Cognitive Deficit, Learning Difficulties, Severe Behavioral Abnormalities and Healed Cleft Lip in a Patient with a 1.2-Mb Distal Microduplication at 22q11.2

Molecular Syndromology

R.M. Candido Sandri¹  C. de Campos Legnaro¹  B.F. Gamba¹  L.A. Ribeiro-Bicudo¹  A. Richieri-Costa¹ 

[1] aDivision of Syndromology, Department of Clinical Genetics and Molecular Genetics, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, Brazil

关键词: aCGH;    Cleft lip;    Microduplication 22q11.2;    MLPA;    SMARCB1;    SNRPD3;   

DOI  :  10.1159/000354095

学科分类：基础医学

来源: S Karger AG

【 摘 要 】

The 22q11.2 duplication syndrome has been recently characterized as a new entity with features overlapping the 22q11.2 deletion syndrome. Most 22q11.2 duplications represent reciprocal events of the typical 3-Mb deletions extending between low copy repeat (LCR) 22-A and LCR22-D. It has been suggested that the clinical manifestations observed in patients with 22q11.2 microduplications may range from milder phenotypes to multiple severe defects, and this variability could be responsible for many undetected cases. Here, we report on a patient with a 1.2-Mb microduplication at 22q11.2 spanning LCR22-F and LCR22-H which harbor the SMARCB1 and SNRPD3 genes. The patient presented healed cleft lip, mild facial dysmorphism, cognitive deficit, and delayed language development associated with severe behavioral problems including learning difficulties and aggressive behavior.

【 授权许可】

Unknown