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Fig. 5 | Orphanet Journal of Rare Diseases

Fig. 5

From: 10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France

Fig. 5

Distribution of chromosomal anomaly for the 3 most frequent chromosomes implicated, as well as chromosome 1, as an example of non-acrocentric chromosome. For these graphs, "del dist": distal deletion; "del prox": proximal deletion; "dup dist": distal duplication; "dup prox": proximal duplication on the same chromosome; "dup + del": duplication and deletion (only one chromosome); "dup + ins": proximal duplication (inserted elsewhere); "invpara": paracentric inversion; "invperi": pericentric inversion; "iso": isochromosome; "mar": Marker; "mat": maternal; "mono": monosomy; "pat": paternal;"ploid": triploidy/tetraploidy; "rec": reciprocal translocation; "ring": ring chromosome; "rob": robertsonian translocation; "tri": trisomy; "trip": partial triplication/tetrasomy; "Other": other anomalies. A Chromosome 1, reciprocal translocation was the most frequent chromosomal anomaly, followed by proximal and distal deletions. B Chromosome 15, proximal deletions or duplications were the most frequent chromosomal anomalies. C Chromosome 21, the trisomy of the whole chromosome was the most frequent chromosomal anomaly. D Chromosome 22, proximal deletions or duplications were the most frequent chromosomal anomalies

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