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
Journal Title: Cumhuriyet Medical Journal - Year 2016, Vol 38, Issue 4
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
Authors and Affiliations
Özturk Özdemir, Barış Paksoy, Atilla Gürgen, Mine Oruç, Onur Yıldız, Diğdem Uysal, Ahmet Uludağ, Fatma Silan
Keywords
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- EP ID EP238307
- DOI 10.7197/cmj.v38i4.5000176115
- Views 137
- Downloads 0
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