A Case of Duplication 9p Syndrome: Partial Trisomy 9p.
- Author:
Me Gyoung LEE
1
;
Young Nae ROH
;
Young Hoon KIM
;
Chung Sun BAEK
;
Me Gyoung SIN
;
Jin LEE
;
Pil Sang JANG
;
Jin Tack KIM
;
Kweon Haeng LEE
;
Kyung Tai WHANG
Author Information
1. Department of Pediatrics, College of Medicine, The Catholic University of Korea. pedkyh@catholic.ac.kr
- Publication Type:Case Report
- Keywords:
De novo duplication;
Chromosome 9p;
Growth and developmental retardation
- MeSH:
Arm;
Ear;
Fingers;
Growth and Development;
Humans;
Karyotype;
Male;
Mouth;
Muscle Hypotonia;
Nose;
Pediatrics;
Toes;
Trisomy*
- From:Journal of the Korean Pediatric Society
2002;45(9):1155-1159
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Trisomy 9p syndrome was first described by Rethore, et al in 1970 and about 150 cases have been reported. Trisomy 9p has been reported as either partial or complete. The term "duplication 9p syndrome" instead of "trisomy 9p syndrome" is used since most of the reported patients had only partial duplication rather than the whole arm duplication of 9p. Duplication of 9p syndrome is characterized by growth and developmental retardation, microbrachycephaly, deep and wide set eyes with down-slanting palpebral fissures, "globular" nose, down-turned corners of the mouth, prominent apparently low-set ears, and short fingers and toes with small nails. A 10- month-old male was referred to our department of pediatrics because of hypotonia and delayed development. Karyotype revealed 46, XY, dup(9)(p12p24) by GTC-Banding. We report a case of a duplication 9p syndrome diagnosed by GTC-banding.
