Fig. 4.

Fluorescence- in-situ-hybridization (FISH) on metaphase spreads of the patient and his parents’ chromosomes 6. We used the locus-specific Bluegnome probes RP11-758C21 for 6q16.2 (green), targeting deletion Nr 1, and RP11-487 F5 for 6q16.3 (red), targeting deletion nr.2, and the Abbott centromere specific probe cep 6 (aqua) for control. a Patient, b Patient’s father, c Patient’s mother: Both loci are present in correct orientation in the parent’s FISH analysis and proved a de novo origin of the deletions in the patient. Deletions in the patient are in cis position