Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping.
Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping.
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DOI：
10.1007/s00439-009-0706-x
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发表时间：
2009-10
期刊：
影响因子：
5.3
通讯作者：
Stankiewicz P
中科院分区：
文献类型：
--
作者：
El-Hattab AW;Smolarek TA;Walker ME;Schorry EK;Immken LL;Patel G;Abbott MA;Lanpher BC;Ou Z;Kang SH;Patel A;Scaglia F;Lupski JR;Cheung SW;Stankiewicz P
我们报告了四个新的亚显微镜下删除15q24表现为发育迟缓，身材矮小，肌张力减退，手指异常，关节松弛，生殖器异常，面部特征的患者。这些临床特征与最近报道的6例15q24微缺失患者相同，支持这是一种可识别的综合征的观点。我们描述了一个约2.6 Mb的微重复的情况下，涉及一个15岁的男性身材矮小，轻度精神发育迟滞，注意缺陷多动障碍，Reverger综合征，关节活动度下降，数字异常，面部特征的最小删除关键区域的一部分。其中一些特征与最近报道的15q24微重复涉及最小缺失关键区域的病例相同。我们还报告了两个兄弟姐妹和他们的母亲与重复相邻和远端的这一地区表现出轻度发育迟缓，肌张力减退，逐渐变细的手指，面部特征，突出的耳朵。利用阵列比较基因组杂交技术定位缺失和重复断裂点，并进一步分析15q24区域的基因组结构。令人惊讶的是，除了先前识别的三个低拷贝重复簇（BP1、BP2和BP3）之外，我们还鉴定了另外两个旁系同源的低拷贝重复簇，其可能通过非等位基因同源重组介导了备选大小的15q24基因组重排的形成。
We report four new patients with a submicroscopic deletion in 15q24 manifesting developmental delay, short stature, hypotonia, digital abnormalities, joint laxity, genital abnormalities, and characteristic facial features. These clinical features are shared with six recently reported patients with a 15q24 microdeletion, supporting the notion that this is a recognizable syndrome. We describe a case of an ~2.6 Mb microduplication involving a portion of the minimal deletion critical region in a 15-year-old male with short stature, mild mental retardation, attention deficit hyperactivity disorder, Asperger syndrome, decreased joint mobility, digital abnormalities, and characteristic facial features. Some of these features are shared with a recently reported case with a 15q24 microduplication involving the minimal deletion critical region. We also report two siblings and their mother with duplication adjacent and distal to this region exhibiting mild developmental delay, hypotonia, tapering fingers, characteristic facial features, and prominent ears. The deletion and duplication breakpoints were mapped by array comparative genomic hybridization and the genomic structure in 15q24 was analyzed further. Surprisingly, in addition to the previously recognized three low-copy repeat clusters (BP1, BP2, and BP3), we identified two other paralogous low-copy repeat clusters that likely mediated the formation of alternative sized 15q24 genomic rearrangements via non-allelic homologous recombination.
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影响因子：
4
作者：
Ben-Shachar S;Lanpher B;German JR;Qasaymeh M;Potocki L;Nagamani SC;Franco LM;Malphrus A;Bottenfield GW;Spence JE;Amato S;Rousseau JA;Moghaddam B;Skinner C;Skinner SA;Bernes S;Armstrong N;Shinawi M;Stankiewicz P;Patel A;Cheung SW;Lupski JR;Beaudet AL;Sahoo T
通讯作者：
Sahoo T
影响因子：
15.9
作者：
Niehues, R;Hasilik, M;Marquardt, T
通讯作者：
Marquardt, T
影响因子：
8.8
作者：
Cheung, SW;Shaw, CA;Beaudet, AL
通讯作者：
Beaudet, AL
DOI：
10.1002/(sici)1096-8628(19991222)87:5
发表时间：
1999-12-22
期刊：
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子：
--
作者：
Han, JY;Kim, KH;Shaffer, LG
通讯作者：
Shaffer, LG
DOI：
10.1186/1755-8417-1-4
发表时间：
2008-11-03
期刊：
PathoGenetics
影响因子：
--
作者：
Gu W;Zhang F;Lupski JR
通讯作者：
Lupski JR