A Case of 2q-Syndrome 46, XX, del (2) (q33q35).
- Author:
Dong Hyeon CHOI
1
;
Eun Yeong SEOL
;
Moon Ki CHO
;
Chel SHON
Author Information
1. Department of Pediatrics, Mokpo Catholic Hospital, Mok-Po, Korea.
- Publication Type:Case Report
- Keywords:
Partial monosomy 2;
Chromosome abnormality;
Craniofacial changes
- MeSH:
Arm;
Chromosome Aberrations;
Chromosome Deletion;
Chromosomes, Human, Pair 2;
Cleft Palate;
Ear;
Female;
Foot;
Hand;
Hernia, Inguinal;
Humans;
Hypertelorism;
Karyotype;
Microcephaly;
Mouth
- From:Journal of the Korean Society of Neonatology
2000;7(1):64-67
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
A long arm deletion of chromosome 2 is very rarely reported. Particular deletion uniformly resulted in developmental delays, craniofacial changes, and occasionally resulted in microcephaly, low set ears, and hand and foot abnormalities. We experienced a case of partial monosomy 2 in a 5-months-old girl, who showed low set ears, hypertelorism, low nasal bridges, small mouth, cleft palate, inguinal hernia. Chromosome analysis on a G banding with high resolution showed a deletion of the long arm of chromosome 2. Her karyotype was designated as 46, XX, del (2) (q33q35). A brief review of the literature is also presented.
