Korean J Perinatol.
2010 Sep;21(3):302-305.
A Case of Partial Trisomy 9 due to Maternal Balanced Translocation t(9;21)(q21.2;q11.2)
- Affiliations
-
- 1Department of Pediatrics, Soonchunhyang University Hospital, Seoul, Korea. neolee@schmc.ac.kr
Abstract
- Trisomy 9 syndrome was first reported by Retheore in 1970 and has been rarely reported. This syndrome consists of partial and complete trisomy 9. It is characterized by growth and mental retardation, craniofacial abnormalities including microcephaly, hypertelorism, prominent nose, deep-set ears and down-slanting palpebral fissures. Congenital heart diseases and congenital dislocations of knee are also common in trisomy 9 syndrome. Here, we report a very rare case of partial trisomy 9 due to maternal balanced translocation t(9;21). He showed craniofacial abnormalities, brain malformation, cardiac defect, hydronephrosis and congenital dislocations of hip and knee joints.
- Full Text Links
-
- Actions
-
Cited
- CITED
-
- Close
- Share
-
- Similar articles
-
- Recurrent Partial Trisomy 1q in Maternal Balanced Translocation t(1;11)(q32;q23)
- A Case with Partial Monosomy 6q and Partial Trisomy 14q Derived from Maternal Balanced Translocation
- A Case of Partial Monosomy 10q with Partial Trisomy 22q due to Maternal Balanced Translocation
- Trisomy 12p Syndrome Secondary to a Balanced Maternal Translocation [46,XX, t(12;22)(p11.2;p13)]
- A Case of Partial Trisomy 9pter --> q13 due to Paternal Balanced Translocation t (9;21) (q13;q21)
