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Am J Med Genet. 1992 Nov 1;44(4):500-2.

Smallest terminal deletion of the long arm of chromosome 2 in a mildly affected boy.

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1
Department of Genetics, Yale University School of Medicine, New Haven, CT 06510.

Abstract

We describe a male twin with the smallest terminal deletion of chromosome 2q [46,XY,del(2)(q37.2)] reported to date. His deletion was confirmed by a fluorescence in situ hybridization study using a probe from the deleted region. Only 3 other cases with larger deletions including 2q37.2-->qter have been reported. Clinical manifestations our patient has in common with them include frontal bossing, long eyelashes, micrognathia, infantile hypotonia and developmental delay. His twin brother is physically and developmentally normal and chromosomes of the parents were normal. The mildness of the phenotype in this patient supports less stringent criteria for cytogenetic study of developmentally impaired individuals.

PMID:
1442895
DOI:
10.1002/ajmg.1320440424
[Indexed for MEDLINE]
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