2q24–q31 Deletion: Report of a case and review of the literature
✍ Scribed by C. Pescucci; R. Caselli; S. Grosso; M.A. Mencarelli; F. Mari; M.A. Farnetani; B. Piccini; R. Artuso; M. Bruttini; M. Priolo; O. Zuffardi; S. Gimelli; P. Balestri; A. Renieri
- Book ID
- 116433003
- Publisher
- Elsevier Science
- Year
- 2007
- Tongue
- English
- Weight
- 778 KB
- Volume
- 50
- Category
- Article
- ISSN
- 1769-7212
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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
A male infant with multiple congenital anomalies was found to have a deletion of 7q [46,XY,del(7)(pter+ql1.2:: q22-3qter)l. The father had a balanced rearrangement involving chromosomes 7 and 9, interpreted as 46,XY,dir ins(9;7) (9pter+ 9p12::7q22+ 7q11.2:: 9p12-3 9qteq7pter-3 7q11.2 :: 7q22-3 7qter
## Abstract ## BACKGROUND Pure partial trisomy of chromosome 5q is rare and cases have ranged over the entire region, making it difficult to describe a good phenotypic correlation to the cytogenetic duplication. ## CASE We present a 4.5‐year‐old girl with a de novo direct duplication of chromoso