Septo-optic dysplasia and dentato-olivary dysplasia in a case of 18q deletion/3p trisomy

V. Singh; C. P. Boesel; P. Baker

Septo-optic dysplasia and dentato-olivary dysplasia in a case of 18q deletion/3p trisomy

V. Singh, C. P. Boesel, P. Baker

Research output: Contribution to journal › Article › peer-review

Abstract

The brain of an 18q deletion/3p trisomy patient is described. The findings revealed septo-optic dysplasia, dentato-olivary dysplasia, deficiency of myelination and disordered neuronal migration. Many of these pathological changes overlap the findings previously described in 18q deletion. An understanding of the pathological changes in the brain of these individuals provides the basis for therapeutic management of their symptoms.

Original language	English (US)
Pages (from-to)	28-33
Number of pages	6
Journal	Clinical Neuropathology
Volume	23
Issue number	1
State	Published - Jan 1 2004
Externally published	Yes

Keywords

18q deletion
3p trisomy
Dentato-olivary dysplasia
Hypopituitarism
Septo-optic dysplasia

ASJC Scopus subject areas

Pathology and Forensic Medicine
Neurology
Clinical Neurology

Cite this

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abstract = "The brain of an 18q deletion/3p trisomy patient is described. The findings revealed septo-optic dysplasia, dentato-olivary dysplasia, deficiency of myelination and disordered neuronal migration. Many of these pathological changes overlap the findings previously described in 18q deletion. An understanding of the pathological changes in the brain of these individuals provides the basis for therapeutic management of their symptoms.",

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N2 - The brain of an 18q deletion/3p trisomy patient is described. The findings revealed septo-optic dysplasia, dentato-olivary dysplasia, deficiency of myelination and disordered neuronal migration. Many of these pathological changes overlap the findings previously described in 18q deletion. An understanding of the pathological changes in the brain of these individuals provides the basis for therapeutic management of their symptoms.

AB - The brain of an 18q deletion/3p trisomy patient is described. The findings revealed septo-optic dysplasia, dentato-olivary dysplasia, deficiency of myelination and disordered neuronal migration. Many of these pathological changes overlap the findings previously described in 18q deletion. An understanding of the pathological changes in the brain of these individuals provides the basis for therapeutic management of their symptoms.

KW - 18q deletion

KW - 3p trisomy

KW - Dentato-olivary dysplasia

KW - Hypopituitarism

KW - Septo-optic dysplasia

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Septo-optic dysplasia and dentato-olivary dysplasia in a case of 18q deletion/3p trisomy

Abstract

Keywords

ASJC Scopus subject areas

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