
doi: 10.1002/ajmg.a.10232
pmid: 12687666
AbstractWe report on a 20‐month‐old patient with facial dysmorphisms, microcephaly, cardiac septal defects, global developmental delay, and failure to thrive. Karyotypic evaluation revealed an interstitial deletion of the long arm of one chromosome 12, del(12)(q24.31q24.32). Only one other patient with a similar deletion has been reported previously. By comparing the two patients, we can begin to identify a characteristic phenotypic pattern. © 2003 Wiley‐Liss, Inc.
Chromosome Aberrations, Male, Chromosomes, Human, Pair 12, Infant, Chromosome Disorders, United States, Humans, Abnormalities, Multiple, Gene Deletion, In Situ Hybridization, Fluorescence
Chromosome Aberrations, Male, Chromosomes, Human, Pair 12, Infant, Chromosome Disorders, United States, Humans, Abnormalities, Multiple, Gene Deletion, In Situ Hybridization, Fluorescence
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