Article: article from journal or magazin.
Case report (case report): feedback on an observation with a short commentary.
De novo deletion of chromosome 11q13.4-q14.3 in a boy with microcephaly, ptosis and developmental delay.
European Journal of Medical Genetics
Publication types: Case Reports ; Journal Article ; Research Support, Non-U.S. Gov'tPublication Status: ppublish
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.
Blepharoptosis/genetics, Child, Preschool, Chromosome Banding, Chromosome Deletion, Chromosomes, Human, Pair 11, Developmental Disabilities/genetics, Humans, Male, Microcephaly/genetics, Physical Chromosome Mapping
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