Clinical and molecular characterization of individuals with recurrent genomic disorder at 10q22.3q23.2

被引:22
作者
Alliman, S. [1 ]
Coppinger, J. [1 ]
Marcadier, J. [2 ]
Thiese, H. [3 ]
Brock, P. [4 ]
Shafer, S. [5 ]
Weaver, C. [5 ]
Asamoah, A. [4 ]
Leppig, K. [3 ]
Dyack, S. [2 ,6 ]
Morash, B. [7 ]
Schultz, R. [1 ]
Torchia, B. S. [1 ]
Lamb, A. N. [1 ]
Bejjani, B. A. [1 ]
机构
[1] Signature Genom, Spokane, WA 99207 USA
[2] IWK Hlth Ctr, Maritime Med Genet Serv, Halifax, NS, Canada
[3] Grp Hlth Cooperat Puget Sound, Genet Serv, Seattle, WA USA
[4] Univ Louisville, Weisskopf Child Evaluat Ctr, Louisville, KY 40292 USA
[5] Univ Illinois, Coll Med, Carle Clin, Urbana, IL 61801 USA
[6] Dalhousie Univ, Dept Pediat, Halifax, NS, Canada
[7] IWK Hlth Ctr, Dept Pathol & Lab Med, Halifax, NS, Canada
关键词
10q22.3q23.2; aCGH; BMPR1A; deletion; juvenile polyposis syndrome; HEMOGLOBIN-H DISEASE; BETA-THALASSEMIA; ALPHA-THALASSEMIA; PREVALENCE; MUTATIONS; PROVINCE; GUANGXI; MALARIA; ORIGIN; CHINA;
D O I
10.1111/j.1399-0004.2010.01373.x
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
The identification of genomic imbalances in young patients can affect medical management by allowing early intervention for developmental delay and by identifying patients at risk for unexpected medical complications. Using a 105K-feature oligonucleotide array, we identified a 7.25 Mb deletion at 10q22.3q23.2 in six unrelated patients. Deletions of this region have been described in individuals with cognitive and behavioral abnormalities, including autistic features, and may represent a recurring genetic syndrome. All four patients in this study for whom clinical information was available had mild dysmorphic features and three had developmental delay. Of note is the emerging clinical phenotype in these individuals with similar dysmorphic features such as macrocephaly, hypertelorism, and arachnodactyly, and neurodevelopmental delay that includes failure to thrive, hypotonia, and feeding difficulties in the neonatal period, and receptive and expressive language delay with global neurodevelopmental delay after the neonatal period. However, there is no pattern of abnormalities, craniofacial, behavioral, or otherwise, that would have aroused clinical suspicion of a specific syndrome. Finally, the patients' deletions encompass BMPR1A but not PTEN, and these patients may be at risk for colon cancer and should be referred for appropriate prophylactic care and surveillance. Of the two patients in this study who had colonoscopy following the array results, neither had polyps. Therefore, the magnitude of the increased risk for colon cancer is currently unknown.
引用
收藏
页码:162 / 168
页数:7
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