Abstract:
: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.
journal_name
Andrologiajournal_title
Andrologiaauthors
Choi EJ,Kim SR,Kim YJ,Kang SM,Kim GY,Kim JH,Lee YJdoi
10.1111/and.13215subject
Has Abstractpub_date
2019-04-01 00:00:00pages
e13215issue
3eissn
0303-4569issn
1439-0272journal_volume
51pub_type
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