XXXX : prenatal diagnosis, molecular analysis and genetic counseling.

@entity1 @entity4007 @entity10534 @entity10537 @entity72071 @entity60831 @entity3886 @entity5806 @entity72070 @entity1514 @entity893 @entity2241
OBJECTIVE: To present the perinatal findings and molecular genetic analysis of two siblings with @entity10534 . MATERIALS, METHODS AND RESULTS: A 33-year-old @entity1 , gravida 3, para 1, was referred for genetic counseling at 18 gestational weeks because of recurrent @entity2241 . Two years previously, she had delivered a 1,316-g dead male baby at 28 gestational weeks with a karyotype of 46,XY, postaxial polydactyly of the hands, @entity1514 , @entity4007 , @entity3886 , shortening of the long bones, @entity893 , and hypoplastic nails. During this pregnancy, prenatal ultrasound at 18 gestational weeks revealed shortening of the long bones (equivalent to 15 weeks), postaxial polydactyly of both hands, @entity1514 , and @entity4007 . The pregnancy was subsequently terminated, and a 236-g female fetus was delivered with a karyotype of 46,XX, postaxial polydactyly of the hands, @entity1514 , @entity4007 , shortening of the long bones, and @entity5806 . The phenotype of each of the two siblings was consistent with @entity10534 . Molecular analysis of the EVC and @entity10537 genes revealed heterozygous mutations in the @entity10537 gene. A heterozygous deletion mutation of a 26-bp deletion of @entity72070 encompassing the junction between intron 7 and exon 8 of the @entity10537 gene was found in the mother and two siblings, and a heterozygous nonsense mutation of @entity72071 , @entity60831 in exon 10 of the @entity10537 gene was found in the father and two siblings. CONCLUSION: Prenatal sonographic identification of @entity4007 in association with shortening of the long bones should alert clinicians to the possibility of @entity10534 and prompt a careful search of hexadactyly of the hands. Molecular analysis of the EVC and @entity10537 genes is helpful in genetic counseling in cases with prenatally detected postaxial polydactyly, @entity1514 , short limbs and @entity4007 .
