Trisomy 16p in a liveborn infant and review of trisomy 16p
- 1 February 1992
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 42 (3) , 316-319
- https://doi.org/10.1002/ajmg.1320420311
Abstract
We report on an infant boy with duplication of part of 16p and partial deficiency of 9p:46.XY, −9, + der(9)t(9;16)(p24;p13.1)mat. The child has the typical phenotype of dup(16p) even though the extra piece of 16p is small (16pl3.1→pter). Manifestations include severe developmental delay, rounded face, sparse hair, ear anomalies, hypertelorism, cleft soft palate, a thin vermilion border of the upper lip, and left renal dysgenesis. We review 16p duplications.Keywords
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