Siblings With Deletion 22q13.3 and Trisomy 15q26 Inherited From a Maternally Balanced Translocation
We describe two siblings with generalized hypotonia, expressive language delay, developmental delay, mild facial dysmorphism, and accelerated growth. In addition, the male sibling had testis dysgenesis. Cytogenetic evaluation revealed an unbalanced maternally inherited translocation t(15;22)(q26;q13...
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| Format: | Article |
| Language: | English |
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Elsevier
2011-10-01
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| Series: | Pediatrics and Neonatology |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1875957211000982 |
| _version_ | 1811303821402439680 |
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| author | Pen-Hua Su Jia-Yuh Chen Suh-Jen Chen |
| author_facet | Pen-Hua Su Jia-Yuh Chen Suh-Jen Chen |
| author_sort | Pen-Hua Su |
| collection | DOAJ |
| description | We describe two siblings with generalized hypotonia, expressive language delay, developmental delay, mild facial dysmorphism, and accelerated growth. In addition, the male sibling had testis dysgenesis. Cytogenetic evaluation revealed an unbalanced maternally inherited translocation t(15;22)(q26;q13.3) resulting in partial monosomy 22q and trisomy 15q. The combination of deletion 22q and duplication 15q has not been described previously. |
| first_indexed | 2024-04-13T07:55:01Z |
| format | Article |
| id | doaj.art-ab0668a9b23545dfb35bbaca92128c0c |
| institution | Directory Open Access Journal |
| issn | 1875-9572 |
| language | English |
| last_indexed | 2024-04-13T07:55:01Z |
| publishDate | 2011-10-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Pediatrics and Neonatology |
| spelling | doaj.art-ab0668a9b23545dfb35bbaca92128c0c2022-12-22T02:55:26ZengElsevierPediatrics and Neonatology1875-95722011-10-0152528728910.1016/j.pedneo.2011.06.008Siblings With Deletion 22q13.3 and Trisomy 15q26 Inherited From a Maternally Balanced TranslocationPen-Hua Su0Jia-Yuh Chen1Suh-Jen Chen2Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, TaiwanDepartment of Pediatrics, Chung Shan Medical University Hospital, Taichung, TaiwanDepartment of Pediatrics, Chung Shan Medical University Hospital, Taichung, TaiwanWe describe two siblings with generalized hypotonia, expressive language delay, developmental delay, mild facial dysmorphism, and accelerated growth. In addition, the male sibling had testis dysgenesis. Cytogenetic evaluation revealed an unbalanced maternally inherited translocation t(15;22)(q26;q13.3) resulting in partial monosomy 22q and trisomy 15q. The combination of deletion 22q and duplication 15q has not been described previously.http://www.sciencedirect.com/science/article/pii/S1875957211000982accelerated growthdeletion 22qduplication 15q |
| spellingShingle | Pen-Hua Su Jia-Yuh Chen Suh-Jen Chen Siblings With Deletion 22q13.3 and Trisomy 15q26 Inherited From a Maternally Balanced Translocation Pediatrics and Neonatology accelerated growth deletion 22q duplication 15q |
| title | Siblings With Deletion 22q13.3 and Trisomy 15q26 Inherited From a Maternally Balanced Translocation |
| title_full | Siblings With Deletion 22q13.3 and Trisomy 15q26 Inherited From a Maternally Balanced Translocation |
| title_fullStr | Siblings With Deletion 22q13.3 and Trisomy 15q26 Inherited From a Maternally Balanced Translocation |
| title_full_unstemmed | Siblings With Deletion 22q13.3 and Trisomy 15q26 Inherited From a Maternally Balanced Translocation |
| title_short | Siblings With Deletion 22q13.3 and Trisomy 15q26 Inherited From a Maternally Balanced Translocation |
| title_sort | siblings with deletion 22q13 3 and trisomy 15q26 inherited from a maternally balanced translocation |
| topic | accelerated growth deletion 22q duplication 15q |
| url | http://www.sciencedirect.com/science/article/pii/S1875957211000982 |
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