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Fig. 3 | Molecular Cytogenetics

Fig. 3

From: A 18p11.23-p11.31 microduplication in a boy with psychomotor delay, cerebellar vermis hypoplasia, chorioretinal coloboma, deafness and GH deficiency

Fig. 3

18p11.31-p11.23 duplication. a Pedigree of the family. The arrow indicates the proband. dup = duplication, wt = absence of the duplication. b Graphic representation of part of 18p11.23-p11.31 (corresponding to the region included in red box depicted in the chromosome 18 ideogram) with the genes included in this region. The duplication detected in our patient at 18p11.31-p11.23 18p11.23-p11.31 (6,813,085 × 2, 6,825,044–7,157,962 × 3, 7,193,872 × 2) -ranging from 332,9 to 380,7 Kb is represented by a green rectangle above the boxed region. Genomic positions refer to the Human Genome February 2009 assembly (GRCh37/hg19). c Schematic representation of the microduplications (smaller than 2.7 Mb) in this region reported in the DECIPHER and ISCA database. The ID of each patient is reported. The clinical features of the patients are reported in parentheses below the corresponding duplication as described in Decipher [10] and ClinGen [11]

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Molecular Cytogenetics

ISSN: 1755-8166