Genotype-phenotype correlation in a series of 167 deletion and non-deletion patients with Prader-Willi syndrome.
A total of 167 patients with Prader-Willi syndrome (PWS) was studied at the clinical and molecular level. Diagnosis was confirmed by the PW71 methylation test. Quantitative Southern blot hybridizations with a probe for the small nuclear ribonucleoprotein N were performed to distinguish between patients with a deletion (116 patient or 69.5%) and patients without a deletion (51 patients or 30.5%). These two types of patients differed with respect to the presence of hypopigmentation, which was more frequent in patients with a deletion (52%) than in patients without (23%), and to average birth weight of females and males, which was lower in patients with a deletion than in patients without. Newborns with PWS had a lower birth weight and length at term, but normal head circumference in comparison with a control group. This finding aids the identification of the neonatal phenotype. In addition, our data confirm an increased maternal age in the non-deletion group.
Institut für Humangenetik, Universitätsklinikum Essen, Germany.
G
G
Gillessen-Kaesbach
W
W
Robinson
D
D
Lohmann
S
S
Kaya-Westerloh
E
E
Passarge
B
B
Horsthemke
D000293:Adolescent; D000328:Adult; D000886:Anthropometry; D001724:Birth Weight; D002585:Cesarean Section; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002896:Chromosomes, Human, Pair 6; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008423:Maternal Age; D010331:Paternal Age; D010641:Phenotype; D012150:Polymorphism, Restriction Fragment Length; D011218:Prader-Willi Syndrome / Q000235:genetics*; D011247:Pregnancy; D011544:Pseudogenes; D012016:Reference Values; D012727:Sex Characteristics