Autism and hypoplastic corpus callosum in a case of monocentric marker chromosome 15.

Abstract:

:An 8-year-old boy was diagnosed with autism, along with development delay, seizures, and hypoplastic corpus callosum. His karyotype was 47, XY, +mar.ish (15) (D15Z1+, SNRPN+, GABRB3+, PML-(de novo?). The supernumerary marker chromosome 15 with euchromatin was monosatellited and monocentric. Although autism, seizures, and mental and developmental retardation are not rare in association with a dicentric, bisatellited supernumerary marker chromosome 15, the present case is novel for a monocentric, monosatellited supernumerary marker chromosome 15 and the additional feature of hypoplastic corpus callosum. The present case provides support for the hypotheses that additional copies of different segments of proximal 15q are related to autism and to malformations of corpus callosum.

journal_name

Pediatr Neurol

journal_title

Pediatric neurology

authors

Jovanović-Privrodski JD,Kavecan II,Obrenović MR,Buonadonna LA,Bukvić NM

doi

10.1016/j.pediatrneurol.2009.02.004

subject

Has Abstract

pub_date

2009-07-01 00:00:00

pages

65-7

issue

1

eissn

0887-8994

issn

1873-5150

pii

S0887-8994(09)00078-2

journal_volume

41

pub_type

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