Early prenatal diagnosis of Fanconi anaemia in a twin pregnancy, using DNA analysis.
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.
Kwee
M L
ML
Department of Clinical Genetics, University Hospital, Amsterdam, The Netherlands.
Lo Ten Foe
J R
JR
Arwert
F
F
Pals
G
G
Madan
K
K
Nieuwint
A
A
In't Veld
P A
PA
Van der Horst
A R
AR
Van Vugt
J M
JM
Ten Kate
L P
LP
D000328:Adult; D000653:Amniotic Fluid / Q000166:cytology / Q000276:immunology; D001483:Base Sequence; D002869:Chromosome Aberrations; D002894:Chromosomes, Human, Pair 4; D003582:Cytogenetics; D004247:DNA / Q000032:analysis* / Q000235:genetics; D004200:Diseases in Twins / Q000175:diagnosis* / Q000235:genetics; D005199:Fanconi Anemia / Q000175:diagnosis*; D005260:Female; D006579:Heterozygote; D006650:Histocompatibility Testing; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis / Q000379:methods*; D014427:Twins / Q000235:genetics
D004247:DNA