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Prenatal diagnosis of Apert syndrome.
Prenat Diagn. 1998 Jun; 18(6):621-5.PD

Abstract

Apert syndrome (AS) is clinically characterized by typical facial features and symmetrical syndactyly of the digits. AS is inherited as an autosomal dominant trait. Recently, a fibroblast growth factor receptors 2 (FGFR2) mutation, either C934G or C937G, was identified in exon IIIa. Our report documents an affected mother and son in whom one of the two mutations in AS had occurred sporadically in the mother. The diagnosed of AS was based on associated abnormal physical features and on molecular genetic analysis. A C-to-G transversion at position 937 of the cDNA resulting in a proline-to-arginine substitution at codon 259 was found in the mother. In her second pregnancy, prenatal diagnosis by both restriction analysis and direct sequencing was undertaken and this showed that the female fetus had not inherited the mutation.

Authors+Show Affiliations

Department of Obstetrics and Gynecology, China Medical College Hospital, Taichung, Taiwan, R.O.C.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

9664610

Citation

Chang, C C., et al. "Prenatal Diagnosis of Apert Syndrome." Prenatal Diagnosis, vol. 18, no. 6, 1998, pp. 621-5.
Chang CC, Tsai FJ, Tsai HD, et al. Prenatal diagnosis of Apert syndrome. Prenat Diagn. 1998;18(6):621-5.
Chang, C. C., Tsai, F. J., Tsai, H. D., Tsai, C. H., Hseih, Y. Y., Lee, C. C., Yang, T. C., & Wu, J. Y. (1998). Prenatal diagnosis of Apert syndrome. Prenatal Diagnosis, 18(6), 621-5.
Chang CC, et al. Prenatal Diagnosis of Apert Syndrome. Prenat Diagn. 1998;18(6):621-5. PubMed PMID: 9664610.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Prenatal diagnosis of Apert syndrome. AU - Chang,C C, AU - Tsai,F J, AU - Tsai,H D, AU - Tsai,C H, AU - Hseih,Y Y, AU - Lee,C C, AU - Yang,T C, AU - Wu,J Y, PY - 1998/7/17/pubmed PY - 2000/6/20/medline PY - 1998/7/17/entrez SP - 621 EP - 5 JF - Prenatal diagnosis JO - Prenat Diagn VL - 18 IS - 6 N2 - Apert syndrome (AS) is clinically characterized by typical facial features and symmetrical syndactyly of the digits. AS is inherited as an autosomal dominant trait. Recently, a fibroblast growth factor receptors 2 (FGFR2) mutation, either C934G or C937G, was identified in exon IIIa. Our report documents an affected mother and son in whom one of the two mutations in AS had occurred sporadically in the mother. The diagnosed of AS was based on associated abnormal physical features and on molecular genetic analysis. A C-to-G transversion at position 937 of the cDNA resulting in a proline-to-arginine substitution at codon 259 was found in the mother. In her second pregnancy, prenatal diagnosis by both restriction analysis and direct sequencing was undertaken and this showed that the female fetus had not inherited the mutation. SN - 0197-3851 UR - https://www.unboundmedicine.com/medline/citation/9664610/Prenatal_diagnosis_of_Apert_syndrome_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0197-3851&date=1998&volume=18&issue=6&spage=621 DB - PRIME DP - Unbound Medicine ER -