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Interstitial deletions of the short arm of chromosome 4 in a patient with mental retardation and focal seizure.

Abstract：

:Interstitial deletion of the proximal short arm of chromosome 4 has rarely been described. This defect is associated with variable clinical manifestations, including mental retardation, unusual facial appearance, and minor limb abnormalities. We describe a girl diagnosed with moderate mental retardation and seizures with an interstitial deletion of the short arm of chromosome 4 [46, XX, del(4)(p12p15.2)].

journal_name

Pediatr Neonatol

journal_title

Pediatrics and neonatology

authors

Su PH,Lee IC,Chen JY,Chen SJ,Yu JS,Tsao TF

doi

10.1016/j.pedneo.2011.03.009

subject

Has Abstract

pub_date

2011-06-01 00:00:00

pages

165-8

issue

3

eissn

1875-9572

issn

2212-1692

pii

S1875-9572(11)00040-4

journal_volume

52

pub_type

杂志文章

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