@entity1422 is an @entity74 caused by mutations in the genes encoding platelet @entity1427 or @entity1428 . Both genes map to chromosome 17q21 and polymorphisms within this chromosomal region have been identified. In the current study, prenatal diagnosis was performed for a family that already had one affected @entity1 , @entity1 1, who had a compound heterozygous mutation in @entity1427 . At the time of prenatal diagnosis, the maternal @entity1427 mutation had been identified but the paternal @entity1427 mutation was unknown. By sequence analysis, the fetus was identified as a carrier of the mother's mutation. To determine the probability of the fetus inheriting the father's mutation, haplotype analysis of DNA samples from the fetus, mother, father and affected @entity1 were performed using polymorphic markers on chromosome 17q12-q21. These markers included polymorphisms within the @entity21126 gene ( @entity32226 ), the @entity0 gene ( @entity5345 ), @entity1427 , @entity1428 , and an anonymous marker D17S579. Heterozygosity within the @entity32226 , @entity5345 and @entity1428 polymorphic markers predicted that the fetus carried the father's normal allele. Based on genetic linkage studies, no recombination was identified with any of the informative markers, and from the map distance between @entity1427 and @entity5345 the accuracy of diagnosis was predicted to be >98%. The father's mutation was subsequently identified and direct sequence analysis of fetal DNA confirmed that the fetus did not inherit the fathers' mutant allele.

Prenatal diagnosis of @entity1422 using the polymorphic markers XXXX and @entity32226 on chromosome 17.

@entity1 :: ('9606', 'Species') :: ['patient', 'child'] @entity21126 :: ('7067', 'Gene') :: ['thyroid hormone receptor alpha1'] @entity0 :: ('MESH:D001943', 'Disease') :: ['breast cancer'] @entity5345 :: ('672', 'Gene') :: ['BRCA1'] @entity1428 :: ('3690', 'Gene') :: ['GPIIIa'] @entity74 :: ('MESH:D030342', 'Disease') :: ['autosomal recessive bleeding disorder'] @entity1427 :: ('3674', 'Gene') :: ['GPIIb'] @entity1422 :: ('MESH:D013915', 'Disease') :: ['Glanzmann thrombasthenia'] @entity32226 :: ('9572', 'Gene') :: ['THRA1']
@entity5345 :: (672,Gene) :: ['BRCA1']
