Identification of the short arm of the Y chromosome by cytogenetic and molecular analyses

Demırhan, Osman; Yılmaz, Mehmet; Tanrıverdi, Nilgün; Kocatürk-Sel, Sabriye; Erkoç, Mehmet Ali; Oksuz, Hale

doi:10.3103/s009545271701011x

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2019

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“…Individuals containing such abnormalities have been reported to have varying phenotypes such as male pseudohermaphroditism, Turner syndrome, mixed gonadal dysgenesis or may appear normal along with a range of infertility. This depends on both the complexity of the rearrangement of the derivative chromosome, the presence or absence of the SRY gene and the ratio of 45,X cell line to the other cell lines present in the proband's tissues (Barnabas et al, ; Demirhan et al, ).…”

Section: Discussionmentioning

confidence: 99%

Rare case of monocentric isochromosome Y with inversion duplication of p arm in patient diagnosed with azoospermia

2019

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A patient presenting with azoospermia was referred for genetic evaluation, and upon karyotyping, he was revealed to have two cell lines—mos46,X,ider(Y)(q10)inv(Y)(p11.3q11.1)/45,X. Further cytogenetic studies such as C banding and fluorescence in situ hybridization were performed, which revealed an inversion duplication of a segment of the Y chromosome; hence, the derivative chromosome contained two SRY genes but only one centromere. Y chromosome microdeletion studies were performed in select STS sequences of AZFa, AZFb and AZFc regions and found to be negative for microdeletions. For such a case of infertility, the couple was advised to undergo artificial reproductive techniques with the help of donor spermatozoa.

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Section: Discussionmentioning

confidence: 99%