Fontes, Marshall I. B.
Santos, Ana P.
Molck, Miriam C.
Nascimento, Diogo L. L.
Andrade, Ana K. M.
Krepischi, Ana C. V.
Monlleo, Isabella L.
Gil-da-Silva-Lopes, Vera Lucia
Total Authors: 11
 Univ Estadual Campinas, Fac Med Sci, Dept Med Genet, BR-13083887 Campinas, SP - Brazil
 State Univ Hlth Sci Alagoas, Med Genet Sect, Maceio, Alagoas - Brazil
 Fed Univ Alagoas UFAL, Univ Hosp, Fac Med, Clin Genet Serv, Maceio, Alagoas - Brazil
 Univ Sao Paulo, Biosci Inst, Dept Genet & Evolutionary Biol, Sao Paulo, SP - Brazil
 Univ Estadual Campinas, Fac Med Sci, Dept Clin Med, BR-13083887 Campinas, SP - Brazil
Total Affiliations: 5
AMERICAN JOURNAL OF MEDICAL GENETICS PART A;
Web of Science Citations:
This article reports a patient with a de novo similar to 9.32 Mb duplication at 16p13.3 and a similar to 71 Kb deletion at 22q13.33. The patient was followed from 1 month old to 3 years and 8 months of age and presented typical features of the 16p13.3 duplication syndrome. In addition, the patient presents a portal cavernoma, an alteration rarely reported in this condition. Renal agenesis was detected as additional developmental defect. After genomic array and FISH analysis, the karyotype was 46, XX, ins(22; 16)(q13; p13.2p13.3). ish ins(22; 16)(RP11-35P16\_,RP11-27M24\_). arr16p13.2p13.3 (85,880-9,413,353) x3 dn arr22q13.33 (51,140,789-51,197,838) x 1 dn. The authors provide a comprehensive review of the literature. This approach shed light on the genotype-phenotype correlation. (c) 2015 Wiley Periodicals, Inc. (AU)