A 5-year-old white girl with Prader-Willi syndrome and a submicroscopic deletion of chromosome 15q11q13.
We report on a 5-year-old white girl with Prader-Willi syndrome (PWS) and a submicroscopic deletion of 15q11q13 of approximately 100-200 kb in size. High resolution chromosome analysis was normal but fluorescence in situ hybridization (FISH), Southern hybridization, and microsatellite data from the 15q11q13 region demonstrated that the deletion was paternal in origin and included the SNRPN, PAR-5, and PAR-7 genes from the proximal to distal boundaries of the deletion segment. SNRPN and PW71B methylation studies showed an abnormal pattern consistent with the diagnosis of PWS and supported the presence of a paternal deletion of 15q11q13 or an imprinting mutation. Biparental (normal) inheritance of PW71B (D15S63 locus) and a deletion of the SNRPN gene were observed by microsatellite, quantitative Southern hybridization, and/or FISH analyses. Our patient met the diagnostic criteria for PWS, but has no reported behavior problems, hyperphagia, or hypopigmentation. Our patient further supports SNRPN and possibly other genomic sequences which are deleted as the cause of the phenotype recognized in PWS patients.
Butler
M G
MG
Department of Pediatrics, Pathology and Orthopedics, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
Christian
S L
SL
Kubota
T
T
Ledbetter
D H
DH
D000328:Adult; D002648:Child; D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15; D019175:DNA Methylation; D005260:Female; D005819:Genetic Markers; D006579:Heterozygote; D006801:Humans; D017403:In Situ Hybridization / Q000379:methods; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007360:Intelligence / Q000235:genetics; D008297:Male; D009123:Muscle Hypotonia / Q000150:complications / Q000235:genetics; D016133:Polymerase Chain Reaction / Q000379:methods; D011218:Prader-Willi Syndrome / Q000209:etiology / Q000235:genetics*; D011247:Pregnancy; D012091:Repetitive Sequences, Nucleic Acid
D005819:Genetic Markers