RESUMO
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 delation and 13/14 translocation on the one hand and spontaneous abortion on the other.
Assuntos
Aborto Espontâneo/genética , Aberrações Cromossômicas , Adulto , Cromossomos Humanos 13-15 , Feminino , Humanos , Cariotipagem , Masculino , Gravidez , Cromossomo YRESUMO
A 32-year-old woman, who presented with four spontaneous abortions, was found to have a balanced translocation: 46,XX,t(13:18)(q34:q11). In the last pregnancy an amniocentesis was done. Abnormal constitution of the fetus had been detected: 47,XY,t(13:18)(q34:q11) + 18, and an abortion was induced. Examination of the fetal tissue confirmed the finding. The fetus showed the characteristics of Edward's syndrome. Through the patient's pedigree it was discovered that balanced translocation appeared in three generations.
Assuntos
Cromossomos Humanos 13-15 , Cromossomos Humanos 16-18 , Trissomia , Anormalidades Múltiplas/genética , Feminino , Humanos , Recém-Nascido , Cariotipagem , Masculino , Linhagem , Gravidez , Translocação GenéticaRESUMO
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.
Assuntos
Deleção Cromossômica , Distúrbios Menstruais/genética , Oligomenorreia/genética , Cromossomos Sexuais , Cromossomo X , Adulto , Aberrações Cromossômicas , Bandeamento Cromossômico , Transtornos Cromossômicos , Feminino , Humanos , CariotipagemRESUMO
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 discovered balanced translocations were of the types: 13:15 (q14::q26) 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. This aberration is inherited from one of their parents.--In the examines the balanced translocations were causes of spontaneous abortions and the birth of malformed children. According to the accessible literature data, translocations with above mentioned breaks on chromosomes have not been discovered until now.