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SUMMARY 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 Keywords: Super-male syndrome; 47,XYY karyotype; without autistic spectrum; cost effective diagnosis OZET Otistik spektrum bozukluklarinin, otozomal ve seks kromozom bozuklukluklari ile birlikteligi bircok kez rapor edilmekle birlikte sinirli sayida literatur bilgisi Y kromozomunu isaret etmektedir. Biz bu sunumda sitogenetik ve molekuler genetik tekniklerinin birlikte kullanimi ile otistik bulgulari olmayan bir super-erkek olgunun dogru ve etkin tani almasinin onemini raporlamayi amacladik. Bu olguda, lenfosit hucre kulturu ile elde edilen metafaz ornekleri GTG, C bantlama, QF-PCR ve FISH yontemleri ile otomatik karyotiplemeleri yapildi. Dil ve sosyal islev bozukluklari gibi otistik spektrum bulgulari olmayan olgumuzun sitogenetik ve molekuler genetik analizler sonrasinda ekstra Y kromozomu tasidigi ve 47,XYY(super-erkek) karyotipinde oldugu anlasilmistir. Olgunun, yapilan ayrintili karyotip analizinde baska bir sayisal ve/veya yapisal kromozom anomalisine rastlanmamistir. Olgunun sahip oldugu ekstra Y kromozomu, GTG, C bantlama, FISH ve QF-PCR teknikleri birlikte kullanilarak hastanin etkin ve dogru tani almasi saglanmistir. Olguda saptanan her iki Y kromozomun benzer boyut ve C bant paterninde olmasi, ekstra Y kromozomun yine babadan gelen normal Y kromozomun zigot sonrasi endoredublikasyonundan  kaynaklanabilecegi tartisilmistir. Anahtar sozcukler: Otistik olmayan super-erkek sendromu; 47, XYY karyotip;  etkin-gecerli tani

cumhuriyet tıp dergisi/cumhuriyet üniversitesi tıp fakültesi dergisi

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