A complex chromosome rearrangement, der(6)ins(6)(p21.1q25.3q27)inv(6)(p25.3q27), in a child with cleidocranial dysplasia

Jill K. Northup; Reuben Matalon; Lillian H. Lockhart; Judy C. Hawkins; Gopalrao V.N. Velagaleti

doi:10.1016/j.ejmg.2011.03.011

A complex chromosome rearrangement, der(6)ins(6)(p21.1q25.3q27)inv(6)(p25.3q27), in a child with cleidocranial dysplasia

Jill K. Northup
, Reuben Matalon
, Lillian H. Lockhart
, Judy C. Hawkins
, Gopalrao V.N. Velagaleti

Department of Pathology

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

6 Scopus citations

Abstract

Complex chromosome rearrangements (CCRs) are structural abnormalities involving >2 chromosomes or >3 breakpoints. It has been suggested that the probability of imbalance increases as the number of breakpoints increase. Here we report a 7-month-old, Hispanic girl presenting with cleidocranial dysplasia (CCD) who was found to have a complex chromosome rearrangement of chromosome 6. Fluorescence in situ hybridization studies with bacterial artificial chromosome (BAC) clones showed that the rearrangement involved insertion of 6q into 6p disrupting the " Runt related transcription factor 2 (RUNX2)" gene at chromosome 6p21.1. In addition, a pericentric inversion of chromosome 6 was identified. Despite the complex nature of the rearrangement, no cryptic deletions or duplications could be detected by array comparative genomic hybridization.

Original language	English (US)
Pages (from-to)	e394-e398
Journal	European Journal of Medical Genetics
Volume	54
Issue number	4
DOIs	https://doi.org/10.1016/j.ejmg.2011.03.011
State	Published - Jul 2011

Keywords

ACGH
Cleidocranial dysplasia
FISH
Insertion
Inversion

ASJC Scopus subject areas

Genetics(clinical)
Genetics

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10.1016/j.ejmg.2011.03.011

Cite this

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title = "A complex chromosome rearrangement, der(6)ins(6)(p21.1q25.3q27)inv(6)(p25.3q27), in a child with cleidocranial dysplasia",

abstract = "Complex chromosome rearrangements (CCRs) are structural abnormalities involving >2 chromosomes or >3 breakpoints. It has been suggested that the probability of imbalance increases as the number of breakpoints increase. Here we report a 7-month-old, Hispanic girl presenting with cleidocranial dysplasia (CCD) who was found to have a complex chromosome rearrangement of chromosome 6. Fluorescence in situ hybridization studies with bacterial artificial chromosome (BAC) clones showed that the rearrangement involved insertion of 6q into 6p disrupting the {"} Runt related transcription factor 2 (RUNX2){"} gene at chromosome 6p21.1. In addition, a pericentric inversion of chromosome 6 was identified. Despite the complex nature of the rearrangement, no cryptic deletions or duplications could be detected by array comparative genomic hybridization.",

keywords = "ACGH, Cleidocranial dysplasia, FISH, Insertion, Inversion",

author = "Northup, \{Jill K.\} and Reuben Matalon and Lockhart, \{Lillian H.\} and Hawkins, \{Judy C.\} and Velagaleti, \{Gopalrao V.N.\}",

year = "2011",

month = jul,

doi = "10.1016/j.ejmg.2011.03.011",

language = "English (US)",

volume = "54",

pages = "e394--e398",

journal = "European Journal of Medical Genetics",

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AU - Northup, Jill K.

AU - Matalon, Reuben

AU - Lockhart, Lillian H.

AU - Hawkins, Judy C.

AU - Velagaleti, Gopalrao V.N.

PY - 2011/7

Y1 - 2011/7

N2 - Complex chromosome rearrangements (CCRs) are structural abnormalities involving >2 chromosomes or >3 breakpoints. It has been suggested that the probability of imbalance increases as the number of breakpoints increase. Here we report a 7-month-old, Hispanic girl presenting with cleidocranial dysplasia (CCD) who was found to have a complex chromosome rearrangement of chromosome 6. Fluorescence in situ hybridization studies with bacterial artificial chromosome (BAC) clones showed that the rearrangement involved insertion of 6q into 6p disrupting the " Runt related transcription factor 2 (RUNX2)" gene at chromosome 6p21.1. In addition, a pericentric inversion of chromosome 6 was identified. Despite the complex nature of the rearrangement, no cryptic deletions or duplications could be detected by array comparative genomic hybridization.

AB - Complex chromosome rearrangements (CCRs) are structural abnormalities involving >2 chromosomes or >3 breakpoints. It has been suggested that the probability of imbalance increases as the number of breakpoints increase. Here we report a 7-month-old, Hispanic girl presenting with cleidocranial dysplasia (CCD) who was found to have a complex chromosome rearrangement of chromosome 6. Fluorescence in situ hybridization studies with bacterial artificial chromosome (BAC) clones showed that the rearrangement involved insertion of 6q into 6p disrupting the " Runt related transcription factor 2 (RUNX2)" gene at chromosome 6p21.1. In addition, a pericentric inversion of chromosome 6 was identified. Despite the complex nature of the rearrangement, no cryptic deletions or duplications could be detected by array comparative genomic hybridization.

KW - ACGH

KW - Cleidocranial dysplasia

KW - FISH

KW - Insertion

KW - Inversion

UR - https://www.scopus.com/pages/publications/79960089625

UR - https://www.scopus.com/pages/publications/79960089625#tab=citedBy

U2 - 10.1016/j.ejmg.2011.03.011

DO - 10.1016/j.ejmg.2011.03.011

M3 - Article

C2 - 21466863

AN - SCOPUS:79960089625

SN - 1769-7212

VL - 54

SP - e394-e398

JO - European Journal of Medical Genetics

JF - European Journal of Medical Genetics

IS - 4

ER -

A complex chromosome rearrangement, der(6)ins(6)(p21.1q25.3q27)inv(6)(p25.3q27), in a child with cleidocranial dysplasia

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

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