A novel 2.3 Mb microduplication of 12q24.21q24.23 detected by genome-wide tiling-path resolution array comparative genomic hybridization in a girl with syndromic mental retardation.

Abstract:

:We report on a female patient with severe mental retardation, dysmorphic features, deafness, spasticity, and behavioural problems in whom a 2.3 Mb duplication of 12q24.21q24.23 was detected by genome-wide tiling-path resolution array-based comparative genomic hybridization. Mental retardation, microcephaly, short stature, recurrent infections, hypotonia and facial features, such as hypertelorism, epicanthal folds, and a broad nasal bridge, were also described in patients with larger duplications overlapping the 12q24.21q24.23 region. The duplicated region contains 16 genes, of which several genes, such as thyroid hormone receptor associated protein 2, replication factor C5 and nitric oxide synthase 1, are expressed in the brain and/or are involved in embryogenesis. The current case shows that microduplications might be a more frequent cause of mental retardation and human malformation than previously appreciated.

journal_name

Clin Dysmorphol

journal_title

Clinical dysmorphology

authors

Ruiter M,Koolen DA,Pfundt R,de Leeuw N,Klinkers HM,Sistermans EA,Veltman JA,de Vries BB

doi

10.1097/01.mcd.0000220605.94413.bb

subject

Has Abstract

pub_date

2006-07-01 00:00:00

pages

133-7

issue

3

eissn

0962-8827

issn

1473-5717

pii

00019605-200607000-00002

journal_volume

15

pub_type

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