TY - JOUR
T1 - Genotype-phenotype correlation in a series of 167 deletion and non-deletion patients with Prader-Willi syndrome
AU - Gillessen-Kaesbach, Gabriele
AU - Robinson, Wendy
AU - Lohmann, Dietmar
AU - Kaya-Westerloh, Sabine
AU - Passarge, Eberhard
AU - Horsthemke, Bernhard
PY - 1995/12
Y1 - 1995/12
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=0028892266&partnerID=8YFLogxK
U2 - 10.1007/BF00210291
DO - 10.1007/BF00210291
M3 - Journal articles
C2 - 8522319
AN - SCOPUS:0028892266
SN - 0340-6717
VL - 96
SP - 638
EP - 643
JO - Human Genetics
JF - Human Genetics
IS - 6
ER -
