A Case of VATER association Variant with a 46, XY, inv (6)(q11q16) Inversion.
- Author:
Dong Ho PARK
1
;
Dae Bong JUNG
;
Eun Seok YANG
;
Yeong Bong PARK
;
Sang Kee PARK
Author Information
1. Department of Pediatrics, Chosun University Medical College, Kwangju, Korea.
- Publication Type:Case Report
- Keywords:
VATER association;
Inversion of chromosome 6
- MeSH:
Anus, Imperforate;
Chromosome Aberrations;
Chromosomes, Human, Pair 6;
Ectromelia;
Fistula;
Humans;
Infant, Newborn;
Lower Extremity;
Ribs;
Trisomy;
Urinary Tract
- From:Journal of the Korean Pediatric Society
1998;41(3):396-400
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
VATER association of vertebral defects, imperforate anus, tracheoesophageal (T-E) fistula with esiphageal atresia, and radial and renal dysplasia are utilized to identify this complex. Other anomalies are vascular anomalies (cardiac defects and single umbilical artery), and prenatal and postnatal growth deficiency, defects of external genital and urinary tract as well as bone defects (preaxial lower extremity anomalies, supernumerary digits, rib anomaly). This pattern of malformation generally occurs sporadically in an otherwise normal family, and may occur as a part of a broader pattern, such as the trisomy 18, del (4p, 6q, and 13q) syndromes, and sirenomelia. As inversion of chromosome does not lose of genetic materials, phenotypic abnormalities does not occur. But rare cases have been reported. We report a neonate who had multiple congenital anomalies, including the VATER association defects associated with an unusual chromosomal abnormality, a paracentric inversion of chromosome 6 : 46, XY, .inv (6)(q11q16).
