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Your search keyword '"C. Desmaze"' showing total 2 results
Start Over Author "C. Desmaze" Journal annales de genetique
2 results on '"C. Desmaze"'

1. Molecular cytogenetic analysis of a series of 23 DiGeorge syndrome patients by fluorescence in situ hybridization

Author

S, Demczuk, C, Desmaze, M, Aikem, M, Prieur, F, Ledeist, M, Sanson, G, Rouleau, G, Thomas, and A, Aurias

Subjects
Chromosome Aberrations, Genetic Markers, Heart Defects, Congenital, Male, Adolescent, Hypocalcemia, Infant, Thymus Gland, Parathyroid Glands, Phenotype, T-Lymphocyte Subsets, Child, Preschool, Face, DiGeorge Syndrome, Humans, Female, Child, Oligonucleotide Probes, In Situ Hybridization, Fluorescence, Sequence Deletion
Abstract

The authors have studied a series of 23 DiGeorge syndrome patients by prometaphase chromosome analysis and/or by FISH with a set of 6 cosmid probes spanning the previously described commonly deleted region. Four patients display a cytogenetically visible interstitial deletion in band 22q11.2, whereas the other 18 patients exhibit a molecular deletion evidenced only by FISH analysis. For 21 of the patients studied, the deletion encompasses the 6 loci tested, while for one, only the most telomeric of these loci is conserved. The last patient does not show any deletion with the probes used.

Published
1994

2. Molecular cytogenetic analysis of a series of 23 DiGeorge syndrome patients by fluorescence in situ hybridization.

Author

Demczuk S, Desmaze C, Aikem M, Prieur M, Ledeist F, Sanson M, Rouleau G, Thomas G, and Aurias A

Subjects
Adolescent, Child, Child, Preschool, DiGeorge Syndrome blood, DiGeorge Syndrome immunology, DiGeorge Syndrome pathology, Face abnormalities, Female, Genetic Markers, Heart Defects, Congenital genetics, Humans, Hypocalcemia genetics, Infant, Male, Oligonucleotide Probes, Parathyroid Glands pathology, Phenotype, T-Lymphocyte Subsets, Thymus Gland pathology, Chromosome Aberrations, DiGeorge Syndrome genetics, In Situ Hybridization, Fluorescence, Sequence Deletion
Abstract

The authors have studied a series of 23 DiGeorge syndrome patients by prometaphase chromosome analysis and/or by FISH with a set of 6 cosmid probes spanning the previously described commonly deleted region. Four patients display a cytogenetically visible interstitial deletion in band 22q11.2, whereas the other 18 patients exhibit a molecular deletion evidenced only by FISH analysis. For 21 of the patients studied, the deletion encompasses the 6 loci tested, while for one, only the most telomeric of these loci is conserved. The last patient does not show any deletion with the probes used.

Published
1994

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