Browsing by Author "Markovic, S. (24454093000)"

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.

The infant presented was born at term. His weight was 2500 g and length 47 cm. He showed marked hypertelorism, deformed low set ears, short neck, and cleft of hard and soft palates. The mouth was small. The right leg was less well developed and hypoplastic, and there was pes equinovarus. He had hypoxia, had difficulties in adapting to extrauterine life, and died 4 days later. The findings were actue bilateral intra-alveolar bronchopneumonia, massive atelectasis, pulmonary oedema, compensating emphysema, acute hyperaemia, and mild internal hydrocephalus. Analysis of blood lymphocyte chromosomes showed an interstitial deletion (q31→q35) of the long arm of chromosome 2. Both parents had a normal chromosome complement. Taysi et al compared the clinical findings of four reported patients with 2q deletion including their own case. Different regions of the long arm of chromosome 2 were involved. One of these probands was found to have the deletion at 2q31→q33 and another, described by Warter et al, showed a 2q34→q36 deletion. Our proband's breakpoint was at 2q31→2q35. The common features were: intrauterine growth retardation, large malformed low set ears, and abnormalities of the central nervous system. While the CNS anomalies in the reported cases included microcephaly, our proband was found to have internal hydrocephalus of a mild degree, in addition to small head size.

The infant presented was born at term. His weight was 2500 g and length 47 cm. He showed marked hypertelorism, deformed low set ears, short neck, and cleft of hard and soft palates. The mouth was small. The right leg was less well developed and hypoplastic, and there was pes equinovarus. He had hypoxia, had difficulties in adapting to extrauterine life, and died 4 days later. The findings were actue bilateral intra-alveolar bronchopneumonia, massive atelectasis, pulmonary oedema, compensating emphysema, acute hyperaemia, and mild internal hydrocephalus. Analysis of blood lymphocyte chromosomes showed an interstitial deletion (q31→q35) of the long arm of chromosome 2. Both parents had a normal chromosome complement. Taysi et al compared the clinical findings of four reported patients with 2q deletion including their own case. Different regions of the long arm of chromosome 2 were involved. One of these probands was found to have the deletion at 2q31→q33 and another, described by Warter et al, showed a 2q34→q36 deletion. Our proband's breakpoint was at 2q31→2q35. The common features were: intrauterine growth retardation, large malformed low set ears, and abnormalities of the central nervous system. While the CNS anomalies in the reported cases included microcephaly, our proband was found to have internal hydrocephalus of a mild degree, in addition to small head size.

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.