Partial trisomy 18q in a newborn with typical 18 trisomy phenotype
- 1 January 1978
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 44 (2) , 201-205
- https://doi.org/10.1007/bf00295415
Abstract
This paper describes a case of partial trisomy of almost the entire long arm of chromosome 18 in a newborn with classic trisomy-18 phenotype, resulting from a de novo unbalanced 18q/21p translocation: karyotype: 46,XX,-21,t(18;21)(18qter→18q11::21p12→21qter). A review of the other reported cases of partial trisomy 18 suggests that a critical segment in chromosome 18, corresponding to bands q11-q12, might be responsible for most of the signs of trisomy 18, including failure to thrive and early death.This publication has 10 references indexed in Scilit:
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