De novo deletion of chromosome 11q13.4-q14.3 in a boy with microcephaly, ptosis and developmental delay.
Many distal deletions of chromosome 11q have been described, but reports on deletions of 11q13-q14 are rare in the literature. Here we describe the genotype and phenotype of a boy with a deletion of this region. We fine mapped the aberration with array-CGH, revealing an 18.2 Mb deletion. The main clinical features included microcephaly, ptosis and moderate developmental delay. The symptoms partially overlap with previously reported patients with a deletion in the same region.
Department of Molecular Medicine and Surgery and Center for Molecular Medicine, CMM L8:02, Karolinska Institutet, Karolinska University Hospital, 171 76 Stockholm, Sweden. Josephine.Wincent@ki.se
Josephine
J
Wincent
Jacqueline
J
Schoumans
Britt Marie
BM
Anderlid
D001763:Blepharoptosis / Q000235:genetics*; D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11; D002658:Developmental Disabilities / Q000235:genetics*; D006801:Humans; D008297:Male; D008831:Microcephaly / Q000235:genetics*; D020161:Physical Chromosome Mapping