Descartes Maria, Hain Julie Zenger, Conklin Michael, Franklin Judy, Mikhail Fady M, Lachman Ralph S, Nolet Serge, Messiaen Ludwine M
Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294-0024, USA.
Am J Med Genet A. 2008 Nov 15;146A(22):2937-43. doi: 10.1002/ajmg.a.32550.
Here we report on a patient with an interstitial deletion on the long(q) arm of chromosome 1 who presents with a unique constellation of anomalies including brachydactyly type E, Müllerian agenesis, growth hormone deficiency, as well as other abnormalities. We present the clinical details of this patient's presentation, the skeletal findings, and provide characterization of the deletion at the molecular level. We postulate that these skeletal anomalies are distinctive to 1q deletions involving the 1q24q25 region.
在此，我们报告一名1号染色体长臂（q）存在间质缺失的患者，该患者表现出一系列独特的异常症状，包括E型短指畸形、苗勒管发育不全、生长激素缺乏以及其他异常情况。我们展示了该患者临床表现的详细情况、骨骼检查结果，并在分子水平上对缺失进行了特征描述。我们推测，这些骨骼异常是涉及1q24q25区域的1号染色体q臂缺失所特有的。
