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Fig. 4 | Molecular Cytogenetics

Fig. 4

From: Autism and intellectual disability in a patient with two microdeletions in 6q16: a contiguous gene deletion syndrome?

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

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