Trisomy 9: An additional case with unique manifestations

Abstract

We report on an infant with multiple congenital anomalies and mosaic trisomy 8 [corrected]. Clinical findings are presented, and compared with those of the 24 cases previously reported. Some unusual characteristics found in this patient include macrocephaly, an extreme degree of palatal hypoplasia, and abnormally shaped long bones.

Trisomia 8 (sindrome de warkany 2) reporte de dos casos

“…El cariotipo con fórmula 46,XY/47,XY,+8 del niño concluye una constitución en mosaico. 10 Las características fenotípicas y principales anomalías del desarrollo de los dos casos de neonatos nacidos en el Instituto Nacional Materno Perinatal en el transcurso de los últimos 7 años se resumen en la Tabla 1. Puede notarse que ambos casos al ser trisomías puras, comparten muchas características en común.…”

Prenatal diagnosis and fetopathological findings in five fetuses with trisomy 9

“…Newborn infants with trisomy 9 probably represent the less severe cases and they may be mosaic. Clinical manifestations include low birth weight, developmental delay, microcephaly, small palpebral fissures, bulbous nose, apparently low-set malformed ears, hypoplastic genitalia, and several cardiac, skeletal, and cerebral malformations [Feingold and Atkins, 1973;Kurnick et al, 1974;Sutherland et al, 1976;Qazi et al, 1977;Mace et al, 1978;de Grouchy and Thurleau, 1984;Schinzel, 1984;Smart et al, 1988;Diaz-Mares et al, 1990;Benacerraf et al, 1992;de Michelena et al, 1992;Louwen et al, 1992;Shere et al, 19921. With advances in fetal ultrasound technology and more thorough pathological investigations of products of conception, information on fetuses with rare chromosome abnormalities may be collected. Five cases are reported complete with autopsy findings, all with putative complete trisomy 9.…”