Identification of two de novo partial trisomies by comparative genomic hybridization

Ma Rigola; M. Carrera; I. Ribas; C. De La Iglesia; B. Mendez; J. Egozcue; C. Fuster

doi:https://doi.org/10.1034/j.1399-0004.2001.590207.x

Identification of two de novo partial trisomies by comparative genomic hybridization

Ma Rigola, M. Carrera, I. Ribas, C. De La Iglesia, B. Mendez, J. Egozcue, C. Fuster

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6 Citations (Scopus)

Abstract

We report the use of comparative genomic hybridization (CGH) to define the extra chromosome region present in two de novo partial trisomies 15q25-qter and Xp21-pter, which could not be clarified by conventional G-banding. Investigation with fluorescence in situ hybridization (FISH) revealed that the partial trisomy corresponded to an unbalanced translocation between Y and 15 chromosomes in 1 patient and an unbalanced X/X reorganization in the other patient. The combination of classical karyotyping, CGH, and FISH is useful for the identification and characterization of partial trisomies in clinical diagnostic laboratories, in order to delineate the chromosome regions implicated in specific clinical disorders.

Original language	English
Pages (from-to)	106-110
Journal	Clinical Genetics
Volume	59
DOIs	https://doi.org/10.1034/j.1399-0004.2001.590207.x
Publication status	Published - 28 Mar 2001

Keywords

CGH
FISH
Partial trisomy 15q and partial trisomy Xp
Phenotype/genotype correlation

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https://doi.org/10.1034/j.1399-0004.2001.590207.x

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title = "Identification of two de novo partial trisomies by comparative genomic hybridization",

abstract = "We report the use of comparative genomic hybridization (CGH) to define the extra chromosome region present in two de novo partial trisomies 15q25-qter and Xp21-pter, which could not be clarified by conventional G-banding. Investigation with fluorescence in situ hybridization (FISH) revealed that the partial trisomy corresponded to an unbalanced translocation between Y and 15 chromosomes in 1 patient and an unbalanced X/X reorganization in the other patient. The combination of classical karyotyping, CGH, and FISH is useful for the identification and characterization of partial trisomies in clinical diagnostic laboratories, in order to delineate the chromosome regions implicated in specific clinical disorders.",

keywords = "CGH, FISH, Partial trisomy 15q and partial trisomy Xp, Phenotype/genotype correlation",

author = "Ma Rigola and M. Carrera and I. Ribas and {De La Iglesia}, C. and B. Mendez and J. Egozcue and C. Fuster",

year = "2001",

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doi = "https://doi.org/10.1034/j.1399-0004.2001.590207.x",

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T1 - Identification of two de novo partial trisomies by comparative genomic hybridization

AU - Rigola, Ma

AU - Carrera, M.

AU - Ribas, I.

AU - De La Iglesia, C.

AU - Mendez, B.

AU - Egozcue, J.

AU - Fuster, C.

PY - 2001/3/28

Y1 - 2001/3/28

N2 - We report the use of comparative genomic hybridization (CGH) to define the extra chromosome region present in two de novo partial trisomies 15q25-qter and Xp21-pter, which could not be clarified by conventional G-banding. Investigation with fluorescence in situ hybridization (FISH) revealed that the partial trisomy corresponded to an unbalanced translocation between Y and 15 chromosomes in 1 patient and an unbalanced X/X reorganization in the other patient. The combination of classical karyotyping, CGH, and FISH is useful for the identification and characterization of partial trisomies in clinical diagnostic laboratories, in order to delineate the chromosome regions implicated in specific clinical disorders.

AB - We report the use of comparative genomic hybridization (CGH) to define the extra chromosome region present in two de novo partial trisomies 15q25-qter and Xp21-pter, which could not be clarified by conventional G-banding. Investigation with fluorescence in situ hybridization (FISH) revealed that the partial trisomy corresponded to an unbalanced translocation between Y and 15 chromosomes in 1 patient and an unbalanced X/X reorganization in the other patient. The combination of classical karyotyping, CGH, and FISH is useful for the identification and characterization of partial trisomies in clinical diagnostic laboratories, in order to delineate the chromosome regions implicated in specific clinical disorders.

KW - CGH

KW - FISH

KW - Partial trisomy 15q and partial trisomy Xp

KW - Phenotype/genotype correlation

U2 - https://doi.org/10.1034/j.1399-0004.2001.590207.x

DO - https://doi.org/10.1034/j.1399-0004.2001.590207.x

M3 - Article

SN - 0009-9163

VL - 59

SP - 106

EP - 110

JO - Clinical Genetics

JF - Clinical Genetics

ER -

Identification of two de novo partial trisomies by comparative genomic hybridization

Abstract

Keywords

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