Partial Trisomy of Chromosome 18 (pter→q12) following a Familial 18;21 Translocation rcp(18;21)(q12;q11)

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Abstract
A 1-year-old boy with trisomy 18(pter .fwdarw. q12) following a paternal balanced translocation revealed microcephaly, a pattern of minor dysmorphic features including upslanting narrow palpebral fissures, receding forehead, large nose and receding mandible, cryptorchidism, flexion contractures of fingers, a cardiac malformation and moderate mental retardation. While pure trisomy 18p generally goes along with a near-normal phenotype, additional trisomy of only a short segment of the proximal long arm 18 has a distinct negative influence on the phenotype, as seen in our proband.

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