Down syndrome with unusual chromosome translocation: case report and review.
We report a case of Down syndrome with unusual chromosome translocation. The proband is a 1 year old male with 47, XY, der (5) t(5;21) (q11:q21), + der (5) t(5;21). The mother's karyotype was 46 XX, der (5) t(5,21) (q11:q21). The chromosome imbalance resulted from 3:1 meiotic segregation.
Bruni
L
L
Istituto di Pediatria, Universita La Sapienza di Roma, Italie.
Capolino
R
R
Tozzi
M C
MC
Colloridi
F
F
Smacchia
M P
MP
D002891:Chromosomes, Human, Pair 21; D002895:Chromosomes, Human, Pair 5; D004314:Down Syndrome / Q000235:genetics*; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D008540:Meiosis / Q000235:genetics; D014178:Translocation, Genetic