De novo 16p deletion: ATR-16 syndrome

Noralane M. Lindor, Maria G. Valdes, Myra Wick, Stephen N. Thibodeau, Syed Jalal

Research output: Contribution to journalArticle

16 Scopus citations

Abstract

We describe a child with α-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 α-globin genes. Analysis of the α-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 (α-thalassemia retardation-16) not complicated by duplication or deletion of other chromosomes.

Original languageEnglish (US)
Pages (from-to)451-454
Number of pages4
JournalAmerican journal of medical genetics
Volume72
Issue number4
DOIs
StatePublished - Nov 12 1997

Keywords

  • Contiguous gene syndrome
  • Microdeletion
  • Thalassemia

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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