Patient with de novo 12p+ syndrome identified as dir dup (12)(p13) using subchromosomal painting libraries from somatic cell hybrids

L. Zelante; S. Calvano; B. Dallapiccola; R. Mingarelli; R. Antonacci; L. Chiovato; M. Rocchi

Patient with de novo 12p+ syndrome identified as dir dup (12)(p13) using subchromosomal painting libraries from somatic cell hybrids

L. Zelante, S. Calvano, B. Dallapiccola, R. Mingarelli, R. Antonacci, L. Chiovato, M. Rocchi

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

Abstract

Several patients with partial 12p duplications are known. An additional patient, who presented with the clinical manifestations of trisomy 12p syndrome, is described. De novo duplication 12p13.1 → pter was diagnosed using subchromosomal painting libraries obtained from somatic cell hybrids.

Original language	English
Pages (from-to)	368-371
Number of pages	4
Journal	Clinical Genetics
Volume	46
Issue number	5
Publication status	Published - 1994

Keywords

Chromosome 12p duplication
Chromosome painting
Fluorescence in situ hybridization
Subchromosomal painting

ASJC Scopus subject areas

Genetics
Genetics(clinical)

Cite this

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title = "Patient with de novo 12p+ syndrome identified as dir dup (12)(p13) using subchromosomal painting libraries from somatic cell hybrids",

abstract = "Several patients with partial 12p duplications are known. An additional patient, who presented with the clinical manifestations of trisomy 12p syndrome, is described. De novo duplication 12p13.1 → pter was diagnosed using subchromosomal painting libraries obtained from somatic cell hybrids.",

keywords = "Chromosome 12p duplication, Chromosome painting, Fluorescence in situ hybridization, Subchromosomal painting",

author = "L. Zelante and S. Calvano and B. Dallapiccola and R. Mingarelli and R. Antonacci and L. Chiovato and M. Rocchi",

year = "1994",

language = "English",

volume = "46",

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journal = "Clinical Genetics",

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AU - Zelante, L.

AU - Calvano, S.

AU - Dallapiccola, B.

AU - Mingarelli, R.

AU - Antonacci, R.

AU - Chiovato, L.

AU - Rocchi, M.

PY - 1994

Y1 - 1994

N2 - Several patients with partial 12p duplications are known. An additional patient, who presented with the clinical manifestations of trisomy 12p syndrome, is described. De novo duplication 12p13.1 → pter was diagnosed using subchromosomal painting libraries obtained from somatic cell hybrids.

AB - Several patients with partial 12p duplications are known. An additional patient, who presented with the clinical manifestations of trisomy 12p syndrome, is described. De novo duplication 12p13.1 → pter was diagnosed using subchromosomal painting libraries obtained from somatic cell hybrids.

KW - Chromosome 12p duplication

KW - Chromosome painting

KW - Fluorescence in situ hybridization

KW - Subchromosomal painting

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AN - SCOPUS:0028073157

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JO - Clinical Genetics

JF - Clinical Genetics

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Patient with de novo 12p+ syndrome identified as dir dup (12)(p13) using subchromosomal painting libraries from somatic cell hybrids

Abstract

Keywords

ASJC Scopus subject areas

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