Multiple congenital anomalies/mental retardation (MCA/MR) syndrome due to interstitial deletion 1q
- 31 August 1984
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 19 (1) , 131-136
- https://doi.org/10.1002/ajmg.1320190114
Abstract
A severely retarded male infant was found to have a previously undescribed multiple congenital anomalies/mental retardation (MCA/MR) syndrome including microdolichocephaly, prominence of metopic suture, coarse scalp hair, epicanthus, anteverted nostrils, micrognathia, posteriorly angulated malformed auricles, preaxial hexadactyly, clinodactyly, camptodactyly, hypospadias, cryptorchidism, inguinal hernias, agenesis of left kidney, and pyloric stenosis. This syndrome was due to an interstital del(1)(q25.2q31.2) associated with a paracentric inv(1)(q31.2q44).Keywords
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