Home > Journals > Indian Journal of Genetics and Molecular Research

Indian Journal of Genetics and Molecular Research

Submit your article Read this Journals View all journals
Full Text (PDF)
Original Article

Congenital Heart Defects and Genetic Syndromes

Preetha Tilak, Consultant, Division of Human Genetics,Department of Anatomy, St.John’sMedical College, Bangalore, Karnataka 560034, India. , Preetha Tilak* , Sonia Dhawan** , Sayee Rajangam***

Author Information

Licence:



Indian Journal of Genetics and Molecular Research 6(2):p 37-45, Jul-Dec 2017. | DOI: http://dx.doi.org/10.21088/ijgmr.2319.4782.6217.1

How Cite This Article:

Timeline

Received : N/A         Accepted : N/A          Published : N/A

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.

 

References

No records found.


About this article

Cite this article

Licence:



Received Accepted Published
N/A N/A N/A
DOI: http://dx.doi.org/10.21088/ijgmr.2319.4782.6217.1

Keywords

Heart Defects; Syndromes; Genetic Counseling. 

Article Level Metrics

Last Updated

Monday 13 July 2026, 05:15:43 (IST)

1046

Accesses

0
310
00

Citations


NA
NA
NA

Download citation


Article Keywords

Keyword Highlighting

Highlight selected keywords in the article text.


Timeline

Received N/A
Accepted N/A
Published N/A

licence




Access this article

Reprint Order Form
Buy this Article
Institutional Subscriptions

Share