PMC4974715_01
Cytogenetic, FISH and array-CGH studies. a Proband's QFQ-banded chromosomes 14 and 21; the arrow shows the derivative 21. b FISH with subtelomeric 14q probe of the proband: the der(21) is arrowed. c Father's QFQ-banded partial metaphase with two derivative chromosomes arrowed. d Father's GTG-banded partial metaphase with two derivative chromosomes arrowed. e FISH with subtelomeric 14q probe of the father: hybridization signals are present on the normal 14 and on der(21). f Chromosome 14 view showing the duplication in array-CGH (left) and a schematic representation of supposed NAHR mechanism for translocation formation (right)
13039_2016_265_Fig2_HTML.jpg
PMC4974715_01_13039_2016_265_Fig2_HTML.jpg
Fig2
Proband's metaphases showed three hybridization signals: two at the end of the q arm of both chromosomes 14 and a third signal on the p arm of a chromosome 21, so the child was a carrier of a triple copy of 14q32.1qter region (Fig. 2a, b). Karyotype and FISH analysis of parents showed a half cryptic translocation between chromosome 14 (14q showing satellites) and 21 (p) in the father (Fig. 2c, d, e): 46,XY,t(14;21)(q32.1;p12).ish t(14;21)(DJ820M16-;DJ820M16+).