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Am J Med Genet. 2002 Jul 22;111(1):76-80.

Duplication of (2)(q11.1-q13.2) in a boy with mental retardation and cleft lip and palate: another clefting gene locus on proximal 2q?

Author information

1
Institute of Medical Genetics, University of Z├╝rich, Switzerland.

Erratum in

  • Am J Med Genet. 2002 Dec 1;113(3):313..

Abstract

A 4-year-old boy with left cleft lip and cleft palate, multiple minor anomalies and developmental delay revealed an abnormal chromosome 2 with enlarged proximal long arm, de novo, in his karyotype. Fluorescence in situ hybridization with a chromosome 2 library and band-specific YACs confined the duplicated segment to 2q11.1-q13.2 and indicated a direct tandem duplication due to unbalanced crossover between chromatids.

PMID:
12124740
DOI:
10.1002/ajmg.10534
[Indexed for MEDLINE]

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