Deletion 12q: a second patient with 12q24.31q24.32 deletion.
We 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.
Plotner
Pamela L
PL
Division of Medical Genetics, Department of Pediatrics, University of Texas Medical School at Houston, 77030, USA.
Smith
Janice L
JL
Northrup
Hope
H
D000015:Abnormalities, Multiple; D002869:Chromosome Aberrations; D025063:Chromosome Disorders / Q000473:pathology*; D002881:Chromosomes, Human, Pair 12 / Q000235:genetics*; D017353:Gene Deletion; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008297:Male; D014481:United States