elastin and DiGeorge-Syndrome

elastin has been researched along with DiGeorge-Syndrome* in 1 studies

Other Studies

1 other study(ies) available for elastin and DiGeorge-Syndrome

Article	Year
Use of FISH technique in the diagnosis of chromosomal syndromes. Eastern Mediterranean health journal = La revue de sante de la Mediterranee orientale = al-Majallah al-sihhiyah li-sharq al-mutawassit, 1999, Volume: 5, Issue:6 Major chromosome abnormalities are present in 0.65% of all neonates. Fluorescent in situ hybridization (FISH) is useful in diagnosing microdeletion syndromes that would otherwise be difficult to diagnose using standard cytogenetics. In this study, we used FISH analysis in the laboratory diagnosis of 4 patients with Prader-Willi Syndrome [del(15)(q11.2q12)], 4 patients with DiGeorge syndrome [del(22)(q11.2q11.23)] and 4 patients with Williams syndrome [del(7)(q11.23q11.23)]. High-resolution chromosome analysis in all these patients was either normal or inconclusive but all the syndromes were confirmed using FISH. We recommend cytogenetic analysis should always be supplemented with FISH to diagnose all cases suspected of a microdeletion syndrome. Topics: Adolescent; Child, Preschool; Chromosome Deletion; Cytogenetic Analysis; Diagnosis, Differential; DiGeorge Syndrome; Elastin; Humans; In Situ Hybridization, Fluorescence; Infant; Karyotyping; Metaphase; Phenotype; Prader-Willi Syndrome; Sensitivity and Specificity; Williams Syndrome	1999

Article

Year

Use of FISH technique in the diagnosis of chromosomal syndromes.

Eastern Mediterranean health journal = La revue de sante de la Mediterranee orientale = al-Majallah al-sihhiyah li-sharq al-mutawassit, 1999, Volume: 5, Issue:6

Major chromosome abnormalities are present in 0.65% of all neonates. Fluorescent in situ hybridization (FISH) is useful in diagnosing microdeletion syndromes that would otherwise be difficult to diagnose using standard cytogenetics. In this study, we used FISH analysis in the laboratory diagnosis of 4 patients with Prader-Willi Syndrome [del(15)(q11.2q12)], 4 patients with DiGeorge syndrome [del(22)(q11.2q11.23)] and 4 patients with Williams syndrome [del(7)(q11.23q11.23)]. High-resolution chromosome analysis in all these patients was either normal or inconclusive but all the syndromes were confirmed using FISH. We recommend cytogenetic analysis should always be supplemented with FISH to diagnose all cases suspected of a microdeletion syndrome.

Topics: Adolescent; Child, Preschool; Chromosome Deletion; Cytogenetic Analysis; Diagnosis, Differential; DiGeorge Syndrome; Elastin; Humans; In Situ Hybridization, Fluorescence; Infant; Karyotyping; Metaphase; Phenotype; Prader-Willi Syndrome; Sensitivity and Specificity; Williams Syndrome

1999