Premium
Rare case of an oligospermic male with 46,XX/46,XY tetragametic chimerism
Author(s) -
Magharehabed Mahshad,
Almadani Navid,
Askari Masomeh,
Naji Masoumeh,
Akbari Arvand,
Gourabi Hamid,
Sedighi Gilani Mohammad Ali,
Reyhani Sabet Fakhredin,
Masoudi NajmehSadat,
Totonchi Mehdi
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.13290
Subject(s) - buccal swab , biology , karyotype , x chromosome , genetics , genotype , andrology , semen analysis , chromosome , infertility , pregnancy , gene , medicine
Chimerism, a rare human disorder, is assumed to be the result of an amalgamation of two separate zygotes in a single embryo. Studies have shown that the phenotypic spectrum of chimerism is variable and there is no definite genotype–phenotype correlation in patients with chimerism, therefore a majority of cases might remain undiagnosed. This study aims to investigate the possible mechanism of the chimerism in a 46,XX/46,XY infertile and phenotypically normal male, with 46,XX blood karyotype and normal spermatogenesis. We have used Interphase‐FISH analysis to study the CEPX and CEPY regions on buccal and urine samples as well as molecular analysis of polymorphic short tandem repeats (STR) markers from 34 loci in order to discover the origin of 46,XX/46,XY. Analysis of X‐linked and autosomal STR markers on blood, buccal tissue, urine, fibroblast and testis biopsy samples of the proband along with the blood sample of the patient's parents and siblings, showed divergent karyotypes in different tissues and tetragametic chimerism was diagnosed.