| A Case of VATER association Variant with a 46,XY,inv(6)(q11q16) Inversion |
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Dong-Ho Park, Dae-Bong Jung, Kyoung Rae Moon, Yeong-Bong Park, Sang-Kee Park |
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Department of Pediatrics, Chosun University M edical College, Kwangju, Korea |
| VATER association variant를 동반한 6번 염색체 전도(inversion) 1예 |
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박동호, 정대봉, 문경래, 박영봉, 박상기 |
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조선대학교 의과대학 소아과학교실 |
Correspondence:
Dong-Ho Park, Email: 1
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| Abstract |
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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). |
| Key Words:
VATER association, Inversion of chromosome 6 |
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