A rare chromosome 5 heterochromatic variant derived from insertion of 9qh satellite 3 sequences

Luisa Doneda; Paola Gandolfi; Gianfranco Nocera; Lidia Larizza

doi:10.1023/A:1009237608514

A rare chromosome 5 heterochromatic variant derived from insertion of 9qh satellite 3 sequences

Luisa Doneda, Paola Gandolfi, Gianfranco Nocera, Lidia Larizza

Fondazione Istituto Auxologico Italiano

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

Abstract

A rare chromosome 5 heterochromatic variant not linked to any clinical sign was identified in a three-generation family. After performing conventional cytogenetics characterization, fluorescence in situ hybridization of D9Z1 indicated that the unusually large qh region of chromosome 5 originated from 9qh, whereas the centromere of the variant chromosome was 5-specific as demonstrated by primed in situ DNA labelling. FISH of probes targeting satellite 3 and β-satellite sequences of 9qh showed that only satellite 3 sequences were present in the variant 5qh region.

Original language	English
Pages (from-to)	411-414
Number of pages	4
Journal	Chromosome Research
Volume	6
Issue number	5
DOIs	https://doi.org/10.1023/A:1009237608514
Publication status	Published - 1998

Keywords

Chromosome 5
Chromosome 9
Chromosome rearrangement
Fluorescence in situ hybridization
Heterochromatin polymorphism

ASJC Scopus subject areas

Genetics

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10.1023/A:1009237608514

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title = "A rare chromosome 5 heterochromatic variant derived from insertion of 9qh satellite 3 sequences",

abstract = "A rare chromosome 5 heterochromatic variant not linked to any clinical sign was identified in a three-generation family. After performing conventional cytogenetics characterization, fluorescence in situ hybridization of D9Z1 indicated that the unusually large qh region of chromosome 5 originated from 9qh, whereas the centromere of the variant chromosome was 5-specific as demonstrated by primed in situ DNA labelling. FISH of probes targeting satellite 3 and β-satellite sequences of 9qh showed that only satellite 3 sequences were present in the variant 5qh region.",

keywords = "Chromosome 5, Chromosome 9, Chromosome rearrangement, Fluorescence in situ hybridization, Heterochromatin polymorphism",

author = "Luisa Doneda and Paola Gandolfi and Gianfranco Nocera and Lidia Larizza",

year = "1998",

doi = "10.1023/A:1009237608514",

language = "English",

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pages = "411--414",

journal = "Chromosome Research",

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T1 - A rare chromosome 5 heterochromatic variant derived from insertion of 9qh satellite 3 sequences

AU - Doneda, Luisa

AU - Gandolfi, Paola

AU - Nocera, Gianfranco

AU - Larizza, Lidia

PY - 1998

Y1 - 1998

N2 - A rare chromosome 5 heterochromatic variant not linked to any clinical sign was identified in a three-generation family. After performing conventional cytogenetics characterization, fluorescence in situ hybridization of D9Z1 indicated that the unusually large qh region of chromosome 5 originated from 9qh, whereas the centromere of the variant chromosome was 5-specific as demonstrated by primed in situ DNA labelling. FISH of probes targeting satellite 3 and β-satellite sequences of 9qh showed that only satellite 3 sequences were present in the variant 5qh region.

AB - A rare chromosome 5 heterochromatic variant not linked to any clinical sign was identified in a three-generation family. After performing conventional cytogenetics characterization, fluorescence in situ hybridization of D9Z1 indicated that the unusually large qh region of chromosome 5 originated from 9qh, whereas the centromere of the variant chromosome was 5-specific as demonstrated by primed in situ DNA labelling. FISH of probes targeting satellite 3 and β-satellite sequences of 9qh showed that only satellite 3 sequences were present in the variant 5qh region.

KW - Chromosome 5

KW - Chromosome 9

KW - Chromosome rearrangement

KW - Fluorescence in situ hybridization

KW - Heterochromatin polymorphism

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JF - Chromosome Research

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A rare chromosome 5 heterochromatic variant derived from insertion of 9qh satellite 3 sequences

Abstract

Keywords

ASJC Scopus subject areas

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