46,XY,9(p24)dup(2q35q37.3) with cryptorchidism: A case report and literature review
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 id...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Health/LWW
2019-01-01
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| Series: | Reproductive and Developmental Medicine |
| Subjects: | |
| Online Access: | http://www.repdevmed.org/article.asp?issn=2096-2924;year=2019;volume=3;issue=4;spage=256;epage=259;aulast=Wu |
| _version_ | 1818471067516141568 |
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| author | Han-Zhi Wu Chao Lou Li Liu Cui-Yun Qin Hongmin Yan Rong Qiang |
| author_facet | Han-Zhi Wu Chao Lou Li Liu Cui-Yun Qin Hongmin Yan Rong Qiang |
| author_sort | Han-Zhi Wu |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-13T21:46:09Z |
| format | Article |
| id | doaj.art-3c710b959da74239b6bd2d4284287839 |
| institution | Directory Open Access Journal |
| issn | 2096-2924 2589-8728 |
| language | English |
| last_indexed | 2024-04-13T21:46:09Z |
| publishDate | 2019-01-01 |
| publisher | Wolters Kluwer Health/LWW |
| record_format | Article |
| series | Reproductive and Developmental Medicine |
| spelling | doaj.art-3c710b959da74239b6bd2d42842878392022-12-22T02:28:34ZengWolters Kluwer Health/LWWReproductive and Developmental Medicine2096-29242589-87282019-01-013425625910.4103/2096-2924.27454246,XY,9(p24)dup(2q35q37.3) with cryptorchidism: A case report and literature reviewHan-Zhi WuChao LouLi LiuCui-Yun QinHongmin YanRong QiangA 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.http://www.repdevmed.org/article.asp?issn=2096-2924;year=2019;volume=3;issue=4;spage=256;epage=259;aulast=Wuazoospermia factor; chromosome microarray analysis; cryptorchidism; karyotype; partial trisomy of chromosome |
| spellingShingle | Han-Zhi Wu Chao Lou Li Liu Cui-Yun Qin Hongmin Yan Rong Qiang 46,XY,9(p24)dup(2q35q37.3) with cryptorchidism: A case report and literature review Reproductive and Developmental Medicine azoospermia factor; chromosome microarray analysis; cryptorchidism; karyotype; partial trisomy of chromosome |
| title | 46,XY,9(p24)dup(2q35q37.3) with cryptorchidism: A case report and literature review |
| title_full | 46,XY,9(p24)dup(2q35q37.3) with cryptorchidism: A case report and literature review |
| title_fullStr | 46,XY,9(p24)dup(2q35q37.3) with cryptorchidism: A case report and literature review |
| title_full_unstemmed | 46,XY,9(p24)dup(2q35q37.3) with cryptorchidism: A case report and literature review |
| title_short | 46,XY,9(p24)dup(2q35q37.3) with cryptorchidism: A case report and literature review |
| title_sort | 46 xy 9 p24 dup 2q35q37 3 with cryptorchidism a case report and literature review |
| topic | azoospermia factor; chromosome microarray analysis; cryptorchidism; karyotype; partial trisomy of chromosome |
| url | http://www.repdevmed.org/article.asp?issn=2096-2924;year=2019;volume=3;issue=4;spage=256;epage=259;aulast=Wu |
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