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Fig. 2 | Molecular Cytogenetics

Fig. 2

From: A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy – case report and review of the literature

Fig. 2

a Partial G-banded karyotype of normal chromosomes 5 and the sSMC. b Scheme showing the banding pattern of 5p, the result of array CGH in the present patient, FISH probes for the cri-du-chat region employed in our study (5p15.31 (FLJ25076) in green, 5p15.2 (CTNND2) in red), disease-causing genes discussed (orange), the extent of 5p amplification in the present patient (thick dark blue bar) and previously published tetrasomies (inv dups, isochromosomes, an interstitial triplication; thin dark blue bars) and trisomies (terminal and interstitial duplications, unbalanced translocations; thin light blue bars). Uncertain ranges in published patients are hatched. A megabase scale bar is also shown. c FISH examination of normal chromosomes 5 and the sSMC. See (b) for 5p probe colors. The 5q35 (NSD1) probe is in green. The pattern of signals on the sSMC indicates its structure of inv dup of distal 5p

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Molecular Cytogenetics

ISSN: 1755-8166