OBJECTIVE: To analyze the frequency of del22q11.2 in non-syndromic CHDs using classical cytogenetics and Fluorescence In Situ Hybridization (FISH) technique in Indian population. METHODS: 105 prospective cases which included 6 families with isolated, non-syndromic cardiac defects were analyzed clinically by a cardiologist and a geneticist. The cases were then subjected to karyotypic (classical cytogenetics) as well as FISH analysis. The efficacy of FISH technique was compared with inference drawn from classical cytogenetics. RESULTS: Karyotypic analysis of all the 105 patients revealed a normal chromosomal complement. Microdeletion 22q11.2 was observed in six patients (5.71%) by FISH studies. FISH studies were also performed on the parents of these six patients who revealed a normal chromosome 22. No correlation was found between clinical features (mild or unspecific) with 22q11.2 microdeletion. CONCLUSION: The testing for microdeletion 22q11.2 in isolated non-syndromic patients using FISH technique is mandatory even when mild/unspecific extracardiac abnormalities are seen in the patients.
OBJECTIVE: To analyze the frequency of del22q11.2 in non-syndromic CHDs using classical cytogenetics and Fluorescence In Situ Hybridization (FISH) technique in Indian population. METHODS: 105 prospective cases which included 6 families with isolated, non-syndromic cardiac defects were analyzed clinically by a cardiologist and a geneticist. The cases were then subjected to karyotypic (classical cytogenetics) as well as FISH analysis. The efficacy of FISH technique was compared with inference drawn from classical cytogenetics. RESULTS: Karyotypic analysis of all the 105 patients revealed a normal chromosomal complement. Microdeletion 22q11.2 was observed in six patients (5.71%) by FISH studies. FISH studies were also performed on the parents of these six patients who revealed a normal chromosome 22. No correlation was found between clinical features (mild or unspecific) with 22q11.2 microdeletion. CONCLUSION: The testing for microdeletion 22q11.2 in isolated non-syndromicpatients using FISH technique is mandatory even when mild/unspecific extracardiac abnormalities are seen in the patients.
Authors: S Fokstuen; U Arbenz; S Artan; F Dutly; U Bauersfeld; L Brecevic; M Fasnacht; B Röthlisberger; A Schinzel Journal: Clin Genet Date: 1998-01 Impact factor: 4.438
Authors: F Amati; A Mari; M C Digilio; R Mingarelli; B Marino; A Giannotti; G Novelli; B Dallapiccola Journal: Hum Genet Date: 1995-05 Impact factor: 4.132
Authors: A K Ryan; J A Goodship; D I Wilson; N Philip; A Levy; H Seidel; S Schuffenhauer; H Oechsler; B Belohradsky; M Prieur; A Aurias; F L Raymond; J Clayton-Smith; E Hatchwell; C McKeown; F A Beemer; B Dallapiccola; G Novelli; J A Hurst; J Ignatius; A J Green; R M Winter; L Brueton; K Brøndum-Nielsen; P J Scambler Journal: J Med Genet Date: 1997-10 Impact factor: 6.318
Authors: Anna Wozniak; Danuta Wolnik-Brzozowska; Marzena Wisniewska; Renata Glazar; Anna Materna-Kiryluk; Tomasz Moszura; Magdalena Badura-Stronka; Joanna Skolozdrzy; Maciej R Krawczynski; Joanna Zeyland; Waldemar Bobkowski; Ryszard Slomski; Anna Latos-Bielenska; Aldona Siwinska Journal: BMC Pediatr Date: 2010-12-06 Impact factor: 2.125