FISH analysis of a complex chromosome rearrangement involving nine breakpoints on chromosomes 6, 12, 14 and 16

Mary C. Phelan; Will Blackburn; R. Curtis Rogers; Eric C. Crawford; Nelson R. Cooley; Evelin Schrock; Yi Ning; Thomas Ried

doi:10.1002/(SICI)1097-0223(199811)18:11<1174::AID-PD411>3.0.CO;2-H

FISH analysis of a complex chromosome rearrangement involving nine breakpoints on chromosomes 6, 12, 14 and 16

Mary C. Phelan, Will Blackburn, R. Curtis Rogers, Eric C. Crawford, Nelson R. Cooley, Evelin Schrock, Yi Ning, Thomas Ried

School of Medicine

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

24 Scopus citations

Abstract

We report the prenatal diagnosis of an apparently balanced de novo complex chromosome rearrangement (CCR) which involved nine breakpoints on four different chromosomes. Fluorescence in situ hybridization (FISH) and spectral karyotyping (SKY) were performed as an adjunct to G-banding for characterization of the abnormal chromosomes. The 22-week female fetus showed minor dysmorphic features including dolichocephaly, broad fingernails, tibial bowing, clubfoot, thoracolumbar scoliosis and hypoplastic toenails. Autopsy revealed gall-bladder hypoplasia and an atrial septal defect. Chromosome analysis of fetal tissue confirmed the presence of the complex rearrangement.

Original language	English (US)
Pages (from-to)	1174-1180
Number of pages	7
Journal	Prenatal Diagnosis
Volume	18
Issue number	11
DOIs	https://doi.org/10.1002/(SICI)1097-0223(199811)18:11<1174::AID-PD411>3.0.CO;2-H
State	Published - Nov 1 1998

Keywords

Complex chromosome rearrangement
Fluorescence in situ hybridization (FISH)
Prenatal diagnosis
Spectral karyotyping (SKY)

ASJC Scopus subject areas

Obstetrics and Gynecology
Genetics(clinical)

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10.1002/(SICI)1097-0223(199811)18:11<1174::AID-PD411>3.0.CO;2-H

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title = "FISH analysis of a complex chromosome rearrangement involving nine breakpoints on chromosomes 6, 12, 14 and 16",

abstract = "We report the prenatal diagnosis of an apparently balanced de novo complex chromosome rearrangement (CCR) which involved nine breakpoints on four different chromosomes. Fluorescence in situ hybridization (FISH) and spectral karyotyping (SKY) were performed as an adjunct to G-banding for characterization of the abnormal chromosomes. The 22-week female fetus showed minor dysmorphic features including dolichocephaly, broad fingernails, tibial bowing, clubfoot, thoracolumbar scoliosis and hypoplastic toenails. Autopsy revealed gall-bladder hypoplasia and an atrial septal defect. Chromosome analysis of fetal tissue confirmed the presence of the complex rearrangement.",

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T1 - FISH analysis of a complex chromosome rearrangement involving nine breakpoints on chromosomes 6, 12, 14 and 16

AU - Phelan, Mary C.

AU - Blackburn, Will

AU - Rogers, R. Curtis

AU - Crawford, Eric C.

AU - Cooley, Nelson R.

AU - Schrock, Evelin

AU - Ning, Yi

AU - Ried, Thomas

PY - 1998/11/1

Y1 - 1998/11/1

N2 - We report the prenatal diagnosis of an apparently balanced de novo complex chromosome rearrangement (CCR) which involved nine breakpoints on four different chromosomes. Fluorescence in situ hybridization (FISH) and spectral karyotyping (SKY) were performed as an adjunct to G-banding for characterization of the abnormal chromosomes. The 22-week female fetus showed minor dysmorphic features including dolichocephaly, broad fingernails, tibial bowing, clubfoot, thoracolumbar scoliosis and hypoplastic toenails. Autopsy revealed gall-bladder hypoplasia and an atrial septal defect. Chromosome analysis of fetal tissue confirmed the presence of the complex rearrangement.

AB - We report the prenatal diagnosis of an apparently balanced de novo complex chromosome rearrangement (CCR) which involved nine breakpoints on four different chromosomes. Fluorescence in situ hybridization (FISH) and spectral karyotyping (SKY) were performed as an adjunct to G-banding for characterization of the abnormal chromosomes. The 22-week female fetus showed minor dysmorphic features including dolichocephaly, broad fingernails, tibial bowing, clubfoot, thoracolumbar scoliosis and hypoplastic toenails. Autopsy revealed gall-bladder hypoplasia and an atrial septal defect. Chromosome analysis of fetal tissue confirmed the presence of the complex rearrangement.

KW - Complex chromosome rearrangement

KW - Fluorescence in situ hybridization (FISH)

KW - Prenatal diagnosis

KW - Spectral karyotyping (SKY)

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FISH analysis of a complex chromosome rearrangement involving nine breakpoints on chromosomes 6, 12, 14 and 16

Abstract

Keywords

ASJC Scopus subject areas

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