Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2)

Simone Schuffenhauer, Peter C. Lichtner, +11 authors Thomas Meitinger
Published 1998 in European Journal of Human Genetics

Abstract

DiGeorge syndrome (DGS) is a developmental field defect, characterised by absent/hypoplastic thymus and parathyroid, and conotruncal heart defects, with haploinsufficiency loci at 22q (DGS1) and 10p (DGS2). We performed fluorescence in situ hybridisations (FISH) and polymerase chain reaction (PCR) analyses in 12 patients with 10p deletions, nine of them… (More)

DOI: 10.1038/sj.ejhg.5200183

A Pizzuti, G Novelli, A Ratti
Hum Mol Genet
1997

Siu VM, Li M-D, Teshima
Am J Hum Genet
1996

Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2)

Abstract

Topics

4 Figures and Tables

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Complex rearrangements between chromosomes 6, 10, and 11 with multiple deletions at breakpoints.

Expression and mutation analysis of BRUNOL3, a candidate gene for heart and thymus developmental defects associated with partial monosomy 10p

Clinical description of a neonate carrying the largest reported deletion involving the 10p15.3p13 region

Molecular and clinical characterization of new patient with 1,08 Mb deletion in 10p15.3 region

Genetic and Informatic Analyses Implicate Kif12 as a Candidate Gene within the Mpkd2 Locus That Modulates Renal Cystic Disease Severity in the Cys1cpk Mouse

The Syndrome of Familial Hypoparathyroidism, Sensorineural Deafness and Renal Dysplasia.

Clinical description of a patient carrying the smallest reported deletion involving 10p14 region.

Clinical utility of chromosomal microarray analysis.

Two Cases of Chromosome 22q11.2 Deletion Syndrome Diagnosed in 12-Year-Old Boys with Hypocalcemic Seizures

A patient with apparently reciprocal translocation and cryptic 10p deletion.

References

Report of the second international workshop on human chromosome 10 mapping 1997.

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.

UFD1L, a developmental expressed ubiquination gene, is deleted in CATCH22 syndrome

A common region of 10p deleted in DiGeorge and velocardiofacial syndromes

A comprehensive genetic map of the human genome based on 5,264 microsatellites.

IE: De novo interstitial 2q deletion in a child with features of DiGeorge syndrome

Position effects and genetic disease.

Velo-cardio-facial and partial DiGeorge phenotype in a child with interstitial deletion at 10p13--implications for cytogenetics and molecular biology.

An STS-based map of the human genome.

DiGeorge syndrome and partial monosomy 10p: case report and review.

Slides referencing similar topics

Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2)

Abstract

Topics

4 Figures and Tables

Cited By

Complex rearrangements between chromosomes 6, 10, and 11 with multiple deletions at breakpoints.

Expression and mutation analysis of BRUNOL3, a candidate gene for heart and thymus developmental defects associated with partial monosomy 10p

Clinical description of a neonate carrying the largest reported deletion involving the 10p15.3p13 region

Molecular and clinical characterization of new patient with 1,08 Mb deletion in 10p15.3 region

Genetic and Informatic Analyses Implicate Kif12 as a Candidate Gene within the Mpkd2 Locus That Modulates Renal Cystic Disease Severity in the Cys1cpk Mouse

The Syndrome of Familial Hypoparathyroidism, Sensorineural Deafness and Renal Dysplasia.

Clinical description of a patient carrying the smallest reported deletion involving 10p14 region.

Clinical utility of chromosomal microarray analysis.

Two Cases of Chromosome 22q11.2 Deletion Syndrome Diagnosed in 12-Year-Old Boys with Hypocalcemic Seizures

A patient with apparently reciprocal translocation and cryptic 10p deletion.

References

Report of the second international workshop on human chromosome 10 mapping 1997.

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.

UFD1L, a developmental expressed ubiquination gene, is deleted in CATCH22 syndrome

A common region of 10p deleted in DiGeorge and velocardiofacial syndromes

A comprehensive genetic map of the human genome based on 5,264 microsatellites.

IE: De novo interstitial 2q deletion in a child with features of DiGeorge syndrome

Position effects and genetic disease.

Velo-cardio-facial and partial DiGeorge phenotype in a child with interstitial deletion at 10p13--implications for cytogenetics and molecular biology.

An STS-based map of the human genome.

DiGeorge syndrome and partial monosomy 10p: case report and review.

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