Short arm deletion of chromosome 1: del(1)(p13.3 p22.3) in a female infant with an extreme tetralogy of Fallot

• Published in: Clinical genetics Vol. 39; no. 2; p. 132
• Main Authors: Tabata, H, Sone, K, Kobayashi, T, Yanagisawa, T, Tamura, T, Shimizu, N, Kanbe, Y, Tashiro, M, Ono, S, Kuroume, T
• Format: Journal Article
• Language: English
• Published: Denmark 01.02.1991
• Subjects: Cardiac Catheterization; Chromosome Aberrations - diagnosis; Chromosome Aberrations - genetics; Chromosome Aberrations - pathology; Chromosome Deletion; Chromosome Disorders; Chromosomes, Human, Pair 1; Female; Humans; Infant, Newborn; Karyotyping; Tetralogy of Fallot - complications; Tetralogy of Fallot - diagnosis
• ISSN: 0009-9163
• DOI: 10.1111/j.1399-0004.1991.tb02999.x

High-resolution chromosome analysis showed the karyotype 46,XX,del(1)(p13.3 p22.3) in a female infant with an extreme tetralogy of Fallot and multiple congenital anomalies. The patient showed characteristic features: upper and lower eyelids connected to each other by a string-like epithelium, low hairline, epicanthal folds, saddle nose with a broad, flat root, micrognathia, short neck, high-arched palate, prominent xiphisternum, wide-spaced nipples, bilateral pes equinovarus, fifth toes that overlapped the fourth toes bilaterally, a deep fissure between the first and second toes bilaterally, and abnormal flexions of fingers and toes. Growth and psychomotor retardation were also noted. Cardiac catheterization revealed an extreme tetralogy of Fallot complicated by a patent ductus arteriosus. Ventricular tachycardia and ventricular premature beats developed during the neonatal period and did not respond well to anti-arrhythmic drugs. She died of the anoxia caused by closure of the patent ductus arteriosus when she was 7 months old.