Aplastic Anemia in a Male with Loss of the Y Chromosome.

Matsuguchi, Tetsuya; Gotô, Hiroshi; Fukumoto, Tazuru; Okamura, Seiichi; Niho, Yoshiyuki

doi:10.2169/internalmedicine.31.273

Cited by 1 publication

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“…Matsuguchi, Goto, Fukumoto, Okamura, and Niho (1992) reported a case of male aplastic anemia, in which all bone marrow cells had 45,X karyotype, showing loss of Y chromosome in all bone marrow cells, and peripheral blood examination revealed that the 45,X karyotype accounted for 10%. In the present study, the probands of the three pedigrees showed a different percentage of retention of the inverted Y chromosome in terms of chromosome karyotype for peripheral blood, specifically 87% in the proband of pedigree A, 15% in the proband of pedigree B, and 78% in the proband of pedigree C. This indicates that, when mosaicism is observed in the chromosome karyotype of peripheral blood in the adult male members of the immediate relatives of the three pedigrees (namely, probands, fathers, and brothers in pedigrees A, B, and C), the inverted Y chromosome was lost from certain cells after fertilization.…”

Section: Discussionmentioning

confidence: 99%

Three patients with 46,X,inv(Y)(p11.2q11.2)pat/45,X and their pedigree analysis

Chen

Cao

et al. 2020

Annals of Human Genetics

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The present study aimed to perform chromosome examination and pedigree analysis on three patients with semen abnormality who had undergone in vitro fertilization–embryo transfer (IVF‐ET). Peripheral blood cell culture and chromosome karyotyping were performed on 4,200 individuals who had undergone chromosome examination. Among them, 155 pregnant women who had successfully conceived were subjected to amniotic cell culture and chromosome karyotyping and those with abnormal chromosome karyotype were further subjected to C‐banding and whole‐genome sequencing. Mosaicism for a 46,X,inv(Y)(p11.2q11.2)pat/45,X karyotype was identified in the probands and immediate adult male relatives. The incidence of this mosaicism in the study population was only 0.07% (3/4,200), which is reported for the first time. For the proband of pedigree A, the results of whole‐genome sequencing and other tests were normal, and the chromosome karyotype of IVF fetuses was 46,X,inv(Y)(p11.2q11.2)pat. All the male members of three pedigrees have normal phenotypes, with no features of Turner's syndrome (45,X) or hermaphroditism (45,X/46,XY), suggesting that the inverted Y chromosome is extremely unstable and particularly susceptible to loss in somatic cells. So we speculate this karyotype may be a unique type of inverted Y chromosome in somatic cells.

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Section: Discussionmentioning

confidence: 99%