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Terminal 14q32.33 deletion: Genotype–phenotype correlation

✍ Scribed by M-L. Maurin; S. Brisset; M. Le Lorc'h; V. Poncet; P. Trioche; A. Aboura; P. Labrune; G. Tachdjian

Publisher: John Wiley and Sons
Year: 2006
Tongue: English
Weight: 186 KB
Volume: 140A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.31438

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## Abstract Microdeletions of the 2q31.1 region are rare. We present the clinical and molecular findings of eight previously unreported patients with overlapping deletions in 2q31.1. The patients have a variable clinical phenotype and present with developmental delay (7/8), growth retardation (5/8)