Terminal deletion of the short arm of chromosome 3.

Autor: Asai, Masami, Ito, Yasuhiko, Iguchi, Toshiyuki, Ito, Jin, Okada, Noboru, Oishi, Hidetsune
Zdroj: Japanese Journal of Human Genetics; Jun1992, Vol. 37 Issue 2, p163-168, 6p
Abstrakt: A boy with growth and mental retardation, flat occiput, high and broad forehead, blepharoptosis, narrow palpebral fissures, low set, malformed ears, short neck, anal atresia, deep sacral dimple is reported. High-resolution banding analysis showed terminal deletion of the short arm of chromosome 3 (46,XY,del(3)(p25.3)). Deletions of the short arm of chromosome 3 are relatively rare. The clinical features of the patient are compared with those of 19 previously reported cases. [ABSTRACT FROM AUTHOR]
Databáze: Complementary Index
Externí odkaz: