Neonatal diagnosis of Prader-Willi syndrome and its implications.
Although Prader-Willi syndrome (PWS) patients usually first present with neonatal hypotonia and feeding difficulty, they later show hyperphagia, obesity and mental retardation. Since deletions of chromosomes 15q11-q13 are noted in most PWS patients cytogenetic analysis allows one to diagnose infants suspected of PWS with a greater certainty. We report on 5 hypotonic infants clinically suspected of PWS in the first 3 months of life, whose diagnosis was confirmed by cytogenetic studies showing monosomy of 15q11-q13. Early diagnosis of PWS can lead to prevention of obesity, but counseling of parents has been difficult. Although there are significant benefits to the early diagnosis of PWS, the cost-effectiveness and practicality of screening all hypotonic infants using high resolution cytogenetic analysis has been addressed systematically.
Greenberg
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Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas 77030.
Elder
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Ledbetter
D H
DH
D002657:Child Development; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000175:diagnosis; D002871:Chromosome Banding; D025063:Chromosome Disorders; D002874:Chromosome Mapping; D002884:Chromosomes, Human, Pair 15; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D011218:Prader-Willi Syndrome / Q000175:diagnosis* / Q000235:genetics