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1.
Indian J Hum Genet ; 2010 Sept; 16(3): 166-168
Artículo en Inglés | IMSEAR | ID: sea-138919

RESUMEN

Birth defects have become the important cause of mortality and morbidity in the perinatal period. Congenital heart disease (CHD) is the most common birth defect which includes the varying forms of cardiac abnormalities and occurs with an incidence of 1 per 100 live births. In most of the cases, CHD is an isolated malformation, but about 33% have associated anomalies. Ambiguous genitalia are one such rare anomaly that is associated with CHD among other genital abnormalities. The possible causes for this association could be pseudohermaphroditism, which in turn, may be due to congenital adrenal hyperplasia. The government of any country should consider providing for its people a free prenatal diagnosis for susceptible disorders.


Asunto(s)
Anomalías Congénitas/epidemiología , Anomalías Congénitas/genética , Trastornos del Desarrollo Sexual/epidemiología , Cardiopatías Congénitas/epidemiología , Cardiopatías Congénitas/genética , Humanos , Recién Nacido , Diagnóstico Prenatal
2.
Indian J Hum Genet ; 2009 May; 15(2): 75-77
Artículo en Inglés | IMSEAR | ID: sea-138875

RESUMEN

We report a rare association of Turner syndrome with both Neurofibromatosis type I and Tuberous Sclerosis. The patient had XOkaryotype with Turners stigmata and also had features of Neurofibromatosis 1 in the form of significant café-au-lait spots and Plexiform neurofibroma along with typical features of Tuberous Sclerosis complex. Pedigree analysis revealed that the elder brother of the proband in the family also suffered from Tuberous Sclerosis without the manifestation of Neurofibromatosis or any other genetic disorders. We hypothesize that these associations could be due to new independent mutations and also increased maternal and paternal age in a pre-disposition of Turner syndrome.


Asunto(s)
Femenino , Humanos , Neurofibromatosis 1/diagnóstico , Neurofibromatosis 1/epidemiología , Neurofibromatosis 1/etiología , Neurofibromatosis 1/genética , Hermanos , Esclerosis Tuberosa/diagnóstico , Esclerosis Tuberosa/epidemiología , Esclerosis Tuberosa/etiología , Esclerosis Tuberosa/genética , Síndrome de Turner/diagnóstico , Síndrome de Turner/epidemiología , Síndrome de Turner/etiología , Síndrome de Turner/genética , Adulto Joven
3.
Indian J Hum Genet ; 2007 Jan; 13(1): 30-32
Artículo en Inglés | IMSEAR | ID: sea-138821

RESUMEN

BACKGROUND: The most common type of congenital heart disease is the cardiac septal defects, which has reported to be caused by a missense mutation (G296S) in exon 3 of the GATA4 gene. AIMS: The present study was undertaken to find out whether GATA4 gene is the prime cause of the septal defects in Mysore population. MATERIALS AND METHODS: GATA4 gene analyses were undertaken on 21 confirmed CHD cases by PCR and DNA sequencing. RESULTS AND CONCLUSION: Analysis of this particular mutation in 21 septal defect patients revealed that none of the patients had the mutation, indicating that this mutation is population specific or septal defect in Mysore population is caused due to mutations in other regions of the GATA4 gene.

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