Reassessment of a chromosome 12q + marker by fluorescent in situ hybridization (FISH)

A. Jaziorowska; G. E. Houck; X. ‐L Yao; S. L. Sklower‐Brooks; K. E. Wisniewski; E. C. Jenkins; H. M. Wisniewski

doi:10.1111/j.1399-0004.1992.tb03223.x

Reassessment of a chromosome 12q + marker by fluorescent in situ hybridization (FISH)

A. Jaziorowska, G. E. Houck, X. ‐L Yao, S. L. Sklower‐Brooks, K. E. Wisniewski, E. C. Jenkins, H. M. Wisniewski

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

4 Scopus citations

Abstract

We present a case previously described by Jenkins et al. (1983) as atypical Down syndrome (DS). The initial diagnosis was first made on the basis of phenotypic and cytogenetic data. This analysis was supported by studies of superoxide dismutase (SOD1) activity that maps to band 21q22.1. Results from phenotypic, chromosome banding and SODI studies suggested a karyotype of 46,XX,—12, + t(12pter to 12qter::21q21 to 21q22.?2). Using fluorescent in situ hybridization (FISH) for chromosome painting with DNA libraries derived from sorted human chromosomes to stain selectively the chromosomes No. 21 and No. 12, we demonstrate that the marker chromosome 12q+ has no chromosome 21 content but it is derived from chromosome 12.

Original language	English (US)
Pages (from-to)	124-128
Number of pages	5
Journal	Clinical Genetics
Volume	42
Issue number	3
DOIs	https://doi.org/10.1111/j.1399-0004.1992.tb03223.x
State	Published - Sep 1992
Externally published	Yes

All Science Journal Classification (ASJC) codes

Genetics
Genetics(clinical)

Keywords

chromosome painting
fluorescent in situ hybridization (FISH)
marker chromosome 12q+
partial trisomy 12

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10.1111/j.1399-0004.1992.tb03223.x

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title = "Reassessment of a chromosome 12q + marker by fluorescent in situ hybridization (FISH)",

abstract = "We present a case previously described by Jenkins et al. (1983) as atypical Down syndrome (DS). The initial diagnosis was first made on the basis of phenotypic and cytogenetic data. This analysis was supported by studies of superoxide dismutase (SOD1) activity that maps to band 21q22.1. Results from phenotypic, chromosome banding and SODI studies suggested a karyotype of 46,XX,—12, + t(12pter to 12qter::21q21 to 21q22.?2). Using fluorescent in situ hybridization (FISH) for chromosome painting with DNA libraries derived from sorted human chromosomes to stain selectively the chromosomes No. 21 and No. 12, we demonstrate that the marker chromosome 12q+ has no chromosome 21 content but it is derived from chromosome 12.",

keywords = "chromosome painting, fluorescent in situ hybridization (FISH), marker chromosome 12q+, partial trisomy 12",

author = "A. Jaziorowska and Houck, {G. E.} and Yao, {X. ‐L} and Sklower‐Brooks, {S. L.} and Wisniewski, {K. E.} and Jenkins, {E. C.} and Wisniewski, {H. M.}",

year = "1992",

month = sep,

doi = "10.1111/j.1399-0004.1992.tb03223.x",

language = "English (US)",

volume = "42",

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journal = "Clinical Genetics",

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T1 - Reassessment of a chromosome 12q + marker by fluorescent in situ hybridization (FISH)

AU - Jaziorowska, A.

AU - Houck, G. E.

AU - Yao, X. ‐L

AU - Sklower‐Brooks, S. L.

AU - Wisniewski, K. E.

AU - Jenkins, E. C.

AU - Wisniewski, H. M.

PY - 1992/9

Y1 - 1992/9

N2 - We present a case previously described by Jenkins et al. (1983) as atypical Down syndrome (DS). The initial diagnosis was first made on the basis of phenotypic and cytogenetic data. This analysis was supported by studies of superoxide dismutase (SOD1) activity that maps to band 21q22.1. Results from phenotypic, chromosome banding and SODI studies suggested a karyotype of 46,XX,—12, + t(12pter to 12qter::21q21 to 21q22.?2). Using fluorescent in situ hybridization (FISH) for chromosome painting with DNA libraries derived from sorted human chromosomes to stain selectively the chromosomes No. 21 and No. 12, we demonstrate that the marker chromosome 12q+ has no chromosome 21 content but it is derived from chromosome 12.

AB - We present a case previously described by Jenkins et al. (1983) as atypical Down syndrome (DS). The initial diagnosis was first made on the basis of phenotypic and cytogenetic data. This analysis was supported by studies of superoxide dismutase (SOD1) activity that maps to band 21q22.1. Results from phenotypic, chromosome banding and SODI studies suggested a karyotype of 46,XX,—12, + t(12pter to 12qter::21q21 to 21q22.?2). Using fluorescent in situ hybridization (FISH) for chromosome painting with DNA libraries derived from sorted human chromosomes to stain selectively the chromosomes No. 21 and No. 12, we demonstrate that the marker chromosome 12q+ has no chromosome 21 content but it is derived from chromosome 12.

KW - chromosome painting

KW - fluorescent in situ hybridization (FISH)

KW - marker chromosome 12q+

KW - partial trisomy 12

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JO - Clinical Genetics

JF - Clinical Genetics

IS - 3

ER -

Reassessment of a chromosome 12q + marker by fluorescent in situ hybridization (FISH)

Abstract

All Science Journal Classification (ASJC) codes

Keywords

Access to Document

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