[PDF][PDF] Trisomy 18 and agenesis of corpus callosum: A case report

V Belengeanu¹, M Boia¹, G Diaconescu… - ISSN p 1221 …, 2007 - jurnalulpediatrului.ro
V Belengeanu¹, M Boia¹, G Diaconescu, N Andreescu¹, S Farcas¹, M Stoian¹
ISSN p 1221-7212, 2007jurnalulpediatrului.ro
Trisomy 18 syndrome is caused by the presence of an extra number 18 chromosome, which
leads to multiple abnormalities. Many of these malformations make it hard for infants to live
longer than a few months. We present a case of trisomy 18 with agenesis of corpus callosum
in a newborn male with intrauterine growth retardation that was investigated for growth
retardation and facial dismorphy. The cytogenetic analysis revealed a complete trisomy 18
karyotype.
Abstract
Trisomy 18 syndrome is caused by the presence of an extra number 18 chromosome, which leads to multiple abnormalities. Many of these malformations make it hard for infants to live longer than a few months. We present a case of trisomy 18 with agenesis of corpus callosum in a newborn male with intrauterine growth retardation that was investigated for growth retardation and facial dismorphy. The cytogenetic analysis revealed a complete trisomy 18 karyotype.
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