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CASE REPORT
Year : 2019  |  Volume : 3  |  Issue : 4  |  Page : 256-259

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


Department of Genetics, Northwest Women's and Children's Hospital, Xi'an 710061, China

Correspondence Address:
Rong Qiang
Department of Genetics, Northwest Women's and Children's Hospital, No. 1616 Yanxiang Road, Xi'an 710061
China
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/2096-2924.274542

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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.


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