[Familial balanced chromosome translocation t(12;13) in a family with several deformed stillbirths].
Reported in this paper is a family which was cytogenetically examined for several stillbirths with severe neural tube defects and other malformations. Balanced translocation between chromosomes 12 and 13 [t (12; 13) (q24; q22)] was recorded from five members of that family. Partial trisomy 13 or partial monosomy 13 is discussed as the cause of the malformations. Prenatal cytogenetic diagnosis had been undertaken in two cases.
D000328:Adult; D002869:Chromosome Aberrations; D002901:Chromosomes, Human, 13-15; D002906:Chromosomes, Human, 6-12 and X; D000013:Congenital Abnormalities / Q000235:genetics*; D005260:Female; D005313:Fetal Death / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D014178:Translocation, Genetic
Familiäre balancierte Chromosomentranslokation t(12;13) in einer Familie mit mehreren missgebildeten Totgeburten.