An azoospermic male with a novel chromosome 46, XX, der(15)t(Y; 15)(p11.3; p12).
46, XX male
azoospermia
cytogenetics
molecular genetics
positive SRY gene
Journal
Clinical case reports
ISSN: 2050-0904
Titre abrégé: Clin Case Rep
Pays: England
ID NLM: 101620385
Informations de publication
Date de publication:
Jul 2022
Jul 2022
Historique:
received:
22
02
2022
revised:
02
06
2022
accepted:
03
06
2022
entrez:
18
7
2022
pubmed:
19
7
2022
medline:
19
7
2022
Statut:
epublish
Résumé
Male individuals with a 46, XX karyotype are commonly diagnosed with 46, XX male sex reversal syndrome, one of the rarest sex chromosomal anomalies. In this case, we report a rare XX male with Y-specific DNA sequences located near the end of chromosome 15 p-arm, which was verified by fluorescent in situ hybridization (FISH) as well as copy number variation sequencing (CNV-seq) based on the next- generation sequencing method (>100 Kb). To the best of our knowledge, there have been no reports of XX male with the Yp region transferred to the terminal of chromosome 15 short arm.
Identifiants
pubmed: 35846903
doi: 10.1002/ccr3.5984
pii: CCR35984
pmc: PMC9272210
doi:
Types de publication
Case Reports
Langues
eng
Pagination
e5984Informations de copyright
© 2022 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.
Déclaration de conflit d'intérêts
The authors declare no conflict of interest.
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