Duplication 8 [inv dup(8)(p12p23)] with macrocephaly

Vijay S. Tonk; Golder N. Wilson; Gopalrao V.N. Velagaleti

doi:10.1016/S0003-3995(01)01089-9

Duplication 8 [inv dup(8)(p12p23)] with macrocephaly

Vijay S. Tonk, Golder N. Wilson, Gopalrao V.N. Velagaleti

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

7 Scopus citations

Abstract

A 10-month old female is described with inv dup(8)(p12p23) who had macrocephaly with subtle changes in facial appearance and no structural birth defects. Her findings, together with those of 37 reported cases with inv dup (8), define a syndrome that emphasizes the importance of genes on the 8p region for brain development.

Original language	English (US)
Pages (from-to)	195-199
Number of pages	5
Journal	Annales de Genetique
Volume	44
Issue number	4
DOIs	https://doi.org/10.1016/S0003-3995(01)01089-9
State	Published - 2001
Externally published	Yes

Keywords

Chromosome aberrations
Dup(8p) syndrome
Macrocephaly

ASJC Scopus subject areas

Genetics

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10.1016/S0003-3995(01)01089-9

Cite this

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abstract = "A 10-month old female is described with inv dup(8)(p12p23) who had macrocephaly with subtle changes in facial appearance and no structural birth defects. Her findings, together with those of 37 reported cases with inv dup (8), define a syndrome that emphasizes the importance of genes on the 8p region for brain development.",

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author = "Tonk, {Vijay S.} and Wilson, {Golder N.} and Velagaleti, {Gopalrao V.N.}",

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AU - Wilson, Golder N.

AU - Velagaleti, Gopalrao V.N.

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AB - A 10-month old female is described with inv dup(8)(p12p23) who had macrocephaly with subtle changes in facial appearance and no structural birth defects. Her findings, together with those of 37 reported cases with inv dup (8), define a syndrome that emphasizes the importance of genes on the 8p region for brain development.

KW - Chromosome aberrations

KW - Dup(8p) syndrome

KW - Macrocephaly

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Duplication 8 [inv dup(8)(p12p23)] with macrocephaly

Abstract

Keywords

ASJC Scopus subject areas

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