Hands of subjects with the 1q deletion. Small hands with

Download scientific diagram | Hands of subjects with the 1q deletion. Small hands with distinctive brachydactyly, single transverse palm creases and fifth-finger clinodactyly are evident in Case 2 (A) and Case 3 (B). In contrast, the hands of Case 5 appear normal apart from mild hyperlaxity (C) from publication: Journal of Translational Genetics and Genomics Assigning single clinical features to their disease-locus in large deletions: the example of chromosome 1q23-25 deletion syndrome | Aim: Assigning a disease-locus within the shortest regions of overlap (SRO) shared by deleted/duplicated subjects presenting this disease is a robust mapping approach, although the presence of different malformation traits and their attendance only in a part of the affected | Microcephaly, Syndrome and Genotype-Phenotype | ResearchGate, the professional network for scientists.

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Assigning single clinical features to their disease-locus in large

PDF) Journal of Translational Genetics and Genomics Assigning single clinical features to their disease-locus in large deletions: the example of chromosome 1q23-25 deletion syndrome

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