A case of 9p-syndrome identified chromosome 20 on chromosome 9p by M-FISH

N. Koseki; Y. Obara; A. Ookawa; M. Katsumi; T. Funato; M. Kaku

A case of 9p-syndrome identified chromosome 20 on chromosome 9p by M-FISH

N. Koseki, Y. Obara, A. Ookawa, M. Katsumi, T. Funato, M. Kaku

MED - Medical Sciences

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

Abstract

In this report, we describe one-year-old girl diagnosed with 9p-syndrome. Cytogenetic studies of this patient confirmed a karyotype of 46,XX,add(9) (p24) chromosome, but could not find the additional fragment on 9p22 in one allele. Fluorescence in situ hybridization (FISH) studies could not confirm the fragment in the patient using the LIS1 gene probe which mapped to 9p22. The more recently developed M-FISH method clearly showed that the additional fragment was 20p in this patient. These findings suggest that M-FISH analysis may be a useful method for identifying unknown additional and rearranged chromosomes.

Original language	English
Pages (from-to)	1045-1048
Number of pages	4
Journal	Rinsho byori. The Japanese journal of clinical pathology
Volume	49
Issue number	10
Publication status	Published - 2001 Oct

ASJC Scopus subject areas

Medicine(all)

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title = "A case of 9p-syndrome identified chromosome 20 on chromosome 9p by M-FISH",

abstract = "In this report, we describe one-year-old girl diagnosed with 9p-syndrome. Cytogenetic studies of this patient confirmed a karyotype of 46,XX,add(9) (p24) chromosome, but could not find the additional fragment on 9p22 in one allele. Fluorescence in situ hybridization (FISH) studies could not confirm the fragment in the patient using the LIS1 gene probe which mapped to 9p22. The more recently developed M-FISH method clearly showed that the additional fragment was 20p in this patient. These findings suggest that M-FISH analysis may be a useful method for identifying unknown additional and rearranged chromosomes.",

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AU - Koseki, N.

AU - Obara, Y.

AU - Ookawa, A.

AU - Katsumi, M.

AU - Funato, T.

AU - Kaku, M.

PY - 2001/10

Y1 - 2001/10

N2 - In this report, we describe one-year-old girl diagnosed with 9p-syndrome. Cytogenetic studies of this patient confirmed a karyotype of 46,XX,add(9) (p24) chromosome, but could not find the additional fragment on 9p22 in one allele. Fluorescence in situ hybridization (FISH) studies could not confirm the fragment in the patient using the LIS1 gene probe which mapped to 9p22. The more recently developed M-FISH method clearly showed that the additional fragment was 20p in this patient. These findings suggest that M-FISH analysis may be a useful method for identifying unknown additional and rearranged chromosomes.

AB - In this report, we describe one-year-old girl diagnosed with 9p-syndrome. Cytogenetic studies of this patient confirmed a karyotype of 46,XX,add(9) (p24) chromosome, but could not find the additional fragment on 9p22 in one allele. Fluorescence in situ hybridization (FISH) studies could not confirm the fragment in the patient using the LIS1 gene probe which mapped to 9p22. The more recently developed M-FISH method clearly showed that the additional fragment was 20p in this patient. These findings suggest that M-FISH analysis may be a useful method for identifying unknown additional and rearranged chromosomes.

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IS - 10

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A case of 9p-syndrome identified chromosome 20 on chromosome 9p by M-FISH

Abstract

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