Duplication 18q21.31-q22.2

Caterina Ceccarini; Lorenzo Sinibaldi; Laura Bernardini; Roberto De Simone; Rita Mingarelli; Antonio Novelli; Bruno Dallapiccola

doi:10.1002/ajmg.a.31588

Duplication 18q21.31-q22.2

Caterina Ceccarini, Lorenzo Sinibaldi, Laura Bernardini, Roberto De Simone, Rita Mingarelli, Antonio Novelli, Bruno Dallapiccola

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

Abstract

We report on three siblings with mild mental retardation and minor dysmorphic features carrying an interstitial duplication of the long arm of chromosome 18 inherited from a healthy mosaic carrier mother. The duplicated region spanned between 18q21.31 and 18q22.2 for about 12 Mb. The distal duplications of 18q are rare and only a small number of subjects, manifesting quite different clinical outcomes, have been described. However, in most of these cases, molecular characterization was not available. We have reviewed nine patients, including three familial cases, displaying overlapping duplicated regions, and compared them with the present individuals in an attempt to delineate karyotype-phenotype correlation.

Original language	English
Pages (from-to)	343-348
Number of pages	6
Journal	American Journal of Medical Genetics, Part A
Volume	143
Issue number	4
DOIs	https://doi.org/10.1002/ajmg.a.31588
Publication status	Published - Feb 15 2007

Keywords

Chromosome 18q
Chromosome duplication
Dysmorphisms
Mental retardation

ASJC Scopus subject areas

Genetics(clinical)

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title = "Duplication 18q21.31-q22.2",

abstract = "We report on three siblings with mild mental retardation and minor dysmorphic features carrying an interstitial duplication of the long arm of chromosome 18 inherited from a healthy mosaic carrier mother. The duplicated region spanned between 18q21.31 and 18q22.2 for about 12 Mb. The distal duplications of 18q are rare and only a small number of subjects, manifesting quite different clinical outcomes, have been described. However, in most of these cases, molecular characterization was not available. We have reviewed nine patients, including three familial cases, displaying overlapping duplicated regions, and compared them with the present individuals in an attempt to delineate karyotype-phenotype correlation.",

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T1 - Duplication 18q21.31-q22.2

AU - Ceccarini, Caterina

AU - Sinibaldi, Lorenzo

AU - Bernardini, Laura

AU - De Simone, Roberto

AU - Mingarelli, Rita

AU - Novelli, Antonio

AU - Dallapiccola, Bruno

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N2 - We report on three siblings with mild mental retardation and minor dysmorphic features carrying an interstitial duplication of the long arm of chromosome 18 inherited from a healthy mosaic carrier mother. The duplicated region spanned between 18q21.31 and 18q22.2 for about 12 Mb. The distal duplications of 18q are rare and only a small number of subjects, manifesting quite different clinical outcomes, have been described. However, in most of these cases, molecular characterization was not available. We have reviewed nine patients, including three familial cases, displaying overlapping duplicated regions, and compared them with the present individuals in an attempt to delineate karyotype-phenotype correlation.

AB - We report on three siblings with mild mental retardation and minor dysmorphic features carrying an interstitial duplication of the long arm of chromosome 18 inherited from a healthy mosaic carrier mother. The duplicated region spanned between 18q21.31 and 18q22.2 for about 12 Mb. The distal duplications of 18q are rare and only a small number of subjects, manifesting quite different clinical outcomes, have been described. However, in most of these cases, molecular characterization was not available. We have reviewed nine patients, including three familial cases, displaying overlapping duplicated regions, and compared them with the present individuals in an attempt to delineate karyotype-phenotype correlation.

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KW - Dysmorphisms

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