Trisomy 8p: unusual origin detected by fluorescence in situ hybridization

Charleen M. Moore; Katrina Barnum; Celia I. Kaye; Kathleen S. Kagan-Hallett; Jan C. Liang

doi:10.1007/BF00220547

Trisomy 8p: unusual origin detected by fluorescence in situ hybridization

Charleen M. Moore, Katrina Barnum, Celia I. Kaye, Kathleen S. Kagan-Hallett, Jan C. Liang

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Abstract

Chromosomal analysis of a neonate with brain and heart abnormalities revealed trisomy for 8p. The mother's karyotype showed 47 chromosomes with one chromosome 8 being represented as two separate chromosomes, an acrocentric 8p and a telocentric 8q. Gbanding and silver staining revealed a satellite and nucleolus organizing region (NOR) on the 8p. Centromericspecific probes to the centromeres of chromosomes 8, 15, 13/21, 22 and the acrocentric chromosomes revealed that only the 8q centromere was of chromosome-8 origin, while the 8p centromere was of chromosome-14 origin.

Original language	English (US)
Pages (from-to)	307-310
Number of pages	4
Journal	Human Genetics
Volume	89
Issue number	3
DOIs	https://doi.org/10.1007/BF00220547
State	Published - May 1992

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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@article{8b878360b80d44c4b5e3e316c9814f4d,

title = "Trisomy 8p: unusual origin detected by fluorescence in situ hybridization",

abstract = "Chromosomal analysis of a neonate with brain and heart abnormalities revealed trisomy for 8p. The mother's karyotype showed 47 chromosomes with one chromosome 8 being represented as two separate chromosomes, an acrocentric 8p and a telocentric 8q. Gbanding and silver staining revealed a satellite and nucleolus organizing region (NOR) on the 8p. Centromericspecific probes to the centromeres of chromosomes 8, 15, 13/21, 22 and the acrocentric chromosomes revealed that only the 8q centromere was of chromosome-8 origin, while the 8p centromere was of chromosome-14 origin.",

author = "Moore, {Charleen M.} and Katrina Barnum and Kaye, {Celia I.} and Kagan-Hallett, {Kathleen S.} and Liang, {Jan C.}",

year = "1992",

month = may,

doi = "10.1007/BF00220547",

language = "English (US)",

volume = "89",

pages = "307--310",

journal = "Human Genetics",

issn = "0340-6717",

publisher = "Springer Science and Business Media Deutschland GmbH",

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TY - JOUR

T1 - Trisomy 8p

T2 - unusual origin detected by fluorescence in situ hybridization

AU - Moore, Charleen M.

AU - Barnum, Katrina

AU - Kaye, Celia I.

AU - Kagan-Hallett, Kathleen S.

AU - Liang, Jan C.

PY - 1992/5

Y1 - 1992/5

N2 - Chromosomal analysis of a neonate with brain and heart abnormalities revealed trisomy for 8p. The mother's karyotype showed 47 chromosomes with one chromosome 8 being represented as two separate chromosomes, an acrocentric 8p and a telocentric 8q. Gbanding and silver staining revealed a satellite and nucleolus organizing region (NOR) on the 8p. Centromericspecific probes to the centromeres of chromosomes 8, 15, 13/21, 22 and the acrocentric chromosomes revealed that only the 8q centromere was of chromosome-8 origin, while the 8p centromere was of chromosome-14 origin.

AB - Chromosomal analysis of a neonate with brain and heart abnormalities revealed trisomy for 8p. The mother's karyotype showed 47 chromosomes with one chromosome 8 being represented as two separate chromosomes, an acrocentric 8p and a telocentric 8q. Gbanding and silver staining revealed a satellite and nucleolus organizing region (NOR) on the 8p. Centromericspecific probes to the centromeres of chromosomes 8, 15, 13/21, 22 and the acrocentric chromosomes revealed that only the 8q centromere was of chromosome-8 origin, while the 8p centromere was of chromosome-14 origin.

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JO - Human Genetics

JF - Human Genetics

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Trisomy 8p: unusual origin detected by fluorescence in situ hybridization

Abstract

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