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Fig. 2 | BMC Medical Genomics

Fig. 2

From: Haploinsufficiency and triploinsensitivity of the same 6p25.1p24.3 region in a family

Fig. 2

Array CGH and FISH analyses of the family. a. Array CGH detected an interstitial deletion within 6p25.1p24.3 in the proband, a mosaic deletion in her mother, and an interstitial duplication of the same region in her brother. b. Chromosomal analysis revealed normal, duplicated and deleted chromosome 6 s in the mother. c. Metaphase FISH showed a duplication signal pattern in a metaphase cell from the mother using two BAC FISH probes RP3-520B18 and RP11-339A7 (arrow indicates the duplication of 6p). d. Interphase FISH demonstrated normal, duplication, and deletion signal patterns of 6p in the mother

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