Author/Authors :
özdemir, özturk canakkale onsekiz mart university - faculty of medicine - department of medical genetics, TURKEY , paksoy, barış canakkale onsekiz mart university - faculty of medicine - department of medical genetics, Turkey , gürgen, atilla canakkale onsekiz mart university - faculty of medicine - department of psychiatry, Turkey , oruç, mine canakkale onsekiz mart university - faculty of medicine - department of medical genetics, Turkey , yıldız, onur canakkale onsekiz mart university - faculty of medicine - department of medical genetics, Turkey , uysal, diğdem canakkale onsekiz mart university - faculty of medicine - department of medical genetics, Turkey , uludağ, ahmet canakkale onsekiz mart university - faculty of medicine - department of medical genetics, Turkey , silan, fatma canakkale onsekiz mart university - faculty of medicine - department of medical genetics, Turkey
Title Of Article :
An infertile case of 47,XYY syndrome without autistic spectrum: Cost effective well-define of extra Y chromosome by GTG, C bandings, QF-PCR and FISH analyses
Abstract :
The Autism Spectrum Disorders (ASD) was frequently reported in autosomal and sex chromosome abnormalities and limited findings pointed out the Y chromosome. In the current case, it was aimed to identify the genetic cause for a man without autism profiles using combined cytogenetic and molecular genetic techniques. Automated karyotype analysis was made after combined methods with GTG, C bandings, QF-PCR and FISH techniquesfor the current case. Additional Y chromosome was identified after conventional GTG and C-banded karyotype analysis. The current case of 47,XYY syndrome was reported due to without autistic profiles such as language and social impairment. The proband’s karyotype was determined as 47,XYY. No other numerical and/or structural chromosomal abnormalities were detected in the karyotype analysis. Cytogenetic methods combined with cost-effective techniques such as C, GTG banding and FISH provide well- define of extra Y chromosome in the presented case of without autistic spectrum. Both Y chromosomes were in the same size and C-banded profiles in the current proband pointed out that both are originated from one chromosome by endoreduplication Y chromosome after zigot formation.
NaturalLanguageKeyword :
Super , male syndrome , 47, XYY karyotype , without autistic spectrum , cost effective diagnosis
