Rare case of monocentric isochromosome Y with inversion duplication of p arm in patient diagnosed with azoospermia.
azoospermia
infertility
inversion duplication
isochromosome
Journal
Andrologia
ISSN: 1439-0272
Titre abrégé: Andrologia
Pays: Germany
ID NLM: 0423506
Informations de publication
Date de publication:
Mar 2020
Mar 2020
Historique:
received:
17
05
2019
revised:
25
07
2019
accepted:
21
08
2019
pubmed:
14
12
2019
medline:
20
11
2020
entrez:
14
12
2019
Statut:
ppublish
Résumé
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.
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
e13501Informations de copyright
© 2019 Blackwell Verlag GmbH.
Références
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