Third Prader-Willi syndrome phenotype due to maternal uniparental disomy 15 with mosaic trisomy 15

We report on a boy with mosaicism for trisomy 15 and Prader‐Willi syndrome (PWS) due to maternal isodisomy for chromosome 15. His phenotype is consistent with PWS and trisomy 15 mosaicism. Although our patient is unusual in having maternal isodisomy rather than the more common maternal heterodisomy,...

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Bibliographic Details
Published in:American journal of medical genetics 2000-07, Vol.93 (3), p.215-218
Main Authors: Olander, Erika, Stamberg, Judith, Steinberg, Lisa, Wulfsberg, Eric A.
Format: Article
Language:English
Subjects:
Biological and medical sciences
Chromosome Aberrations
chromosome abnormality
Chromosomes, Human, Pair 15
Complex syndromes
congenital heart disease
Ductus Arteriosus, Patent - genetics
Female
Genotype
Heart Septal Defects, Atrial - genetics
Heart Septal Defects, Ventricular - genetics
Humans
Infant
Intellectual Disability - genetics
Karyotyping
Male
Medical genetics
Medical sciences
mental retardation
Mothers
Phenotype
Prader-Willi Syndrome - classification
Prader-Willi Syndrome - diagnosis
Prader-Willi Syndrome - genetics
Prader-Willi Syndrome - pathology
trisomic rescue
Trisomy
uniparental disomy
ventricular septal defect
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Summary:We report on a boy with mosaicism for trisomy 15 and Prader‐Willi syndrome (PWS) due to maternal isodisomy for chromosome 15. His phenotype is consistent with PWS and trisomy 15 mosaicism. Although our patient is unusual in having maternal isodisomy rather than the more common maternal heterodisomy, we think that his more severe PWS phenotype is due to his trisomy 15 mosaicism rather than to homozygosity for deleterious chromosome 15 genes. We propose that individuals with PWS have one of three similar but distinctive phenotypes depending on the cause of their condition. Patients with paternal deletions have the typical PWS phenotype, patients with maternal UPD have a slightly milder phenotype with better cognitive function, and those with maternal UPD and mosaic trisomy 15 have the most severe phenotype with a high incidence of congenital heart disease. These phenotype–genotype differences are useful to guide the work‐up of patients with suspected PWS and to provide prognostic counseling for families. Am. J. Med. Genet. 93:215–218, 2000. © 2000 Wiley‐Liss, Inc.
ISSN:0148-7299
1096-8628
DOI:10.1002/1096-8628(20000731)93:3<215::AID-AJMG11>3.0.CO;2-K