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Journal of Medical Genetics logoLink to Journal of Medical Genetics
. 1998 Feb;35(2):159–161. doi: 10.1136/jmg.35.2.159

MRI findings in a patient with partial monosomy 10p.

F Sunada 1, F C Rash 1, D A Tam 1
PMCID: PMC1051224  PMID: 9507399

Abstract

Partial monosomy 10p is a rare chromosomal disorder characterised by frontal bossing, micrognathia, congenital heart defects, vesicoureteral abnormalities, and developmental delay. This is the first report to describe seizures not associated with hypocalcaemia, as well as cortical atrophy and decreased white matter volume on magnetic resonance imaging, in a patient with documented partial monosomy 10p. The neuroradiographic abnormalities found in this patient provide a first step towards understanding the aetiology of the developmental delay and ventriculomegaly associated with this chromosomal abnormality.

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Selected References

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