Trisomy 20p from maternal translocation and anencephaly. Case report and genetic review.
This paper concerns the case of an anencephalus male fetus with partial trisomy 20p product of a maternal translocation 46,XX, t(15;20) (p11.2;p12), ascertained by prenatal diagnosis. A cytogenetic review of previous cases is presented. Several hypotheses are discussed in order to explain the recurrent abortions of the mother and the aetiology of anencephaly in this last pregnancy.
Zumel
R M
RM
Sección de Genética, Hospital La Paz, Madrid, Spain.
Darnaude
M T
MT
Delicado
A
A
Diaz de Bustamante
A
A
de Torres
M L
ML
López Pajares
I
I
D000026:Abortion, Habitual / Q000235:genetics; D000757:Anencephaly / Q000175:diagnosis / Q000235:genetics*; D002884:Chromosomes, Human, Pair 15; D002890:Chromosomes, Human, Pair 20; D005260:Female; D006801:Humans; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014178:Translocation, Genetic; D014314:Trisomy