Paper Information

Journal:   GENETICS IN THE 3RD MILLENNIUM   WINTER 2016 , Volume 13 , Number 4; Page(s) 4134 To 4137.
 
Paper: 

ACROCALLOSAL SYNDROME IN A 6-YEAR-OLD IRANIAN BOY (CASE REPORT)

 
 
Author(s):  SAHEBALZAMANI AFSANEH*, KARIMINEJAD ARIANA
 
* KERMAN AMIR KABIR BLVD. KERMAN WELFARE ORGANIZATION, GENETIC UNIT, KERMAN IRAN
 
Abstract: 

Acrocallosal syndrome is a rare autosomal recessive disorder characterized by hypoplasia /agenesis of corpus callosum, moderate to severe mental retardation, characteristic crainioafacial abnormalities and distinctive digital malformation.
Here we report a six-year-old boy with mental retardation, dolicocephally, hypertelorism, strabismus, postaxial polydactyly and agenesis of corpus callosum.
With these finding acrocallosal syndrome was suspected and KIF7 gene sequencing was performed, revealing a homozygous deletion inexon 14 of KIF7 gene. Both parents were heterozygous carriers.

 
Keyword(s): ACROCALLOSAL SYNDROME, AGENESIS OF CORPUS CALLOSUM, MENTAL RETARDATION, KIF7
 
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