A 12-year-child, who has intellectual disability, is having large face, large jaw, large ear and macroorchidism. Diagnosis?
Fragile X syndrome- CGG trinucleotide repeats. Intellectual disability, large face, large jaw, large ear and macro-orchidism. Cri-du chat syndrome- high pitched cry, microcephaly, intellectual disability, hypotonia Mc Cune Albright syndrome- cafe au lait pigmentation, fibrous dysplasia, endocrine dysfunction Down's syndrome- mongloid slant, epicanthal folds, depressed nasal bridge
Mc Cune Albright syndrome
Down's syndrome
Cri-du chat syndrome
Fragile X syndrome
Impoant Genetic Syndromes