J Korean Pediatr Soc.
2000 May;43(5):700-703.
A Case of Partial Trisomy 9 by Balanced Maternal Translocation
- Affiliations
-
- 1Department of Pediatrics, Korea University, Seoul, Korea.
- 2Department of Anatomical Pathology, Korea University, Seoul, Korea.
- 3Institute of Human Genetics, Korea University, Seoul, Korea.
- 4Department of Orthopedics, Korea University, Seoul, Korea.
Abstract
- Trisomy 9p syndrome was first described by Rethore et al in 1970 and about 100 cases have been reported since. The phenotypic spectrum of this syndrome is characterized by craniofacial malformation, facial deformity, skeletal and dermatoglyphic anomalies with variable degrees of mental retardation. We experienced a case of partial trisomy 9 syndrome in a 15-month-old female who had multiple congenital anomalies of frontal bossing, oblique antimongoloid palpebral fissures, enophthalmos, hypertelorism, globular prominent nose, down-turned mouth, prominent low-set ears, simian creases of both hands, clinodactyly and single crease of 5th finger, congenital dislocation of both knees and mental retardation. In cytogenetic studies using G banding technique and fluorescent in situ hybridization(FISH), she presented with an extra derivative chromosome No. 9. The karyotype of the patient was confirmed as 47,XX,+der (9),t (6:9) (q27;q21.2) mat. We report the case with the review of the associated literatures.
- 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 Trisomy 9 due to Maternal Balanced Translocation t(9;21)(q21.2;q11.2)
- Trisomy 12p Syndrome Secondary to a Balanced Maternal Translocation [46,XX, t(12;22)(p11.2;p13)]
- A Case of Partial Monosomy 10q with Partial Trisomy 22q due to Maternal Balanced Translocation
