Chromosome 7q Deletion Syndrome 46, XX, del(7)(q34) with Hydronephrosis.
- Author:
Nam Ju SUNG
1
;
Me Jin KIM
;
Young Ho KIM
;
Ji A JUNG
;
Seung YANG
;
Il Tae HWANG
;
Hae Ran LEE
Author Information
1. Department of Pediatrics, College of Medicine, Hallym University, Seoul, Korea. ithwang83@hallym.or.kr
- Publication Type:Case Report
- Keywords:
Chromosome 7q deletion syndrome;
Hydronephrosis
- MeSH:
Ear;
Heart Defects, Congenital;
Humans;
Hydronephrosis*;
Infant, Low Birth Weight;
Infant, Newborn;
Intellectual Disability;
Microcephaly;
Muscle Hypotonia
- From:Journal of the Korean Society of Neonatology
2005;12(2):217-221
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Chromosome 7q deletion, relatively rare syndrome, was first described by de Grouchy in 1969. The most frequent clinical manifestations of a "7q deletion syndrome" include; low birth weight, postnatal growth retardation, mental retardation, developmental delay, microcephaly, congenital heart disease, hypotonia, bulbous nasal tip and abnormal ears. We report a case of 7q deletion syndrome with microcephaly, upslanting palpabral fissure, micrognathia, bulbous nasal tip, developmental delay and hydronephrosis.
