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Clinical and Genetic Analysis of an Infertile Male with 46,XX/46,XY Chimerism
Author(s) -
Choi Eun Jung,
Kim Sook Ryung,
Kim Young Joo,
Kang Soo Man,
Kim Gi Young,
Kim Jong Hyun,
Lee Young Jin
Publication year - 2019
Publication title -
andrologia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.633
H-Index - 59
eISSN - 1439-0272
pISSN - 0303-4569
DOI - 10.1111/and.13215
Subject(s) - biology , karyotype , genetics , male infertility , microsatellite , allele , infertility , chromosome , phenotype , fluorescence in situ hybridization , y chromosome , peripheral blood , andrology , immunology , pregnancy , medicine , gene
The sex chromosome‐discordant chimerism 46,XX/46,XY is rarely found in humans with a phenotypically normal appearance, and this lack of phenotypic changes and the rarity of chimerism make it difficult to identify its exact incidence. Here, we report a case of this sex chromosome‐discordant chimerism diagnosed by cytogenic and molecular analyses of peripheral blood in a phenotypically normal male who was referred to our facility for infertility. Based on the karyotype, fluorescence in situ hybridisation (FISH) and short tandem repeat (STR) analyses, the type of this chimerism was determined to be tetragametic presenting four alleles at two loci on chromosomes 16 and 21.