Partial trisomy-5p

1 January 1978

journal article
research article
Published by Springer Nature in Human Genetics

Vol. 43 (2) , 231-237
https://doi.org/10.1007/bf00293601

Abstract

Two sibs with partial trisomy-5p are reported. Their father is the carrier of a balanced translocation 46,XY,t(4q+;5p-). Twelve cases of partial trisomy-5p—including our two patients—have been reported. The most common abnormalities found were mental retardation, short stature, dolichocephaly, prominent nasal bridge, prognathism, seizures, hypotonia, ear abnormalities, increased ulnar loops on the fingertips, and cryptorchidism in affected males.

Keywords

INTERNAL MEDICINE
METABOLIC DISEASE
MENTAL RETARDATION
SHORT STATURE
CRYPTORCHIDISM

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