Editöre Mektup

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

Cilt: 38 Sayı: 4 25 Kasım 2016
  • Öztürk Özdemir
  • Barış Paksoy
  • Atilla Gürgen
  • Mine Oruç
  • Onur Yıldız
  • Diğdem Uysal
  • Ahmet Uludağ
  • Fatma Silan
Cumhuriyet Tıp Dergisi Kapak
Cumhuriyet Tıp Dergisi
PDF İndir
TR EN

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

Öz

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

Anahtar Kelimeler

Ayrıntılar

Birincil Dil

İngilizce

Konular

Sağlık Kurumları Yönetimi

Bölüm

Editöre Mektup

Yazarlar

Barış Paksoy

Atilla Gürgen

Mine Oruç

Onur Yıldız

Diğdem Uysal

Ahmet Uludağ

Fatma Silan

Yayımlanma Tarihi

25 Kasım 2016

Gönderilme Tarihi

8 Şubat 2016

Kabul Tarihi

-

Yayımlandığı Sayı

Yıl 2016 Cilt: 38 Sayı: 4

DOI

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

IZ

https://izlik.org/JA34FA75JD

Kaynak Göster

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, vd. 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, vd. 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 (01 Kasım 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 vd., “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, c. 38, sy 4, ss. 355–360, Kas. 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 (01 Kasım 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, vd. “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, c. 38, sy 4, Kasım 2016, ss. 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. 01 Kasım 2016;38(4):355-60. doi:10.7197/cmj.v38i4.5000176115