Recognizable behavioral and somatic phenotype in patients with proximal interstitial 18q deletion: Report on a new affected child and follow‐up on the original reported familial cases
- 7 June 1992
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 43 (3) , 535-538
- https://doi.org/10.1002/ajmg.1320430307
Abstract
We describe a moderately retarded boy with a chromosome 18 deletion involving the regions q11.2q12.2. His phenotype is similar to that of other reported cases of proximal interstitial deletions involving 18q. We also provide follow‐up information on the first 4 cases of proximal interstitial deletion of 18q from a family with a complex chromosome rearrangement originally reported in 1974.Keywords
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