A case of partial trisomy 3p syndrome with rare clinical manifestations
Partial trisomy 3p results from either unbalanced translocation or de novo duplication. Common clinical features consist of dysmorphic facial features, congenital heart defects, psychomotor and mental retardation, abnormal muscle tone, and hypoplastic genitalia. In this paper, we report a case of pa...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Korean Pediatric Society
2012-03-01
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| Series: | Korean Journal of Pediatrics |
| Subjects: | |
| Online Access: | http://kjp.or.kr/upload/pdf/kjped-55-107.pdf |
| _version_ | 1818142024333787136 |
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| author | Dong Hoon Han Ji Young Chang Woo In Lee Chong Woo Bae |
| author_facet | Dong Hoon Han Ji Young Chang Woo In Lee Chong Woo Bae |
| author_sort | Dong Hoon Han |
| collection | DOAJ |
| description | Partial trisomy 3p results from either unbalanced translocation or de novo duplication. Common clinical features consist of dysmorphic facial features, congenital heart defects, psychomotor and mental retardation, abnormal muscle tone, and hypoplastic genitalia. In this paper, we report a case of partial trisomy 3p with rare clinical manifestations. A full-term, female newborn was transferred to our clinic. She had cleft lip-plate, dysgenesis of the corpus callosum, patent ductus arteriosus, pulmonary hypertension, and severe right-sided hydronephrosis, associated with ureteropelvic junction obstruction. Cytogenetic investigation revealed partial trisomy 3p; 46,XX,der(4)t(3;4) (p21.1;p16). The karyotype of her father showed a balanced translocation, t(3;4)(p21.1;p16). Therefore, the size of duplication can be an important factor. |
| first_indexed | 2024-12-11T11:09:12Z |
| format | Article |
| id | doaj.art-8e072f13465c4ae5b53f9c30e13d1587 |
| institution | Directory Open Access Journal |
| issn | 1738-1061 2092-7258 |
| language | English |
| last_indexed | 2024-12-11T11:09:12Z |
| publishDate | 2012-03-01 |
| publisher | Korean Pediatric Society |
| record_format | Article |
| series | Korean Journal of Pediatrics |
| spelling | doaj.art-8e072f13465c4ae5b53f9c30e13d15872022-12-22T01:09:36ZengKorean Pediatric SocietyKorean Journal of Pediatrics1738-10612092-72582012-03-0155310711010.3345/kjp.2012.55.3.1072012550306A case of partial trisomy 3p syndrome with rare clinical manifestationsDong Hoon Han0Ji Young Chang1Woo In Lee2Chong Woo Bae3Department of Pediatrics, Kyung Hee University School of Medicine, Seoul, Korea.Department of Pediatrics, Kyung Hee University School of Medicine, Seoul, Korea.Department of Laboratory Medicine, Kyung Hee University School of Medicine, Seoul, Korea.Department of Pediatrics, Kyung Hee University School of Medicine, Seoul, Korea.Partial trisomy 3p results from either unbalanced translocation or de novo duplication. Common clinical features consist of dysmorphic facial features, congenital heart defects, psychomotor and mental retardation, abnormal muscle tone, and hypoplastic genitalia. In this paper, we report a case of partial trisomy 3p with rare clinical manifestations. A full-term, female newborn was transferred to our clinic. She had cleft lip-plate, dysgenesis of the corpus callosum, patent ductus arteriosus, pulmonary hypertension, and severe right-sided hydronephrosis, associated with ureteropelvic junction obstruction. Cytogenetic investigation revealed partial trisomy 3p; 46,XX,der(4)t(3;4) (p21.1;p16). The karyotype of her father showed a balanced translocation, t(3;4)(p21.1;p16). Therefore, the size of duplication can be an important factor.http://kjp.or.kr/upload/pdf/kjped-55-107.pdfPartial trisomy 3pCorpus callosum dysgenesisCleft lip-palateUnbalanced translocation |
| spellingShingle | Dong Hoon Han Ji Young Chang Woo In Lee Chong Woo Bae A case of partial trisomy 3p syndrome with rare clinical manifestations Korean Journal of Pediatrics Partial trisomy 3p Corpus callosum dysgenesis Cleft lip-palate Unbalanced translocation |
| title | A case of partial trisomy 3p syndrome with rare clinical manifestations |
| title_full | A case of partial trisomy 3p syndrome with rare clinical manifestations |
| title_fullStr | A case of partial trisomy 3p syndrome with rare clinical manifestations |
| title_full_unstemmed | A case of partial trisomy 3p syndrome with rare clinical manifestations |
| title_short | A case of partial trisomy 3p syndrome with rare clinical manifestations |
| title_sort | case of partial trisomy 3p syndrome with rare clinical manifestations |
| topic | Partial trisomy 3p Corpus callosum dysgenesis Cleft lip-palate Unbalanced translocation |
| url | http://kjp.or.kr/upload/pdf/kjped-55-107.pdf |
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