Partial deletion of the long arm of chromosome 11 [del(11)(q23.3----qter)] with abnormal white matter
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Updated: Jul 26, 2026

Chromosome Preparation From Cultured Cells
Published on: January 28, 2014
T D Wardinsky1, E Weinberger, R A Pagon
1Division of Congenital Defects, Children's Hospital and Medical Center, Seattle, WA 98105.
Abstract:
A patient with partial deletion of the long arm of chromosome 11[del(11)(q23.3----qter)] had macrocephalic trigonocephaly, growth and mental retardation, congenital heart defect, and characteristic facial appearance familiar to that of 33 other reported patients with this deletion. Computed tomography (CT) and magnetic resonance imaging of this infant's brain demonstrated abnormality of the supratentorial white matter. This may represent either deficiency or delay in myelination or possibly a demyelination process. No abnormalities in white matter were described in seven of 33 previously reported patients whose brains were examined by ultrasound, CT, or autopsy.
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