A Case of an Addition of Chromosome 9 Short Arm Associated with Multiple Congenital Anomalies

Abstract

Human chromosome 9 is characterized by a high degree of morphologic heteromorphisms, including variation in the size of the heterochromatin. We present a case of a de novo short arm addition of chromosome 9,［46, XY, add(9)(p13)], associated with multiple anomalies, including trigonocephaly, upward slant of the palpebral fissures, patent ductus arteriosus, pulmonary hypertension, hypertrophic cardiomyopathy, umbilical hernia, ambiguous genitalia, and sensorineural hearing and visual loss. This mutation affects the pericentric region of the heterochromatin. This patient exhibited a clinically important breakpoint of the heterochromatic region of chromosome 9 short arm and the associated anomalies.

안면 기형, 삼각두, 뇌량 무형성, 감각 신경성 난청, 시각장애, 심기형, 심근병증, 폐동맥 고혈압, 배꼽 탈장과 생식기 기형이 있는 환아에게 동반된 9번 염색체 단완 이질염색질 부위의 첨가를 발견하여 9번 염색체 p13 부위의 첨가와 연관된 다발성 기형의 발생을 보고하는 바이다.