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Two related but distinct neurological disorders are Prader-Willi syndrome (PWS)

ID: 267306 • Letter: T

Question

Two related but distinct neurological disorders are Prader-Willi syndrome (PWS) and Angelman syndrome (AS). Children with PWS are obese, have weak muscle tone, and delayed development. Children with AS have a severe speech impairment, developmental delay, intellectual disability, and problems with movement and balance. However, both disorders are due to the deletion of the same part of chromosome 15. Hypothesize as to how this is possible.

Two related but distinct neurological disorders are Prader-Willi syndrome (PWS) and Angelman syndrome (AS). Children with PWS are obese, have weak muscle tone, and delayed development. Children with AS have a severe speech impairment, developmental delay, intellectual disability, and problems with movement and balance. However, both disorders are due to the deletion of the same part of chromosome 15. Hypothesize as to how this is possible.

Explanation / Answer

Both parder-willi syndrome and angelman syndrome is arise due to the deletion on the chromosome number 15 and q arm. Genes for both the syndrome are located very close to each other and shares same deletion but have different phenotypic abnormalities. Here one gene copy is remain inactivated which alters the phenotypic characteristic. For example in PWS the maternally derived copy of the gene remain silent while in AMS the paternally derived copy of the gene remain silent. However both the syndromes are arise due to same deletion on chromosome 15, it depends on which active copy of gene is deleted. On the basis of genetic imprinting, phenotypic difference is altered in each syndrome.

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