Oligoarray (105K) CGH analysis of chromosome microdeletions within 10q22.1q24.32

K. S. Reddy, Rebecca Mardach, H. Bass

Research output: Contribution to journalArticle

8 Citations (Scopus)

Abstract

To populate the chromosome 10 genetic landscape with clinical correlations we describe 3 non-overlapping, nearly contiguous deletions within chromosome 10q22.1q24.32. Three cases were studied by oligoarray comparative genomic hybridization (CGH), cytogenetics, and/or fluorescence in situ hybridization. The array CGH showed de novo deletions: arr 10q22.1q22.2(74,115,795-77,077,025) ×1dn, arr 10q22.3q23.2(81,437,039-89,144,374)×1dn and arr 10q23.33q24.32(94,894,780-103,144,781)×1dn. Developmental delay, speech impairment and growth retardation were observed in all 3 patients. Facial palsy and renal dysplasia were the other notable findings. The renal dysplasia was ascribed to the loss of a PAX2 gene in the 10q23.33q24.32 deletion patient (OMIM *167409). The facial palsy was seen in the case with a deletion of 10q22.1q22.2. One of three 10q22.3q23.2 deletions involved low copy repeats. We have described the phenotype specific to the chromosome region involved within 10q22.1-q24.32. The oligoarray analysis improved the clinical management of the patients and enabled counseling for deleted genes.

Original languageEnglish (US)
Pages (from-to)113-120
Number of pages8
JournalCytogenetic and Genome Research
Volume132
Issue number1-2
DOIs
StatePublished - Jan 1 2011
Externally publishedYes

Fingerprint

Comparative Genomic Hybridization
Chromosomes
Facial Paralysis
Genomic Segmental Duplications
Language Development Disorders
Genetic Databases
Kidney
Chromosomes, Human, Pair 10
Chromosome Deletion
Fluorescence In Situ Hybridization
Cytogenetics
Genes
Counseling
Phenotype
Growth

Keywords

  • Micodeletions in 10q22.1q24.32
  • Oligoarray CGH

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)
  • Molecular Biology

Cite this

Oligoarray (105K) CGH analysis of chromosome microdeletions within 10q22.1q24.32. / Reddy, K. S.; Mardach, Rebecca; Bass, H.

In: Cytogenetic and Genome Research, Vol. 132, No. 1-2, 01.01.2011, p. 113-120.

Research output: Contribution to journalArticle

@article{5f8f00ab219a415281bcaa28d1a5c206,
title = "Oligoarray (105K) CGH analysis of chromosome microdeletions within 10q22.1q24.32",
abstract = "To populate the chromosome 10 genetic landscape with clinical correlations we describe 3 non-overlapping, nearly contiguous deletions within chromosome 10q22.1q24.32. Three cases were studied by oligoarray comparative genomic hybridization (CGH), cytogenetics, and/or fluorescence in situ hybridization. The array CGH showed de novo deletions: arr 10q22.1q22.2(74,115,795-77,077,025) ×1dn, arr 10q22.3q23.2(81,437,039-89,144,374)×1dn and arr 10q23.33q24.32(94,894,780-103,144,781)×1dn. Developmental delay, speech impairment and growth retardation were observed in all 3 patients. Facial palsy and renal dysplasia were the other notable findings. The renal dysplasia was ascribed to the loss of a PAX2 gene in the 10q23.33q24.32 deletion patient (OMIM *167409). The facial palsy was seen in the case with a deletion of 10q22.1q22.2. One of three 10q22.3q23.2 deletions involved low copy repeats. We have described the phenotype specific to the chromosome region involved within 10q22.1-q24.32. The oligoarray analysis improved the clinical management of the patients and enabled counseling for deleted genes.",
keywords = "Micodeletions in 10q22.1q24.32, Oligoarray CGH",
author = "Reddy, {K. S.} and Rebecca Mardach and H. Bass",
year = "2011",
month = "1",
day = "1",
doi = "10.1159/000318567",
language = "English (US)",
volume = "132",
pages = "113--120",
journal = "Cytogenetic and Genome Research",
issn = "1424-8581",
publisher = "S. Karger AG",
number = "1-2",

}

TY - JOUR

T1 - Oligoarray (105K) CGH analysis of chromosome microdeletions within 10q22.1q24.32

AU - Reddy, K. S.

AU - Mardach, Rebecca

AU - Bass, H.

PY - 2011/1/1

Y1 - 2011/1/1

N2 - To populate the chromosome 10 genetic landscape with clinical correlations we describe 3 non-overlapping, nearly contiguous deletions within chromosome 10q22.1q24.32. Three cases were studied by oligoarray comparative genomic hybridization (CGH), cytogenetics, and/or fluorescence in situ hybridization. The array CGH showed de novo deletions: arr 10q22.1q22.2(74,115,795-77,077,025) ×1dn, arr 10q22.3q23.2(81,437,039-89,144,374)×1dn and arr 10q23.33q24.32(94,894,780-103,144,781)×1dn. Developmental delay, speech impairment and growth retardation were observed in all 3 patients. Facial palsy and renal dysplasia were the other notable findings. The renal dysplasia was ascribed to the loss of a PAX2 gene in the 10q23.33q24.32 deletion patient (OMIM *167409). The facial palsy was seen in the case with a deletion of 10q22.1q22.2. One of three 10q22.3q23.2 deletions involved low copy repeats. We have described the phenotype specific to the chromosome region involved within 10q22.1-q24.32. The oligoarray analysis improved the clinical management of the patients and enabled counseling for deleted genes.

AB - To populate the chromosome 10 genetic landscape with clinical correlations we describe 3 non-overlapping, nearly contiguous deletions within chromosome 10q22.1q24.32. Three cases were studied by oligoarray comparative genomic hybridization (CGH), cytogenetics, and/or fluorescence in situ hybridization. The array CGH showed de novo deletions: arr 10q22.1q22.2(74,115,795-77,077,025) ×1dn, arr 10q22.3q23.2(81,437,039-89,144,374)×1dn and arr 10q23.33q24.32(94,894,780-103,144,781)×1dn. Developmental delay, speech impairment and growth retardation were observed in all 3 patients. Facial palsy and renal dysplasia were the other notable findings. The renal dysplasia was ascribed to the loss of a PAX2 gene in the 10q23.33q24.32 deletion patient (OMIM *167409). The facial palsy was seen in the case with a deletion of 10q22.1q22.2. One of three 10q22.3q23.2 deletions involved low copy repeats. We have described the phenotype specific to the chromosome region involved within 10q22.1-q24.32. The oligoarray analysis improved the clinical management of the patients and enabled counseling for deleted genes.

KW - Micodeletions in 10q22.1q24.32

KW - Oligoarray CGH

UR - http://www.scopus.com/inward/record.url?scp=78149359592&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=78149359592&partnerID=8YFLogxK

U2 - 10.1159/000318567

DO - 10.1159/000318567

M3 - Article

C2 - 20714122

AN - SCOPUS:78149359592

VL - 132

SP - 113

EP - 120

JO - Cytogenetic and Genome Research

JF - Cytogenetic and Genome Research

SN - 1424-8581

IS - 1-2

ER -