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Partial deletion of the long arm of chromosome 11 [del(11)(q23.3→qter)] with abnormal white matter

✍ Scribed by Wardinsky, Terrance D. ;Weinberger, Ed ;Pagon, Roberta A. ;Clarren, Sterling K. ;Thuline, Horace C.

Publisher: John Wiley and Sons
Year: 1990
Tongue: English
Weight: 396 KB
Volume: 35
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320350111

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✦ Synopsis

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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