Abstract
Full and partial trisomies have been well delineated. A male infant who died within 72 hours following an apneic episode showed clinical features of trisomy 8: abnormal facies, cloanal atresis, congenital heart disease, hypospadias, broad thumbs and toes, and tracheoesophageal fistula. Cytogenetic studies performed on the child and parents revealed the mother to be a reciprocal translocation carrier, [46,XX,t(8;13)(q11;q34)]. The child's karyotype was 46,XY,-13, +der(13),t(8;13)(q11;q34)mat. The father and a 4 year old female sibling were chromosomally normal. The maternal grandparents were not available for karyotype analysis. The family history is noteworthy. The mother is said to have had a sibling who died within the first year of life with central nervous system malformations. Several generations (maternal side) in whom central nervous system defects and other malformations occurred associated with death within the first two years of life. These data suggest instances in which a syndrome similar to that of the propositus may have occurred.
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