Stankiewicz P, Parka S S, Holder S E, Waters C S, Palmer R W, Berend S A, Shaffer L G, Potocki L, Lupski J R
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston TX 77030-3498, USA.
Clin Genet. 2001 Nov;60(5):336-44. doi: 10.1034/j.1399-0004.2001.600503.x.
We report a 5-year-old boy with a small de novo marker chromosome derived from the proximal short arm of chromosome 17. His clinical features include hypotonia, global developmental delay, oval face with large nose and prominent ears, and ligamentous laxity of the fingers. Magnetic resonance imaging of the brain demonstrated mildly delayed myelination. G-band chromosome analysis revealed mosaicism for a small marker chromosome in 85% of the peripheral blood cells analyzed. Fluorescence in situ hybridization and microsatellite polymorphism studies showed that the der(17) was of maternal origin and included genetic material from the 17p10-p12 region, but did not contain the PMP22 gene. One breakpoint mapped within the centromere and the second breakpoint mapped adjacent to the Charcot-Marie-Tooth disease type 1A proximal low-copy repeat (CMT1A-REP). We compare the clinical characteristics of our patient with those previously reported to have a duplication involving the proximal short arm region of chromosome 17 to further delineate the phenotype of trisomy 17pl0-p12.
我们报告了一名5岁男孩，其携带一条源自17号染色体近端短臂的新发小标记染色体。他的临床特征包括肌张力减退、全面发育迟缓、椭圆形脸伴大鼻子和招风耳，以及手指韧带松弛。脑部磁共振成像显示髓鞘形成轻度延迟。G带染色体分析显示，在分析的85%外周血细胞中存在小标记染色体的嵌合体。荧光原位杂交和微卫星多态性研究表明，衍生的17号染色体（der(17)）源自母亲，包含来自17p10 - p12区域的遗传物质，但不包含PMP22基因。一个断点定位于着丝粒内，第二个断点定位于与1型遗传性运动感觉神经病A型近端低拷贝重复序列（CMT1A - REP）相邻处。我们将该患者的临床特征与先前报道的涉及17号染色体近端短臂区域重复的患者的临床特征进行比较，以进一步明确17p10 - p12三体的表型。
