Biomaterial Database

Genetic and clinical advances in Prader-Willi syndrome. 1996

R H Wharton, and K J Loechner

Spaulding Rehabilitation Hospital, Boston, MA 02114, USA.

Prader-Willi syndrome is a developmental disorder with distinctive dysmorphic features, specific neurobehavioral attributes, and a characteristic learning profile. Advances continue to be made in understanding the factors associated with the loss of imprinted gene expression within chromosome 15q11-q13. These advances are helping providers make certain diagnoses early and are helping scientists uncover new genetic pathways. In addition, efforts to further understand the role of recombinant growth hormone therapy in Prader-Willi syndrome and the genetic information responsible for the neurobehavioral profile are additional targets for research.

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D007231	Infant, Newborn	An infant during the first 28 days after birth.	Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D008297	Male		Males
D011218	Prader-Willi Syndrome	An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229)	Labhart-Willi Syndrome,Royer Syndrome,Labhart-Willi-Prader-Fanconi Syndrome,Prader Labhart Willi Syndrome,Prader-Labhart-Willi Syndrome,Royer's Syndrome,Willi-Prader Syndrome,Labhart Willi Prader Fanconi Syndrome,Labhart Willi Syndrome,Prader Willi Syndrome,Royers Syndrome,Syndrome, Labhart-Willi,Syndrome, Labhart-Willi-Prader-Fanconi,Syndrome, Prader-Labhart-Willi,Syndrome, Prader-Willi,Syndrome, Royer,Syndrome, Royer's,Syndrome, Willi-Prader,Willi Prader Syndrome
D002675	Child, Preschool	A child between the ages of 2 and 5.	Children, Preschool,Preschool Child,Preschool Children
D002872	Chromosome Deletion	Actual loss of portion of a chromosome.	Monosomy, Partial,Partial Monosomy,Deletion, Chromosome,Deletions, Chromosome,Monosomies, Partial,Partial Monosomies
D002884	Chromosomes, Human, Pair 15	A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.	Chromosome 15
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D018392	Genomic Imprinting	The variable phenotypic expression of a GENE depending on whether it is of paternal or maternal origin, which is a function of the DNA METHYLATION pattern. Imprinted regions are observed to be more methylated and less transcriptionally active. (Segen, Dictionary of Modern Medicine, 1992)	Genetic Imprinting,Parental Imprinting,Imprinting, Genetic,Imprinting, Genomic,Imprinting, Parental