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

Öztürk Özdemir; Barış Paksoy; Atilla Gürgen; Mine Oruç; Onur Yıldız; Diğdem Uysal; Ahmet Uludağ; Fatma Silan

doi:10.7197/cmj.v38i4.5000176115

TR EN

Otistik bulguları olmayan infertil 47, XYY olgusu: Ekstra Y kromozomun GTG, C bantlama, QF-PCR ve FISH analizi yöntemleri ile etkin ve doğru tespiti

Abstract

Otistik spektrum bozukluklarının, otozomal ve seks kromozom bozukluklukları ile birlikteliği birçok kez rapor edilmekle birlikte sınırlı sayıda literatür bilgisi Y kromozomunu işaret etmektedir. Biz bu sunumda sitogenetik ve moleküler genetik tekniklerinin birlikte kullanımı ile otistik bulguları olmayan bir super-erkek olgunun doğru ve etkin tanı almasının önemini raporlamayı amaçladık. Bu olguda, lenfosit hücre kültürü ile elde edilen metafaz örnekleri GTG, C bantlama, QF-PCR ve FISH yöntemleri ile otomatik karyotiplemeleri yapıldı. Dil ve sosyal işlev bozuklukları gibi otistik spektrum bulguları olmayan olgumuzun sitogenetik ve moleküler genetik analizler sonrasında ekstra Y kromozomu taşıdığı ve 47,XYY(super-erkek) karyotipinde olduğu anlaşılmıştır. Olgunun, yapılan ayrıntılı karyotip analizinde başka bir sayısal ve/veya yapısal kromozom anomalisine rastlanmamıştır. Olgunun sahip olduğu ekstra Y kromozomu, GTG, C bantlama, FISH ve QF-PCR teknikleri birlikte kullanılarak hastanın etkin ve doğru tanı alması sağlanmıştır. Olguda saptanan her iki Y kromozomun benzer boyut ve C bant paterninde olması, ekstra Y kromozomun yine babadan gelen normal Y kromozomun zigot sonrası endoredublikasyonundan kaynaklanabileceği tartışılmıştır.

Keywords

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

Keywords

Details

Primary Language

English

Subjects

Health Care Administration

Journal Section

Letter to Editor

Authors

Öztürk Özdemir

Barış Paksoy

Atilla Gürgen

Mine Oruç

Onur Yıldız

Diğdem Uysal

Ahmet Uludağ

Fatma Silan

Publication Date

November 25, 2016

Submission Date

February 8, 2016

Acceptance Date

-

Published in Issue

Year 2016 Volume: 38 Number: 4

DOI

https://doi.org/10.7197/cmj.v38i4.5000176115

IZ

https://izlik.org/JA34FA75JD

Cite

RIS / Bibtex

APA

Özdemir, Ö., Paksoy, B., Gürgen, A., Oruç, M., Yıldız, O., Uysal, D., Uludağ, A., & Silan, F. (2016). 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. Cumhuriyet Medical Journal, 38(4), 355-360. https://doi.org/10.7197/cmj.v38i4.5000176115

AMA

1.Özdemir Ö, Paksoy B, Gürgen A, et al. 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. CMJ. 2016;38(4):355-360. doi:10.7197/cmj.v38i4.5000176115

Chicago

Özdemir, Öztürk, Barış Paksoy, Atilla Gürgen, et al. 2016. “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”. Cumhuriyet Medical Journal 38 (4): 355-60. https://doi.org/10.7197/cmj.v38i4.5000176115.

EndNote

Özdemir Ö, Paksoy B, Gürgen A, Oruç M, Yıldız O, Uysal D, Uludağ A, Silan F (November 1, 2016) 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. Cumhuriyet Medical Journal 38 4 355–360.

IEEE

[1]Ö. Özdemir et al., “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”, CMJ, vol. 38, no. 4, pp. 355–360, Nov. 2016, doi: 10.7197/cmj.v38i4.5000176115.

ISNAD

Özdemir, Öztürk - Paksoy, Barış - Gürgen, Atilla - Oruç, Mine - Yıldız, Onur - Uysal, Diğdem - Uludağ, Ahmet - Silan, Fatma. “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”. Cumhuriyet Medical Journal 38/4 (November 1, 2016): 355-360. https://doi.org/10.7197/cmj.v38i4.5000176115.

JAMA

1.Özdemir Ö, Paksoy B, Gürgen A, Oruç M, Yıldız O, Uysal D, Uludağ A, Silan F. 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. CMJ. 2016;38:355–360.

MLA

Özdemir, Öztürk, et al. “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”. Cumhuriyet Medical Journal, vol. 38, no. 4, Nov. 2016, pp. 355-60, doi:10.7197/cmj.v38i4.5000176115.

Vancouver

1.Öztürk Özdemir, Barış Paksoy, Atilla Gürgen, Mine Oruç, Onur Yıldız, Diğdem Uysal, Ahmet Uludağ, Fatma Silan. 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. CMJ. 2016 Nov. 1;38(4):355-60. doi:10.7197/cmj.v38i4.5000176115