TRISOMY 18 IN AN 11 YEAR OLD GIRL

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Abstract
A case of trisomy 18, confirmed by G [Giemsa] banded chromosome analysis, is reported in an 11 yr old Australian girl. There is no cytogenetic evidence of mosaicism in the propositus or her parents. The patient''s salient clinical features are severe mental and motor retardation with microcephaly, kyphoscoliosis, various congenital anomalies and very mild congenital heart disease. Institutionalization and constant medical care was required. Comparison of this patient with other long-term survivors with trisomy 18 reported in the literature, and also considered to be non-mosaic, reveals many similar features. No pattern emerges as to why these rare patients have survived.

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