46,XY,9(p24)dup(2q35q37.3) with cryptorchidism: A case report and literature review

Autor:	Han-Zhi Wu, Chao Lou, Li Liu, Cui-Yun Qin, Hongmin Yan, Rong Qiang
Jazyk:	angličtina
Rok vydání:	2019
Předmět:	azoospermia factor chromosome microarray analysis cryptorchidism karyotype partial trisomy of chromosome Immunologic diseases. Allergy RC581-607 Diseases of the endocrine glands. Clinical endocrinology RC648-665
Zdroj:	Reproductive and Developmental Medicine, Vol 3, Iss 4, Pp 256-259 (2019)
Druh dokumentu:	article
ISSN:	2096-2924 2589-8728
DOI:	10.4103/2096-2924.274542
Popis:	A young boy with a facial abnormality was brought to our genetics clinic. Physical examination found bilateral cryptorchidism. Several clinical genetic tests, including chromosome microarray analysis (CMA), karyotyping, and azoospermia factor (AZF) microdeletions on the Y chromosome, were used to identify the genetic basis for this abnormality. The karyotype showed a duplication of the chromosome 2q35q37.3 fragment attached to chromosome 9(p24); CMA revealed 2q35q37.3(220,558,895-243,006,013)x3; the Y chromosome showed no AZF microdeletions; and the parent karyotypes were normal. Surgery has been planned to correct cryptorchidism a year after the original examination. A similar case was found previously.
Databáze:	Directory of Open Access Journals
Externí odkaz:	https://doaj.org/article/3c710b959da74239b6bd2d4284287839 Zobrazit plný text záznamu View record in DOAJ