Homozygosity for a Y/22 chromosome translocation: t(Y;22) (q12;p12/13).
A newborn girl, homozygous for a balanced Y/22 chromosome translocation is described. This unique karyotype was detected during prenatal chromosome studies in the first pregnancy of a 26-year-old woman. Amniocentesis was performed because of clinical evaluation of severe fetal growth retardation in the 28th week of gestation. The cytogenetic results were confirmed using a lymphocyte culture after birth in the 30th week. Subsequent chromosome studies of the parents were hampered by the fact that the pregnancy was thought to be the result of artificial insemination with donorsperm. Nevertheless both, consanguineous, parents were shown to be carriers of the same, singular, chromosome translocation and the spermdonor could be excluded from paternity by bloodgroup- and HLA studies. Distamycin-A-DAPI chromosome staining and DNA studies of the mother were used to confirm the involvement of the Y-chromosome in this translocation. The probanda is developing quite normally at the age of 21 months.
Leschot
N J
NJ
von den Velden
J
J
Marinkovic-Ilsen
A
A
Darling
S M
SM
Nijenhuis
L E
LE
D000328:Adult; D000649:Amniocentesis; D002478:Cells, Cultured; D002869:Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics*; D025063:Chromosome Disorders; D002904:Chromosomes, Human, 21-22 and Y / Q000648:ultrastructure*; D003241:Consanguinity; D004247:DNA / Q000032:analysis; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D008214:Lymphocytes / Q000648:ultrastructure; D010334:Paternity; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014178:Translocation, Genetic; D014998:Y Chromosome / Q000648:ultrastructure*
D004247:DNA