Clinical phenotype associated with terminal 2q37 deletion.

Abstract:

:Three children with deletions of the terminal portion of the long arm of chromosome 2 [del (2) (q37)] are described and their clinical findings compared to published cases of 2q terminal deletions. Common clinical findings include development delay, macrocephaly, frontal bossing, depressed nasal bridge and cardiac anomaly. Hypotonia and repetitive behavior are also seen during different times of development. The facial characteristics of children with 2q terminal deletions are not uniform, but development delay is a constant finding. Chromosomal analysis of such children using high resolution banding may uncover the diagnosis of a small chromosomal deletion.

journal_name

Clin Genet

journal_title

Clinical genetics

authors

Conrad B,Dewald G,Christensen E,Lopez M,Higgins J,Pierpont ME

doi

10.1111/j.1399-0004.1995.tb04073.x

subject

Has Abstract

pub_date

1995-09-01 00:00:00

pages

134-9

issue

3

eissn

0009-9163

issn

1399-0004

journal_volume

48

pub_type

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