A 47,X,i(Xq),Y KARYOTYPE DETECTED KLINEFELTER SYNDROME PATIENT
Journal Name:
- İstanbul Tıp Fakültesi Dergisi
Keywords (Original Language):
| Author Name | University of Author | Faculty of Author |
|---|---|---|
Abstract (2. Language):
Klinefelter syndrome, the first described chromosomal abnormality, is characterized with hypergonadotrophic
hypogonadism and eunochoid body habitus. Its prevelance is one in 500-1000 live birth. Patients usually diagnosed
while they are evaluated for infertility. The general abnormalities of Klinefelter syndrome are eunochoid body
habitus, gynecomastia, decreased facial and pubic hair, personality and behaviourial problems. While 47,XXY
chromosome structure is detected in 80% of the patients, it is thought that 20% of the patients have another numerical
chromosomal abnormality. There is no clear data about the prevalence of structural chromosomal abnormalities,
particularly isochromosome Xq, but its prevalence among Klinefelter syndrome patients is estimated to be 3-
9%. In this case report we present clinical and laboratory findings of a Klinefelter syndrome patient who came to
our clinics because of infertility and found to have 47,X,i(Xq),Y karyotype in conventional cytogenetic analyse.
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Abstract (Original Language):
Klinefelter sendromu ilk tan›mlanan kromozom anomalisi olup temel olarak hipergonadotropik hipogonadizm ve
önükoid vücut yap›s› ile karakterizedir. S›kl›¤› 500-1000 canl› do¤umda birdir. Olgular s›kl›kla infertilite nedeniyle
yap›lan incelemeler s›ras›nda tan› al›rlar. Klinefelter sendromunun genel özelliklerini uzun boy, önükoid vücut
yap›s›, jinekomasti, azalm›fl testis volümü, yetersiz yüz ve pubik k›llanma, kiflilik ve davran›fl problemleri olarak s›-
ralayabiliriz. 47,XXY kromozom kuruluflu olgular›n % 80’inde mevcut iken 47,XXY d›fl› say›sal kromozom anomalilerinin
tüm olgular içindeki oran›n›n % 20 oldu¤u düflünülmektedir. ‹zokromozom Xq gibi yap›sal kromozom
anomalilerinin s›kl›¤› konusunda net bir bilgi olmamakla birlikte s›kl›¤›n›n tüm Klinefelter sendromlu olgular›n %
0,3-0,9`unu oluflturdu¤u tahmin edilmektedir. Bu olgu sunumunda infertilite nedeniyle klini¤imize baflvuran ve
konvansiyonel sitogenetik analiz sonucunda karyotipi 47,X,i(Xq),Yolarak saptanan Klinefelter sendromlu bir hastan›
n klinik ve laboratuar bulgular› tarif edilmektedir
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