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De novo 16p deletion: ATR-16 syndrome

✍ Scribed by Lindor, Noralane M.; Valdes, Maria G.; Wick, Myra; Thibodeau, Stephen N.; Jalal, Syed

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 16 KB
Volume: 72
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19971112)72:4<451::aid-ajmg15>3.0.co;2-q

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✦ Synopsis

We describe a child with ␣-thalassemia ascertained by newborn screening. Evaluation at 9 months of age showed minor anomalies and developmental delay. Chromosomal analysis demonstrated a de novo deletion of the most distal portion of the short arm of chromosome 16, which contains the ␣-globin genes. Analysis of the ␣globin locus by Southern blot analysis did not demonstrate altered band sizes at this locus; however, analysis of the films using densitometry confirmed hemizygosity. This is the fifth reported case of the ATR-16 syndrome (␣-thalassemia retardation-16) not complicated by duplication or deletion of other chromosomes. Am. J. Med. Genet. 72: 451-454, 1997.

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