Abstract
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.
| Original language | English |
|---|---|
| Pages (from-to) | 62-64 |
| Number of pages | 3 |
| Journal | American Journal of Medical Genetics |
| Volume | 37 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - 1990 |
Fingerprint
Keywords
- chromosome 15
- unbalanced translocation
ASJC Scopus subject areas
- Genetics(clinical)
Cite this
De novo (15;21) unbalanced translocation of paternal origin in a girl with Preder Willi syndrome. / Cuoco, C.; Bicocchi, M. P.; Granata, D.; Mezzano, P.; Serra, G.
In: American Journal of Medical Genetics, Vol. 37, No. 1, 1990, p. 62-64.Research output: Contribution to journal › Article
}
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
UR - http://www.scopus.com/inward/record.url?scp=0025126951&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0025126951&partnerID=8YFLogxK
U2 - 10.1002/ajmg.1320370115
DO - 10.1002/ajmg.1320370115
M3 - Article
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 -