[Partial trisomy 13 due to maternal translocation t(2;13)].
The authors report an observation of partial trisomy 13p13 leads to qter and suggest a clinical map of chromosome 13. Increase of fetal hemoglobin seems to be controlled by region 1 of 13q. Bands q13 q14 and q21 seem to be responsible for inner organ malformations. Lastly, the distal segment q22 leads to qter is responsible for trigonocephaly and limb abnormalities.
D002874:Chromosome Mapping; D002901:Chromosomes, Human, 13-15; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D010375:Pedigree; D014178:Translocation, Genetic; D014314:Trisomy
Trisomie 13 partielle par translocation t(2;13) maternelle.