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Figure 1 | Molecular Cytogenetics

Figure 1

From: Cutis Aplasia as a clinical hallmark for the syndrome associated with 19q13.11 deletion: the possible role for UBA2 gene

Figure 1

Molecular cytogenetic analysis. (A) Array CGH comparative profile for chromosome 19 disclosing the 19q13.12 deletion. (B) Zoom in of the deleted region detected by array CGH. (C) Zoom in of the CNV profile of the deleted region according to the Database of Genomic Variants (DGV). (D) MLPA analysis result of the proband and progenitors (SALSA Probe MLPA – P347-A1) confirming a de novo deletion of the probes corresponding to the deletion observed by array CGH.

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Molecular Cytogenetics

ISSN: 1755-8166