EARLY PRENATAL DIAGNOSIS OF FANCONI ANAEMIA IN A TWIN PREGNANCY, USING DNA ANALYSIS

T mutation in the FAC gene. Prenatal DNA analysis showed that both fetuses were heterozygous for different mutations in the FAC gene. Both fetuses had normal male karyotypes. At 36 weeks the twins were born. They did not show congenital anomalies. -->
ISSN: 1097-0223
0197-3851
DOI: 10.1002/(sici)1097-0223(199604)16:4<345::aid-pd852>3.0.co;2-9
Přístupová URL adresa: https://explore.openaire.eu/search/publication?articleId=doi_________::3c7504a487dd94a9bb1937eb6e9c0873
https://doi.org/10.1002/(sici)1097-0223(199604)16:4<345::aid-pd852>3.0.co;2-9
Rights: CLOSED
Přírůstkové číslo: edsair.doi...........3c7504a487dd94a9bb1937eb6e9c0873
Autor: P. A. In 'T Veld, K. Madan, A. R. Van Der Horst, Nieuwint Aw, L. P. Ten Kate, Fré Arwert, J.M.G. van Vugt, G. Pals, J.R. Lo Ten Foe, M. L. Kwee
Rok vydání: 1996
Předmět:
Zdroj: Prenatal Diagnosis. 16:345-348
ISSN: 1097-0223
0197-3851
DOI: 10.1002/(sici)1097-0223(199604)16:4<345::aid-pd852>3.0.co;2-9
Popis: We present a case of prenatal diagnosis of Fanconi anaemia (FA) in a pair of twins at 14 weeks of gestation. The parents had previously had two children: a healthy boy and a boy with FA belonging to complementation group C (FAC). The FA patient is a compound heterozygote, carrying a 322delG and a IVS4+4A-->T mutation in the FAC gene. Prenatal DNA analysis showed that both fetuses were heterozygous for different mutations in the FAC gene. Both fetuses had normal male karyotypes. At 36 weeks the twins were born. They did not show congenital anomalies.
Databáze: OpenAIRE
Externí odkaz: