Premium
Homozygosity for a Y/22 chromosome translocation: t(Y;22) (q12;p12/13)
Author(s) -
Leschot N. J.,
Velden J. V.D.,
MarinkovicIlsen A.,
Darling S. M.,
Nijenhuis L. E.
Publication year - 1986
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1986.tb00820.x
Subject(s) - chromosomal translocation , amniocentesis , karyotype , chromosome , biology , genetics , pregnancy , autosome , chromosome 15 , fetus , prenatal diagnosis , gene
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.