Interstitial deletion of chromosome 18[del(18)(q11.2q12.2 or q12.2q21.1].
A 27-month old boy with mild developmental delay, growth delay, strabismus, midface hypoplasia, relative telecanthus, downslanting palpebral fissures, epicanthal folds, dental hypoplasia, and cardiac defects was found to have an interstitial deletion of chromosome 18 involving band q12.1 or q12.3
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Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas 77030.
Ledbetter
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Greenberg
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D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002872:Chromosome Deletion; D002887:Chromosomes, Human, Pair 18; D002658:Developmental Disabilities / Q000235:genetics*; D006801:Humans; D008297:Male; D010641:Phenotype