Necropsy findings in a fetus with a 46,XY,dic t(X;21)(p11.1;p11.1).
We report the findings in a fetus terminated because of multiple abnormalities diagnosed on ultrasound, including asymmetry of the limbs, a hypoplastic diaphragm, unilateral duplex kidney with a double ureter, unilateral cystic kidney, and congenital heart disease including total pulmonary atresia. Cytogenetic studies showed an unbalanced translocation of the long arm of the X chromosome to chromosome 21, resulting in a 46,XY,dic t(X;21)(p11.1;p11.1) karyotype. The cytogenetics were confirmed by non-isotopic in situ hybridisation using probes specific to pericentric alphoid repeats. Parental chromosomes were normal indicating this to be a de novo translocation. It is suggested that the inactivation of the long arm of the X chromosome has resulted in an effective monosomy for chromosome 21.
Smith
N M
NM
Department of Pathology, Adelaide Medical Centre for Women and Children, Queen Victoria Hospital, Rose Park, South Australia.
Fernandez
H
H
Chambers
H M
HM
Callen
D F
DF
D000015:Abnormalities, Multiple / Q000235:genetics*; D001201:Ascites / Q000151:congenital / Q000235:genetics; D002891:Chromosomes, Human, Pair 21; D005333:Fetus / Q000002:abnormalities*; D006547:Hernia / Q000151:congenital / Q000235:genetics; D006801:Humans; D015160:Hydrops Fetalis / Q000235:genetics / Q000473:pathology; D007668:Kidney / Q000002:abnormalities; D008297:Male; D009693:Nucleic Acid Hybridization; D014178:Translocation, Genetic / Q000235:genetics*; D014960:X Chromosome