Patient with novel interstitial deletion of chromosome 3q13.1q13.3 and agenesis of the corpus callosum.
Interstitial deletions of the proximal long arm of chromosome 3 are rare. Only eight previously reported patients have deletions involving the proximal segment of 3q. Of these patients, three had agenesis of the corpus callosum and one had holoprosencephaly. We report here a patient with a small unique interstitial deletion of the long arm of chromosome 3 spanning 3q13.1q13.3. This patient has agenesis of the corpus callosum, global developmental delay, and distinctive facial features of a small nose, anteverted nares, and broad nasal root. Our patient provides further evidence that a gene involved in corpus callosum development or neuronal migration may reside in this region.
Lawson-Yuen
Amy
A
Departments of Genetics Neurology, Children's Hospital Boston, Boston, Massachusetts Genzyme Genetics, Santa Fe, New Mexico, USA.
Berend
Sue Ann
SA
Soul
Janet S
JS
Irons
Mira
M
D061085:Agenesis of Corpus Callosum; D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics; D004200:Diseases in Twins / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009666:Nose / Q000002:abnormalities; D010641:Phenotype; D014429:Twins, Dizygotic