Characterization of a de novo complex chromosomal rearrangement in a patient with cri-du-chat and trisomy 5p syndromes

Ascensión Vera-Carbonell; Juan Antonio Bafalliu; Encarna Guillén-Navarro; Ariadna Escalona; María J. Ballesta-Martínez; Carme Fuster; Asunción Fernández; Isabel López-Expósito

doi:10.1002/ajmg.a.33055

Characterization of a de novo complex chromosomal rearrangement in a patient with cri-du-chat and trisomy 5p syndromes

Ascensión Vera-Carbonell, Juan Antonio Bafalliu, Encarna Guillén-Navarro, Ariadna Escalona, María J. Ballesta-Martínez, Carme Fuster, Asunción Fernández, Isabel López-Expósito

Department of Cellular Biology, Physiology and Immunology

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

10 Citations (Scopus)

Abstract

Two syndromes with abnormalities of the short arm of chromosome 5 have been described: cri-du-chat (resulting from 5p deletion) and trisomy 5p. We report for the first time a patient with both syndromes, resulting from a complex chromosomal rearrangement with an inverted duplication of 5p13.1-p14.2, a deletion of 5p14.2-pter, and a duplication of 5p12, characterized by array-CGH and BAC clones. The patient showed phenotypic characteristics of both syndromes and died at 3months of age as a result of cardiorespiratory failure, probably associated with the clinical severity of the trisomy 5p syndrome. We propose a potential causative mechanism for this rearrangement. © 2009 Wiley-Liss, Inc.

Original language	English
Pages (from-to)	2513-2521
Journal	American Journal of Medical Genetics, Part A
Volume	149
Issue number	11
DOIs	https://doi.org/10.1002/ajmg.a.33055
Publication status	Published - 1 Nov 2009

Keywords

Array -CGH analysis
Cri-du-chat syndrome
Deletion inverted duplication 5p
FISH analysis
Trisomy 5p syndrome

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10.1002/ajmg.a.33055

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Vera-Carbonell, A., Bafalliu, J. A., Guillén-Navarro, E., Escalona, A., Ballesta-Martínez, M. J., Fuster, C., Fernández, A., & López-Expósito, I. (2009). Characterization of a de novo complex chromosomal rearrangement in a patient with cri-du-chat and trisomy 5p syndromes. American Journal of Medical Genetics, Part A, 149(11), 2513-2521. https://doi.org/10.1002/ajmg.a.33055

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title = "Characterization of a de novo complex chromosomal rearrangement in a patient with cri-du-chat and trisomy 5p syndromes",

abstract = "Two syndromes with abnormalities of the short arm of chromosome 5 have been described: cri-du-chat (resulting from 5p deletion) and trisomy 5p. We report for the first time a patient with both syndromes, resulting from a complex chromosomal rearrangement with an inverted duplication of 5p13.1-p14.2, a deletion of 5p14.2-pter, and a duplication of 5p12, characterized by array-CGH and BAC clones. The patient showed phenotypic characteristics of both syndromes and died at 3months of age as a result of cardiorespiratory failure, probably associated with the clinical severity of the trisomy 5p syndrome. We propose a potential causative mechanism for this rearrangement. {\textcopyright} 2009 Wiley-Liss, Inc.",

keywords = "Array -CGH analysis, Cri-du-chat syndrome, Deletion inverted duplication 5p, FISH analysis, Trisomy 5p syndrome",

author = "Ascensi{\'o}n Vera-Carbonell and Bafalliu, {Juan Antonio} and Encarna Guill{\'e}n-Navarro and Ariadna Escalona and Ballesta-Mart{\'i}nez, {Mar{\'i}a J.} and Carme Fuster and Asunci{\'o}n Fern{\'a}ndez and Isabel L{\'o}pez-Exp{\'o}sito",

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Vera-Carbonell, A, Bafalliu, JA, Guillén-Navarro, E, Escalona, A, Ballesta-Martínez, MJ, Fuster, C, Fernández, A & López-Expósito, I 2009, 'Characterization of a de novo complex chromosomal rearrangement in a patient with cri-du-chat and trisomy 5p syndromes', American Journal of Medical Genetics, Part A, vol. 149, no. 11, pp. 2513-2521. https://doi.org/10.1002/ajmg.a.33055

Characterization of a de novo complex chromosomal rearrangement in a patient with cri-du-chat and trisomy 5p syndromes. / Vera-Carbonell, Ascensión; Bafalliu, Juan Antonio; Guillén-Navarro, Encarna et al.

In: American Journal of Medical Genetics, Part A, Vol. 149, No. 11, 01.11.2009, p. 2513-2521.

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

TY - JOUR

T1 - Characterization of a de novo complex chromosomal rearrangement in a patient with cri-du-chat and trisomy 5p syndromes

AU - Vera-Carbonell, Ascensión

AU - Bafalliu, Juan Antonio

AU - Guillén-Navarro, Encarna

AU - Escalona, Ariadna

AU - Ballesta-Martínez, María J.

AU - Fuster, Carme

AU - Fernández, Asunción

AU - López-Expósito, Isabel

PY - 2009/11/1

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N2 - Two syndromes with abnormalities of the short arm of chromosome 5 have been described: cri-du-chat (resulting from 5p deletion) and trisomy 5p. We report for the first time a patient with both syndromes, resulting from a complex chromosomal rearrangement with an inverted duplication of 5p13.1-p14.2, a deletion of 5p14.2-pter, and a duplication of 5p12, characterized by array-CGH and BAC clones. The patient showed phenotypic characteristics of both syndromes and died at 3months of age as a result of cardiorespiratory failure, probably associated with the clinical severity of the trisomy 5p syndrome. We propose a potential causative mechanism for this rearrangement. © 2009 Wiley-Liss, Inc.

AB - Two syndromes with abnormalities of the short arm of chromosome 5 have been described: cri-du-chat (resulting from 5p deletion) and trisomy 5p. We report for the first time a patient with both syndromes, resulting from a complex chromosomal rearrangement with an inverted duplication of 5p13.1-p14.2, a deletion of 5p14.2-pter, and a duplication of 5p12, characterized by array-CGH and BAC clones. The patient showed phenotypic characteristics of both syndromes and died at 3months of age as a result of cardiorespiratory failure, probably associated with the clinical severity of the trisomy 5p syndrome. We propose a potential causative mechanism for this rearrangement. © 2009 Wiley-Liss, Inc.

KW - Array -CGH analysis

KW - Cri-du-chat syndrome

KW - Deletion inverted duplication 5p

KW - FISH analysis

KW - Trisomy 5p syndrome

U2 - 10.1002/ajmg.a.33055

DO - 10.1002/ajmg.a.33055

M3 - Article

SN - 1552-4825

VL - 149

SP - 2513

EP - 2521

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

IS - 11

ER -

Characterization of a de novo complex chromosomal rearrangement in a patient with cri-du-chat and trisomy 5p syndromes

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Keywords

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