Refined genotype-phenotype correlations in cases of chromosome 6p deletion syndromes

G Mirza; R R Williams; S Mohammed; R Clark; R Newbury-Ecob; S Baldinger; F Flinter; J Ragoussis

doi:10.1038/sj.ejhg.5201194

Refined genotype-phenotype correlations in cases of chromosome 6p deletion syndromes

G Mirza, R R Williams, S Mohammed, R Clark, R Newbury-Ecob, S Baldinger, F Flinter, J Ragoussis

King's College London

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

57 Citations (Scopus)

Abstract

Clinical reports of cases with deletions in chromosome 6p are relatively rare. We present a detailed study by fluorescent in situ hybridisation (FISH) of six new cases with distinct but overlapping 6p deletions involving the 6p24-pter chromosomal segment. Chromosomal breakpoints in individual cases were investigated using a large panel of probes previously mapped and characterised in our laboratory to cover the distal region of 6p. These cases have allowed refinement of genotype-phenotype correlations and strongly suggest a gene involved in regulating the development of hearing is localised within 6p25. There is also evidence for one or more loci involved in heart, skeletal and craniofacial development in the 6p24-p25 region. Furthermore, the Dandy-Walker malformation is associated with deletion of 6p24-pter.

Original language	English
Pages (from-to)	718 - 728
Number of pages	11
Journal	European Journal of Human Genetics
Volume	12
Issue number	9
DOIs	https://doi.org/10.1038/sj.ejhg.5201194
Publication status	Published - Sept 2004

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abstract = "Clinical reports of cases with deletions in chromosome 6p are relatively rare. We present a detailed study by fluorescent in situ hybridisation (FISH) of six new cases with distinct but overlapping 6p deletions involving the 6p24-pter chromosomal segment. Chromosomal breakpoints in individual cases were investigated using a large panel of probes previously mapped and characterised in our laboratory to cover the distal region of 6p. These cases have allowed refinement of genotype-phenotype correlations and strongly suggest a gene involved in regulating the development of hearing is localised within 6p25. There is also evidence for one or more loci involved in heart, skeletal and craniofacial development in the 6p24-p25 region. Furthermore, the Dandy-Walker malformation is associated with deletion of 6p24-pter.",

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AU - Mirza, G

AU - Williams, R R

AU - Mohammed, S

AU - Clark, R

AU - Newbury-Ecob, R

AU - Baldinger, S

AU - Flinter, F

AU - Ragoussis, J

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AB - Clinical reports of cases with deletions in chromosome 6p are relatively rare. We present a detailed study by fluorescent in situ hybridisation (FISH) of six new cases with distinct but overlapping 6p deletions involving the 6p24-pter chromosomal segment. Chromosomal breakpoints in individual cases were investigated using a large panel of probes previously mapped and characterised in our laboratory to cover the distal region of 6p. These cases have allowed refinement of genotype-phenotype correlations and strongly suggest a gene involved in regulating the development of hearing is localised within 6p25. There is also evidence for one or more loci involved in heart, skeletal and craniofacial development in the 6p24-p25 region. Furthermore, the Dandy-Walker malformation is associated with deletion of 6p24-pter.

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DO - 10.1038/sj.ejhg.5201194

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Refined genotype-phenotype correlations in cases of chromosome 6p deletion syndromes

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