title: Cryptorchidism due to chromosome 5q inversion duplication.
abstract: We present a 15 year old boy who was born out of a non consanguineous marriage, and presented with bilateral cryptorchidism, mental retardation, facial dysmorphism, hypergonadotrophic hypogonadism with failure of anatomical and biochemical localisation of testes. Karyotype analysis showed 46 XY with inverted duplication on chromosome 5q22-31.
authors: M K
authors: MK
authors: Dutta
authors: A
authors: A
authors: Gundgurthi
authors: M K
authors: MK
authors: Garg
authors: R
authors: R
authors: Pakhetr
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D058674:Chromosome Duplication; D007446:Chromosome Inversion; D002895:Chromosomes, Human, Pair 5; D003456:Cryptorchidism / Q000235:genetics*; D019066:Facies; D006801:Humans; D007006:Hypogonadism / Q000235:genetics*; D059785:Karyotype; D008297:Male