Partial monosomy of the long arm of chromosome 16: A distinct clinical entity?
- 1 January 1979
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 46 (1) , 115-120
- https://doi.org/10.1007/bf00278910
Abstract
A 7-month-old male child with a de novo, seemingly belanced reciprocal 5p/16q translocation and karyotype 46,XY,t(5;16) (p14;q21), resulting from a maternal meiotic error, is described. The clinical findings in this patient are strikingly similar to those in the only patient with partial deletion 16q hitherto described, [del(16)(q21)], indicating that during the 5p/16q rearrangement, 16q material was lost and suggesting that partial or total deletion of the long arm of chromosome 16 distal to band q21 is accompanied by a distinct clinical phenotype.This publication has 8 references indexed in Scilit:
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