| Autor: |
Sloboda N; Clinic Genetics Department, Children Hospital, CHRU Nancy, Nancy, France., Sorlin A; Clinic Genetics Department, Children Hospital, CHRU Nancy, Nancy, France., Valduga M; Genetics Laboratory, CHRU Nancy, Nancy, France., Beri-Dexheimer M; Genetics Laboratory, CHRU Nancy, Nancy, France., Bilbault C; Infantile Medicine Department (Neuropediatrics), Children Hospital, CHRU Nancy, Nancy, France., Fouyssac F; Infantile Medicine Department (Hematopediatrics), Children Hospital, CHRU Nancy, Nancy, France., Becker A; Genetics Laboratory, CHRU Nancy, Nancy, France., Lambert L; Clinic Genetics Department, Children Hospital, CHRU Nancy, Nancy, France., Bonnet C; Genetics Laboratory, CHRU Nancy, Nancy, France., Leheup B; Clinic Genetics Department, Children Hospital, CHRU Nancy, Nancy, France. |
| Abstrakt: |
Background: We report here two new familial cases of associated del15q11 and del7p22, with the latter underlining the clinical variability of this deletion. Two siblings patients presented a similar familial imbalanced translocation, originating from a balanced maternal translocation, with deletions of 7p22 and of 15q11 [arr[GRCh37] 7p22.3-p22.2(42976-3736851)x1, 15q11.1-q11.2(20172544-24979427)x1]. Methods: We used aCGH array, FISH, and karyotype for studying the phenotype of the two patients. Results: The 7p22 deletion (3.5 Mb) contained 58 genes, including several OMIM genes. Patients 1 and 2 exhibited acquisition delays, morphological particularities, and hypogammaglobulinemia, which was more severe in patient 1. Patient 1 presented also with cerebral vasculitis. Conclusion: We discuss here how the PDGFa, CARD11, LFNG, GPER1, and MAFK genes, included in the deletion 7p22, could be involved in the clinical and biological features of the two patients. |
