Prenatal Diagnosis of a Fetus with Congenital Heart Defect and Ring Chromosome 14
Figure 2
(a) Karyotype: 46,XY,r(14)(p11.2q32.33). (b) Hybridisation with ToTelVysion Mix 7 probes. Note the loss of signal corresponding to 14qter, maintaining the SpectrumAqua 14q control signal. (c) In situ hybridisation with LSI IGH Dual Color, Break Apart Rearrangement Probe. Note the two hybridisation signals in the normal chromosome 14 (red/green signal). Loss of LSI IGHV Probe (SpectrumGreen) was detected in chromosome r(14).
