A Down syndrome case with a karyotype of 46,XY,rec(21)dup(21q)inv(21)(p11q22) derived from paternal pericentric inversion of chromosome 21.
Ilgin Ruhi
H
H
Tükün
A
A
Karabulut
H
H
Bayazit
P
P
Bökesoy
I
I
D002869:Chromosome Aberrations; D002871:Chromosome Banding; D007446:Chromosome Inversion; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D004314:Down Syndrome / Q000235:genetics* / Q000473:pathology; D005192:Family Health; D005260:Female; D020440:Gene Duplication; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D011995:Recombination, Genetic