening of patients with u

Prospective screening of patients with unexplained mental retardation using subtelomeric MLPA strongly increases the detection rate of cryptic unbalanced chromosomal rearrangements

✍ A.P.A. Stegmann; L.M.H. Jonker; J.J.M. Engelen 📂 Article 📅 2008 🏛 Elsevier Science 🌐 English ⚖ 189 KB

Additional chromosomal abnormalities in

Additional chromosomal abnormalities in patients with a previously detected abnormal karyotype, mental retardation, and dysmorphic features

✍ Anne-Marie Bisgaard; Maria Kirchhoff; Zeynep Tümer; Birgit Jepsen; Karen Brøndum 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 304 KB 👁 3 views

## Abstract The detection of chromosomal abnormalities in patients with mental retardation (MR) and dysmorphic features increases with improvements of molecular cytogenetic methods. We report on six patients referred for detailed characterization of chromosomal abnormalities (four translocations, o

High frequency of subtelomeric rearrange

High frequency of subtelomeric rearrangements in a cohort of 92 patients with severe mental retardation and dysmorphism

✍ A Novelli; C Ceccarini; L Bernardini; D Zuccarello; V Caputo; MC Digilio; R Ming 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 995 KB

Identification of an unbalanced cryptic

Identification of an unbalanced cryptic translocation between the chromosomes 8 and 13 in two sisters with mild mental retardation accompanied by mild dysmorphic features

✍ Kleefstra, Tjitske; van de Zande, Guillaume; Merkx, Gerard; Mieloo, Hanneke; Hoo 📂 Article 📅 2000 🏛 Nature Publishing Group 🌐 English ⚖ 160 KB

Cryptic unbalanced translocation t(17;18

Cryptic unbalanced translocation t(17;18)(p13.2;q22.3) identified by subtelomeric FISH and defined by array-based comparative genomic hybridization in a patient with mental retardation and dysmorphic features

✍ Kwei Shuai Hwang; Margaret A. Pearson; Pawel Stankiewicz; P. Alan Lennon; M. Lan 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 223 KB 👁 1 views