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

• Main Authors: Han-Zhi Wu, Chao Lou, Li Liu, Cui-Yun Qin, Hongmin Yan, Rong Qiang
• Format: Article
• Language: English
• Published: Wolters Kluwer Medknow Publications 2019-01-01
• Series: Reproductive and Developmental Medicine
• Subjects: azoospermia factor; chromosome microarray analysis; cryptorchidism; karyotype; partial trisomy of chromosome
• Online Access: http://www.repdevmed.org/article.asp?issn=2096-2924;year=2019;volume=3;issue=4;spage=256;epage=259;aulast=Wu

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.