Article
A newly recognized 13q12.3 microdeletion syndrome characterized by intellectual disability, microcephaly, and eczema/atopic dermatitis encompassing the HMGB1 and KATNAL1 genes.
American journal of medical genetics. Part A - 1 May 2014
Bartholdi Deborah, Stray-Pedersen Asbjørg, Azzarello-Burri Silvia, Kibaek Maria, Kirchhoff Maria, Oneda Beatrice, Rødningen Olaug, Schmitt-Mechelke Thomas, Rauch Anita, Kjaergaard Susanne
Abstract excerpt
Proximal deletions of the long arm of chromosome 13 have been reported only rarely. Here we present three unrelated patients with heterozygous, apparently de novo deletions encompassing 13q12.3. The patients present with moderate demonstrated or apparent intellectual disability, postnatal microcephaly, and eczema/atopic dermatitis as the predominant symptoms. In addition, they had pronounced feeding difficulties...
Topics
- Abnormalities, Multiple
- Adenosine Triphosphatases
- Adolescent
- Child
- Child, Preschool
- Chromosome Deletion
- Chromosomes, Human, Pair 13
- Comparative Genomic Hybridization
- Dermatitis, Atopic
- Eczema
- Facies
- Female