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Fig. 2 | Molecular Cytogenetics

Fig. 2

From: Maternal uniparental disomy 14 and mosaic trisomy 14 in a Chinese boy with moderate to severe intellectual disability

Fig. 2

Cytogenetic and molecular results. a G-banding karyotype of the patient, showing a trisomy 14 cell detected from 100 metaphase cells. b FISH results of analysis of interphase cells. c, e Chromosomal microarray analysis on blood and hyperpigmented skin samples showed two AOH regions at 14q11.2q22.3 and 14q32.2qter and trisomy 14 mosaicism at about 10-20 % level, respectively. d Chromosomal microarray analysis on normal skin sample only showed two AOH regions at 14q11.2q22.3 and 14q32.2qter

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