Langer-Giedion syndrome, in a child with complex structural aberration of chromosome 8
- 1 April 1983
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 63 (2) , 178-182
- https://doi.org/10.1007/bf00291541
Abstract
A patient with typical features of the Langer-Giedion syndrome (tricho-rhino-phalangeal syndrome, type II) is described. In the karyotype an interstitial deletion of the long arm of chromosome 8 (band 8q22) was observed as the result of a complex rearrangement of chromosomes 1 and 8: 46,XY inv(8)(q23→q242), del(8)(q221→q223), ins(8;1) (q221;p321 p341;q242). Previously reported cases of Langer-Giedion syndrome with deletion of 8q are compared with the present one.This publication has 17 references indexed in Scilit:
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