Instability of isochromosome 4p in a child with pure trisomy 4p syndrome features and entire 4q-Arm translocation

Pruthvi Pota; Vasiliki Grammatopoulou; Erin Torti; Stephen Braddock; Jacqueline R. Batanian

doi:10.1159/000371606

Instability of isochromosome 4p in a child with pure trisomy 4p syndrome features and entire 4q-Arm translocation

Pruthvi Pota
, Vasiliki Grammatopoulou
, Erin Torti
, Stephen Braddock
, Jacqueline R. Batanian

Medicine - Cardiology Division

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

3 Scopus citations

Abstract

Constitutional chromosome instability so far has mainly been associated with ring formation. In addition, isochromosome formation involving the short arm with translocation of the entire long arm is rarely observed. This type of rearrangement has been reported for chromosomes 4, 5, 7, 9, 10, 12, and 20. Here, we present the third patient having an isochromosome 4p with 4q translocation, but showing for the first time chromosome instability detected by FISH following chromosome microarray analysis.

Original language	English (US)
Pages (from-to)	280-284
Number of pages	5
Journal	Cytogenetic and Genome Research
Volume	144
Issue number	4
DOIs	https://doi.org/10.1159/000371606
State	Published - Apr 24 2014

Bibliographical note

Publisher Copyright:
© 2015 S. Karger AG, Basel.

Keywords

Chromosome instability
Isochromosome 4p
Trisomy 4p syndrome

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10.1159/000371606

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title = "Instability of isochromosome 4p in a child with pure trisomy 4p syndrome features and entire 4q-Arm translocation",

abstract = "Constitutional chromosome instability so far has mainly been associated with ring formation. In addition, isochromosome formation involving the short arm with translocation of the entire long arm is rarely observed. This type of rearrangement has been reported for chromosomes 4, 5, 7, 9, 10, 12, and 20. Here, we present the third patient having an isochromosome 4p with 4q translocation, but showing for the first time chromosome instability detected by FISH following chromosome microarray analysis.",

keywords = "Chromosome instability, Isochromosome 4p, Trisomy 4p syndrome",

author = "Pruthvi Pota and Vasiliki Grammatopoulou and Erin Torti and Stephen Braddock and Batanian, \{Jacqueline R.\}",

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T1 - Instability of isochromosome 4p in a child with pure trisomy 4p syndrome features and entire 4q-Arm translocation

AU - Pota, Pruthvi

AU - Grammatopoulou, Vasiliki

AU - Torti, Erin

AU - Braddock, Stephen

AU - Batanian, Jacqueline R.

PY - 2014/4/24

Y1 - 2014/4/24

N2 - Constitutional chromosome instability so far has mainly been associated with ring formation. In addition, isochromosome formation involving the short arm with translocation of the entire long arm is rarely observed. This type of rearrangement has been reported for chromosomes 4, 5, 7, 9, 10, 12, and 20. Here, we present the third patient having an isochromosome 4p with 4q translocation, but showing for the first time chromosome instability detected by FISH following chromosome microarray analysis.

AB - Constitutional chromosome instability so far has mainly been associated with ring formation. In addition, isochromosome formation involving the short arm with translocation of the entire long arm is rarely observed. This type of rearrangement has been reported for chromosomes 4, 5, 7, 9, 10, 12, and 20. Here, we present the third patient having an isochromosome 4p with 4q translocation, but showing for the first time chromosome instability detected by FISH following chromosome microarray analysis.

KW - Chromosome instability

KW - Isochromosome 4p

KW - Trisomy 4p syndrome

UR - https://www.scopus.com/pages/publications/84928585594

UR - https://www.scopus.com/pages/publications/84928585594#tab=citedBy

U2 - 10.1159/000371606

DO - 10.1159/000371606

M3 - Article

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AN - SCOPUS:84928585594

SN - 1424-8581

VL - 144

SP - 280

EP - 284

JO - Cytogenetic and Genome Research

JF - Cytogenetic and Genome Research

IS - 4

ER -

Instability of isochromosome 4p in a child with pure trisomy 4p syndrome features and entire 4q-Arm translocation

Abstract

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