A case of Miller-Dieker syndrome associated with satellite on chromosome 17p

Y. Obara; N. Koseki; J. Fujiwara; M. Kikuchi; T. Miura; T. Funato; Mitsuo Kaku

A case of Miller-Dieker syndrome associated with satellite on chromosome 17p

Y. Obara, N. Koseki, J. Fujiwara, M. Kikuchi, T. Miura, T. Funato, Mitsuo Kaku

MED - Medical Sciences

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

Abstract

In this report, we describe a one-year-old girl of the Miller-Dieker syndrome(MDS) with lissencephaly, seizures, microcephaly and mental disorders. Cytogenetic studies of this patient confirmed the presence of a 46,XX, 17ps+ chromosome karyotype, but it could not find the microdeletion of 17p13.3. Fluorescence in situ hybridization(FISH) studies confirmed a terminal deletion in the patient using the LIS1 gene probe which mapped to 17p13.3. Further it was also found the satellite on 17p13(17ps) in the patient who was rare associated with MDS. These findings suggest that FISH analysis may be useful method to detect microdeletion of LIS1 gene as 17-specific probe in the investigation of MDS patients.

Original language	English
Pages (from-to)	189-192
Number of pages	4
Journal	Rinsho byori. The Japanese journal of clinical pathology
Volume	49
Issue number	2
Publication status	Published - 2001 Jan 1

ASJC Scopus subject areas

Medicine(all)

Cite this

@article{d533d2ea70f34ce4bf7f04fca70d5803,

title = "A case of Miller-Dieker syndrome associated with satellite on chromosome 17p",

abstract = "In this report, we describe a one-year-old girl of the Miller-Dieker syndrome(MDS) with lissencephaly, seizures, microcephaly and mental disorders. Cytogenetic studies of this patient confirmed the presence of a 46,XX, 17ps+ chromosome karyotype, but it could not find the microdeletion of 17p13.3. Fluorescence in situ hybridization(FISH) studies confirmed a terminal deletion in the patient using the LIS1 gene probe which mapped to 17p13.3. Further it was also found the satellite on 17p13(17ps) in the patient who was rare associated with MDS. These findings suggest that FISH analysis may be useful method to detect microdeletion of LIS1 gene as 17-specific probe in the investigation of MDS patients.",

author = "Y. Obara and N. Koseki and J. Fujiwara and M. Kikuchi and T. Miura and T. Funato and Mitsuo Kaku",

year = "2001",

month = jan,

day = "1",

language = "English",

volume = "49",

pages = "189--192",

journal = "Rinsho byori. The Japanese journal of clinical pathology",

issn = "0047-1860",

publisher = "Nihon Rinsho Byori Gakkai",

number = "2",

}

TY - JOUR

T1 - A case of Miller-Dieker syndrome associated with satellite on chromosome 17p

AU - Obara, Y.

AU - Koseki, N.

AU - Fujiwara, J.

AU - Kikuchi, M.

AU - Miura, T.

AU - Funato, T.

AU - Kaku, Mitsuo

PY - 2001/1/1

Y1 - 2001/1/1

N2 - In this report, we describe a one-year-old girl of the Miller-Dieker syndrome(MDS) with lissencephaly, seizures, microcephaly and mental disorders. Cytogenetic studies of this patient confirmed the presence of a 46,XX, 17ps+ chromosome karyotype, but it could not find the microdeletion of 17p13.3. Fluorescence in situ hybridization(FISH) studies confirmed a terminal deletion in the patient using the LIS1 gene probe which mapped to 17p13.3. Further it was also found the satellite on 17p13(17ps) in the patient who was rare associated with MDS. These findings suggest that FISH analysis may be useful method to detect microdeletion of LIS1 gene as 17-specific probe in the investigation of MDS patients.

AB - In this report, we describe a one-year-old girl of the Miller-Dieker syndrome(MDS) with lissencephaly, seizures, microcephaly and mental disorders. Cytogenetic studies of this patient confirmed the presence of a 46,XX, 17ps+ chromosome karyotype, but it could not find the microdeletion of 17p13.3. Fluorescence in situ hybridization(FISH) studies confirmed a terminal deletion in the patient using the LIS1 gene probe which mapped to 17p13.3. Further it was also found the satellite on 17p13(17ps) in the patient who was rare associated with MDS. These findings suggest that FISH analysis may be useful method to detect microdeletion of LIS1 gene as 17-specific probe in the investigation of MDS patients.

UR - http://www.scopus.com/inward/record.url?scp=0035259931&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0035259931&partnerID=8YFLogxK

M3 - Article

C2 - 11307315

AN - SCOPUS:0035259931

SN - 0047-1860

VL - 49

SP - 189

EP - 192

JO - Rinsho byori. The Japanese journal of clinical pathology

JF - Rinsho byori. The Japanese journal of clinical pathology

IS - 2

ER -

A case of Miller-Dieker syndrome associated with satellite on chromosome 17p

Abstract

ASJC Scopus subject areas

Other files and links

Fingerprint

Cite this