Author/Authors :
VAHIDI MEHRJARDI, Mohammad Yahya Medical Genetics Research Center - Shahid Sadoughi University of Medical Sciences, Yazd , DEHGHAN TEZERJANI, Masoud Research and Clinical Center for Infertility - Shahid Sadoughi University of Medical Sciences, Yazd , NORI-SHADKAM, Mahmoud Dept. of Pediatrics - Shahid Sadoughi University of Medical Sciences, Yazd , KALANTAR, Mehdi Research and Clinical Center for Infertility - Shahid Sadoughi University of Medical Sciences, Yazd , DEHGHANI, Mohammadreza Medical Genetics Research Center - Shahid Sadoughi University of Medical Sciences, Yazd
Abstract :
The interpretation of supernumerary chromosome is important for genetic counseling and prognosis. Here, we used SNP array and conventional karyotyping method to identify a denovo marker chromosome originated from chromo-some 22 and 11 in a newborn transferred to the Neonatal Intensive Care Unit of Shahid Sadoughi Hospital in 2015. Clinical abnormalities identified in the newborn were dysmorphic face, intrauterine growth retardation, atrial septal defect (ASD), the hypoplasia of corpus callosum and septum pellucidum. These clinical abnormalities can be related to this marker, and it may help genetic counselor for predicting abnormality risk in susceptible individuals as well as pre-natal diagnosis.
Keywords :
Supernumerary marker chromosomes , Karyotype , SNP array , Partial trisomy 22 , Partial trisomy 11
