MRI findings in a patient with partial monosomy 10p.
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.
Sunada
F
F
Department of Pediatrics and Clinical Investigation, Naval Medical Center, San Diego, California 92134-5000, USA.
Rash
F C
FC
Tam
D A
DA
D001284:Atrophy; D001921:Brain / Q000473:pathology*; D002869:Chromosome Aberrations / Q000503:physiopathology*; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002879:Chromosomes, Human, Pair 10 / Q000502:physiology*; D002658:Developmental Disabilities / Q000235:genetics; D005260:Female; D005625:Frontal Lobe / Q000473:pathology; D006801:Humans; D006996:Hypocalcemia / Q000503:physiopathology; D007231:Infant, Newborn; D007234:Infant, Premature; D007621:Karyotyping; D008279:Magnetic Resonance Imaging; D011247:Pregnancy; D011248:Pregnancy Complications; D012640:Seizures / Q000235:genetics / Q000503:physiopathology* / Q000628:therapy; D014056:Tomography, X-Ray; D014552:Urinary Tract Infections / Q000503:physiopathology / Q000628:therapy