J Korean Pediatr Soc.
2000 Oct;43(10):1404-1408.
A Case of Pericentric Inversion of Chromosome 5(p15.1q11.2 )
- Affiliations
-
- 1Department of Pediatrics, College of Medicine Dongguk University Pohang Hospital, Pohang Korea.
Abstract
- Pericentric inversion of chromosome 5 is a rare chromosomal aberration, which has familial inheritance in a few cases. Many reports demonstrated that the phenotype is similar to the criduchat syndrome. There are many problems regarding the clinical significance for genetic counseling and parental diagnosis. The authors encountered a male neonate who presented clinodactyly, campylodactyly, closed fists with 4th and 5th fingers overlapping the index and 3rd fingers, simian crease, the dorsiflexed 2nd toes, and poor sucking power, but without other characteristics of Edwards syndrome or cri-du-chat syndrome. Chrornosome studies from peripheral blood showed a 46, XY,inv(5)(p15.1q11.2) karyotype. We report the first case of pericentric inversion of chromosome 5 in Korea with a review of literature.
Keyword
- Full Text Links
-
- Actions
-
Cited
- CITED
-
- Close
- Share
-
- Similar articles
-
- Incidence and Karyotypes According to Each Chromosome in 13 Cases with Inversion
- A Case of Bilateral Split Hand and Foot Malformation with Inversion of Chromosome 7
- Prenatal detection of de novo inversion of chromosome 9 with duplicated heterochromatic region and postnatal follow-up
- A Case of Trisomy 10p with Vertebral Anomaly and Hypospadias
- Beckwith-Wiedemann Syndrome and Jacobsen Syndrome Caused by 11pter Duplication and 11qter Deletion Inherited from Paternal Pericentric Inversion
