Browsing by Author "Adzic, S. (6602891227)"

Cytogenetic investigations of three married couples, having had spontaneous abortions, was carried out, and an abnormal chromosomal complement was established in one of the spouses. The balanced translocations were of the types: 13/15 (q14:126) and 13/18 (q34:q11). The same type of translocations 13/18 (q24:q11) was detected in two other couples. The translocation carriers are brother and sister. In the cases examined the balanced translocations were causes of spontaneous abortions and the birth of malformed children. According to the accessible literature data, translocations with the above-mentioned breaks on chromosomes have not been discovered until now.

Our cytogenetic investigations have been carried out on 200 people with difficulties in reproduction consisting of 30 couples who were sterile and 70 couples who had spontaneous abortions. The results that we have obtained showed the following chromosome abnormalities: trisomy XXY, translocation of type 13:14, pericentric inversions of chromosome 9, translocation X:9 (q24:q34) and deletion of chromosome X (delq 23). In this series of patients we have obtained the following chromosome variations: 9qh+, Yq- and Yq+, 14s+ and 21s+. The causal role of these abnormalities and chromosome variations on the failure of reproduction is discussed.

In the Laboratory for Human Cytogenetics of the University Hospital Department of Gynecology and Obstetrics in Beograd a cytogenetic analysis of 30 families with spontaneous abortion was performed. In two families structural chromosome aberrations - Y chromosome deletion and 13/14 translocation - were detected. Phenotypic normal male members of one family revealed the same type of deletion of the larger part of the distal region of the long Y chromosome arm (46, X, del (Y) (q12)). In the other family, in a phenotypically normal parent, a balanced translocation (45, XY, t(13/14)) was observed. The authors discuss the correlation between structural aberrations, Yq deletion and 13/14 translocation on the one hand and spontaneous abortion on the other.

A balanced de novo translocation X;9(q24;q34) was discovered in a 21-year-old girl with oligomenorrhoea. The structurally normal X was late replicating in all cells. The results indicate that an X chromosome breakpoint at q24 provokes ovary dysfunction.

A balanced de novo translocation X;9(q24;q34) was discovered in a 21-year-old girl with oligomenorrhoea. The structurally normal X was late replicating in all cells. The results indicate that an X chromosome breakpoint at q24 provokes ovary dysfunction.

A 35-year-old female patient with oligomenorrhoea had a deletion of the long arm of the X chromosome. The breakpoint at band q23 caused infertility in spite of excessive pituitary stimulation. The aberrant X chromosome was inactivated in all cells analysed. Deletion of the long arm of the X chromosome is one of the most frequent structural aberrations of this chromosome. Fertility and reproduction are affected by these chromosomal anomalies. This paper presents a patient with a deletion of the long arm of the X chromosome and oligomenorrhoea.

A 35-year-old female patient with oligomenorrhoea had a deletion of the long arm of the X chromosome. The breakpoint at band q23 caused infertility in spite of excessive pituitary stimulation. The aberrant X chromosome was inactivated in all cells analysed. Deletion of the long arm of the X chromosome is one of the most frequent structural aberrations of this chromosome. Fertility and reproduction are affected by these chromosomal anomalies. This paper presents a patient with a deletion of the long arm of the X chromosome and oligomenorrhoea.