A Case of Dup (3q) Syndrome.
- Author:
Yo Seop PAHN
1
;
Mi Yeon CHOI
;
Young Ah LEE
;
Woo Kap CHUNG
;
Keun Young LEE
;
Sook Kyoung OH
Author Information
1. Department of Pediatrics, College of Medicine, Hallym University, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
Dup (3q) syndrome;
Multiple congenital anomalies
- MeSH:
Counseling;
Cytogenetics;
Foot;
Humans;
Hypertelorism;
Hypertrichosis;
Infant, Newborn;
Lip;
Mouth;
Neck;
Palate;
Spina Bifida Occulta
- From:Journal of the Korean Pediatric Society
1997;40(3):408-412
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
We have experienced a case of dup (3q) syndrome in the neonate who had a multiple congenital anomalies of hypertrichosis, hypertelorism, upslanting palpaberal fissures, anteverted nostrils, long philtrum, micrognathia, downturned corners of the mouth, highly arched palate, short, webbed neck, clinodactyly, rocker-bottom feet, dermal sinus. Cytogenetic studies showed a duplication 3q21-->qter regions. Chromosome study of relatives is extremely important for counseling because only 25% of cases represented de novo duplications. We reported the case with the review of the associated literatures.