Familial Chromosome No.9 Pericentric Inversion Producing Scimitar Syndrome

• 발행기관: 대한의학유전학회
• 저자명: Jong Wan Kim Young Yoo Kim Jong Chul Shin Won Bae Lee
• 간행물 정보: 『대한의학유전학회지』제3권 제1호, 1~4쪽, 전체 4쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 1999.12.30

영문 초록

Scimitar syndrome is a rare congenital anomaly that is characterized by hypoplasia of the right lung and the right pulmonary artery with anomalous pulmonary venous drainage to the inferior vena cava. The scimitar vein is usually visible on chest radiographs, but may be obscured by the heart. It is essential for surgical correction to establish the point of drainage of the anomalous vein and associated anomalies. There are recent reports of familial total anomalous pulmonary venous return suggesting heritable forms of this anomaly. Although genetic factors are believed to have important roles in congenital heart disease, few genes involved in heart development have been located. We report a case of familial chromosome 9 inversion with Scimitar syndrome in an offspring who presented with dextrocardia. Evaluation with magnetic resonance cineangiograph imaging demonstrated an anomalous pulmonary vein draining into the inferior vena cava above the diaphragm and hypoplasia of the right lung and the right pulmonary artery. Chromosome analysis showed pericentric inversion of chromosome 9, Inv 9 (p13, q21), in the patient and his mother as well. A brief review of the related literature is also included.

목차

INTRODUCTION

CASE REPORT

DISCUSSION

REFERENCES

키워드

Scimitar syndrome chromosome No. 9 pericentric inversion