A de novo 1.4-Mb deletion at 21q22.11 in a boy with developmental delay
- PMID: 24458657
- DOI: 10.1002/ajmg.a.36377
A de novo 1.4-Mb deletion at 21q22.11 in a boy with developmental delay
Abstract
Monosomy 21 is a very rare chromosomal abnormality. At least 45 patients with partial deletion involving 21q11 have been reported. Here, we report a Japanese boy who presented with pre- and postnatal growth delays, psychomotor developmental delay, microcephaly, and iris coloboma. Cytogenetic analysis revealed a de novo 1.4-Mb deletion at 21q22.11 containing 19 protein-coding RefSeq genes. We compared the clinical phenotypes between the present patient and 16 previously reported patients with a deleted region associated with postnatal growth delay and psychomotor developmental delay. Interestingly, ITSN1 was the only gene deleted or disrupted in all cases; this gene is known to be associated with intellectual disability. Microcephaly and brain structural abnormalities including polymicrogyria and agenesis/hypoplasia of the corpus callosum may also result from haploinsufficiency of ITSN1, highlighting its clinical significance for the neurological features of patients with monosomy 21.
Keywords: 21q22.11 deletion; ITSN1; copy number analysis; developmental delay; fluorescence in situ hybridization (FISH).
© 2014 Wiley Periodicals, Inc.
Publication types
MeSH terms
Substances
Supplementary concepts
LinkOut - more resources
Full Text Sources
Other Literature Sources
Medical
Miscellaneous