TY - JOUR
T1 - Prader-Willi syndrome with a karyotype 47,XY,+min(15)(pter->q11.1:) and maternal UPD 15 - Case report plus review of similar cases
AU - Liehr, Thomas
AU - Brude, Elke
AU - Gillessen-Kaesbach, Gabriele
AU - König, Rainer
AU - Mrasek, Kristin
AU - Von Eggeling, Ferdinand
AU - Starke, Heike
PY - 2005
Y1 - 2005
N2 - Prader-Willi (PWS) and Angelman (AS) are syndromes of developmental impairment that can result either from a 15q11-q13 deletion, paternal uniparental disomy (UPD), imprinting, or UBE3A mutations. A small cytogenetic subset of PWS and AS patients are carriers of a so-called small supernumerary marker chromosome (sSMC). Here, we report on an previously unreported PWS case with a karyotype 47,XY,+min(15)(pter->q11.1:) plus maternal heterodisomic UPD 15. A review of the literature revealed, that for both, PWS and AS patients, cases with (1) a sSMC plus microdeletion of the PWS/AS critical region, (2) inv dup(15) plus uniparental disomy (UPD) 15 and (3) cases without exclusion of a microdeletion an UBE3A mutation or UPD are described. The present case as well as the review of similar cases provides further evidence for the necessity to test UPD in prenatal cases with a de novo sSMC and in postnatal cases with otherwise unexplainable clinical phenotype.
AB - Prader-Willi (PWS) and Angelman (AS) are syndromes of developmental impairment that can result either from a 15q11-q13 deletion, paternal uniparental disomy (UPD), imprinting, or UBE3A mutations. A small cytogenetic subset of PWS and AS patients are carriers of a so-called small supernumerary marker chromosome (sSMC). Here, we report on an previously unreported PWS case with a karyotype 47,XY,+min(15)(pter->q11.1:) plus maternal heterodisomic UPD 15. A review of the literature revealed, that for both, PWS and AS patients, cases with (1) a sSMC plus microdeletion of the PWS/AS critical region, (2) inv dup(15) plus uniparental disomy (UPD) 15 and (3) cases without exclusion of a microdeletion an UBE3A mutation or UPD are described. The present case as well as the review of similar cases provides further evidence for the necessity to test UPD in prenatal cases with a de novo sSMC and in postnatal cases with otherwise unexplainable clinical phenotype.
UR - http://www.scopus.com/inward/record.url?scp=18844410816&partnerID=8YFLogxK
U2 - 10.1016/j.ejmg.2005.01.004
DO - 10.1016/j.ejmg.2005.01.004
M3 - Journal articles
C2 - 16053909
AN - SCOPUS:18844410816
SN - 1769-7212
VL - 48
SP - 175
EP - 181
JO - European Journal of Medical Genetics
JF - European Journal of Medical Genetics
IS - 2
ER -
