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Case Reports
. 2014 Apr;164A(4):1021-8.
doi: 10.1002/ajmg.a.36377. Epub 2014 Jan 23.

A de novo 1.4-Mb deletion at 21q22.11 in a boy with developmental delay

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Case Reports

A de novo 1.4-Mb deletion at 21q22.11 in a boy with developmental delay

Ryoko Fukai et al. Am J Med Genet A. 2014 Apr.

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).

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