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When the specific non-imprint gene from the chromosome 15 of the mother s missing it leads to _________________(a) Pader Willi syndrome(b) Angelman syndrome(c) Down’s syndrome(d) Klinefelter syndromeThe question was posed to me in an international level competition.I want to ask this question from Silencing and Genomic Imprinting in section Regulating Gene Expression in Eukaryotes of Cytogenetics

Answer»

Correct OPTION is (b) Angelman SYNDROME

Explanation: In Angelman syndrome the gene in the maternal chromosome 15 REGION 15q11-q13 is MISSING which leads to the absence of any FUNCTIONAL copy of the gene at all as paternal copy is methylated and inactivated.



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