RESUMO
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.
Assuntos
Aborto Habitual/genética , Cromossomos Humanos 13-15 , Cromossomos Humanos 16-18 , Translocação Genética , Aborto Habitual/etiologia , Adulto , Feminino , Humanos , Cariotipagem , GravidezRESUMO
Since the problem of primary amenorrhoea (PA) is very real the authors reviewed a series of 58 women from their own laboratory, citing all known causes of PA and emphasizing that the most interesting cases are those with normal karyotype. Reinvestigation of patients with normal karyotype using the banding methods (G and R) revealed new types of structural aberrations of X chromosome. The importance of structural disturbances and rearrangements of particular segments of X chromosome in the etiology of PA has been discussed.
Assuntos
Amenorreia/genética , Aberrações Cromossômicas , Adulto , Deleção Cromossômica , Cromossomos Humanos 1-3 , Feminino , Humanos , Cromatina Sexual , Translocação Genética , Cromossomo XRESUMO
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.