TY - JOUR
T1 - De novo (15;21) unbalanced translocation of paternal origin in a girl with Preder Willi syndrome
AU - Cuoco, C.
AU - Bicocchi, M. P.
AU - Granata, D.
AU - Mezzano, P.
AU - Serra, G.
PY - 1990
Y1 - 1990
N2 - We describe a 3-month-old girl with Prader-Willi syndrome and a de novo unbalanced karyotype 45,XX,t(15;21)(q13;q22.3). This rearrangement, resulting in monosomy for the pericentromeric region of chromosome 15 and a virtual monosomy for the 21q distal band, had a paternal origin as demonstrated by Q and NOR staining.
AB - We describe a 3-month-old girl with Prader-Willi syndrome and a de novo unbalanced karyotype 45,XX,t(15;21)(q13;q22.3). This rearrangement, resulting in monosomy for the pericentromeric region of chromosome 15 and a virtual monosomy for the 21q distal band, had a paternal origin as demonstrated by Q and NOR staining.
KW - chromosome 15
KW - unbalanced translocation
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U2 - 10.1002/ajmg.1320370115
DO - 10.1002/ajmg.1320370115
M3 - Article
C2 - 2240045
AN - SCOPUS:0025126951
VL - 37
SP - 62
EP - 64
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 1
ER -