Congenital Heart Defects and Genetic Syndromes
Journal Title: Indian Journal of Genetics and Molecular Research - Year 2017, Vol 6, Issue 2
Abstract
Congenital heart defects may be because of genetic and or environmental factors. Genetic could be Mendelian and non-Mendeliandisorders resulting in syndromes. Aim: The paper reports the identified Mendelianand non-mendelian syndromes in patients with congenital heart defects. Material and Method: 65 patients with heart defectswere referred for karyotyping and counseling. The details were recorded in proforma. Percentage analysis was calculated. Results: Genetic syndromes were identified in 11 patients (11/65,16.92%). There were 4 female and 7 male patients. All had normal karyotype: 46,XX or 46,XY. Among them 6 (54.5%) were born to consanguinous parents; out of whom 4 were 1st cousin unions, one each was from uncleniece and distant relation. 7 had Mendelian and 4 had non-Mendelian disorders. The Mendelian were autosomal dominant (AD) or recessive (AR). AD was in one case of Marfan syndrome (male). AR was in the following 6 syndromes: Acrocallosal (male)/ Bixler (female)/ Diastrophic dysplasia (male)/ Ellis-van Crevald (female)/ Fanconi pancytopenia (male)/ Smith-LemliOpitz (male). Among the 4 non-Mendelian; 2 were sporadic: Beckwith Wiedmann (male) and CHARGE association (female) and the other 2 were ?AD (Brachymelia-Renal syndrome (male) and ?AR (Klippel Fell sequence)(female). Conclusion: As per the mode of inheritance, genetic counseling was provided to the family.
Authors and Affiliations
Preetha Tilak
Keywords
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- EP ID EP463065
- DOI 10.21088/ijgmr.2319.4782.6217.1
- Views 89
- Downloads 0
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