924 CYTOGENETIC AND CLINICAL DEFINITION OF TRISOMY 8: BASED ON OBSERVATIONS IN PARTIAL TRISOMY 8(ql3→qter)

Abstract

Trisomy 8 syndrome is a well documented clinical entity, consisting of mental retardation, micrognathia, cardiac and renal anomalies, skeletal defects and deep plantar creases. The few reported cases of partial trisomy 8p and 8q(distal part) did not exhibit the latter pathognomonic sign. We studied a neonate with major features of trisomy 8 syndrome, caused by partial trisomy 8(q13→qter), born after 28 weeks to a 26-year-old primipara with polyhydramnios. The autopsy revealed: hydrocephaly; large head with prominent glaella and flat occiput; prominent nose; webbing of the neck; low-set ears; microstoma; choanal atresia; micrognathia; wide-spaced nipples; shield-like chest; proximally placed thumbs; abnormal palmar creases; prominent foot pads; flexion contractures of toes and bilateral deep longitudinal plantar furrows. She also had cardio-pulmonary, intestinal and genito-urinary anomalies. Karyotyping of cultured lymphocytes with Q and G-banding revealed trisomy of the distal part of the long arm of No.8 in all 50 cells: 46,XX,t(6;8) (6pter→6q25::8q13→8qter). The mother showed a balanced reciprocal translocation 46,XX,t(6;8)(q25;q13). Comparison of this case with previous reports of trisomy 8 indicates that plantar furrows are of diagnostic significance in the newborn, and that the extra chromosomal material of 8q13→8qter is responsible for the major features of trisomy 8 syndrome.

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