PP07. BALANCED TRANLOCATION 14q21q IN A PATIENT WITH KLINEFELTER SYNDROME
A. BABAMETO-LAKU, V. Mokin, M. Cikuli, A. Mitre Medical Genetic Service, University Hospital Center “Mother Teresa”, Faculty of Medicine, Tirana, Albania e-mail: laku62@yahoo.com
*Corresponding Author:
page: 51

Abstract

Klinefelter syndrome is the most prevalent sex chromosome disorder in man and the common cause of hypogonadism and infertility. There are several variants of Klinefelter syndrome, with karyotypes other than 47,XXY but the co-occurrence of this aneuploidy with a structural chromosomal abnormality in the same individ is very rare. We report on a 26- year old patient, who presented infertility.

On clinical examination he presented altered body proportions; long limbs, with low upper to lower segment ratio and span less than to height, relatively tall and slim stature, small atrophic testes, incomplete virilization, impaired spermatogenesis (azoospermia). Gynecomastia wasn’t observed and intelligence was in normal level. Ultrasonography of the testicles and hormonal evaluation was performed. He had elevated plasma gonadotropin levels and low level of testosteron.

Diagnosis was based on karyotype analysis with G and R-banding. Karyotyping analysis showed : 46,XXY, t(14q21q). He had Klinefelter syndrome XXY, but also an autosomic balanced translocation, so he resulted with 46 chromosomes. The translocation wasn’t transmited from the parents, but both a meiotic nondisjunction and a structural rearrangement (Robertsonian translocation) was happened. Chromosomal aberrations involving both aneuploidy and structural abnormalities are rare and interesting to describe.



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