47,XX,+der(18),t(9;18)(p24;q21) mat: a distinct partial trisomy 18q--syndrome?
- 1 October 1978
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 15 (5) , 391-395
- https://doi.org/10.1136/jmg.15.5.391
Abstract
A moderately retarded girl had a 47,XX,+der(18),t(9;18)(p24;q21)mat abnormality that was inherited from her mother, who had a 46,XX,t(9;18)(p24;q21) karyotype in most cells, and a minor cell line of 47,XX,+der(18),t(9;18)(p24;q21). Her dysmorphic features.sbd.bilateral epicanthic folds, low-set, abnormal ears, low posterior hairline, clinodactyly of the 5th fingers, and broad great toes.sbd.were similar to those of other patients with an additional number 18 chromosome in which all or most of the long arm was missing, raising the possibility of a distinct syndrome.This publication has 6 references indexed in Scilit:
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