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A 580 kb microdeletion in 17q21.32 associated with mental retardation, microcephaly, cleft palate, and cardiac malformation.

Abstract：

:We report on a young boy carrying a de novo 580 kb deletion in the 17q21.32 chromosomal band detected by array-CGH. He had multiple malformations including cardiac abnormalities, cleft palate, mental retardation, microcephaly, pronounced metopic suture and other minor facial dysmorphic features. This is the first case reported in the literature with such a small deletion in 17q21.32. This region includes 15 genes.

journal_name

Eur J Med Genet

journal_title

European journal of medical genetics

authors

Rooryck C,Burgelin I,Stef M,Taine L,Thambo JB,Lacombe D,Arveiler B

doi

10.1016/j.ejmg.2007.09.003

subject

Has Abstract

pub_date

2008-01-01 00:00:00

pages

74-80

issue

1

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(07)00099-7

journal_volume

51

pub_type

信件

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