Ontology highlight
ABSTRACT:
SUBMITTER: Giordano M
PROVIDER: S-EPMC5135744 | biostudies-literature | 2016
REPOSITORIES: biostudies-literature
Molecular cytogenetics 20161203
<h4>Background</h4>Rearrangements involving the short arm of chromosome 18 have been extensively described. Here we report a microduplication of 320.5-431.5 Kb at 18p11.31-p11.23 in a 10 year-old boy.<h4>Case presentation</h4>In a 10 year-old boy with moderate psychomotor delay, hypoplasia of the cerebellar vermis, chorioretinal coloboma, deafness and growth hormone deficiency (GHD), an interstitial microduplication at 18p11.31-p11.23 was identified by array-CGH. This maternally inherited microd ...[more]