Molecular Cytogenetic and Clinical Characterization of a Patient With a 5.6-Mb Deletion in 7p15 Including HOXA Cluster
Molecular Cytogenetic and Clinical Characterization of a Patient With a 5.6-Mb Deletion in 7p15 Including HOXA Cluster
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DOI：
10.1002/ajmg.a.33860
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发表时间：
2011-03-11
影响因子：
2
通讯作者：
Yoon, Hye-Kyung
中科院分区：
文献类型：
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作者：
Jun, Kyung Ran;Seo, Eul-Ju;Yoon, Hye-Kyung
在这里，我们描述了一个男孩的临床特征与5.6 Mb的染色体7p15.1-p15.3缺失。他有轻微的面部畸形，手足畸形，尿道下裂，先天性心脏缺陷和多余的乳头。通过阵列比较基因组杂交检测该缺失，并使用从USCS基因组浏览器中选择的BAC通过荧光原位杂交进行验证。在随后的亲本染色体FISH分析中未发现这种缺失。缺失区域包含几个基因，包括HOXA簇上的连续发育基因，其在正常胚胎发育期间调节形态发生方面发挥作用。患者的肢体和泌尿生殖系统特征与手足生殖器综合征中观察到的相似，手足生殖器综合征是由HOXA 13单倍不足引起的，而先天性心脏缺陷可能反映了HOXA 3的缺失。我们假设患者的许多临床特征是由于HOXA簇的组合单倍不足。我们的研究还证明了分子细胞遗传学工具的临床实用性，该工具能够检测基因组中的不平衡。(C)2011 Wiley-Liss，Inc.
Here, we describe the clinical features of a boy with a 5.6-Mb deletion at chromosome 7p15.1-p15.3. He has mild facial anomalies, hand-foot abnormalities, hypospadias, congenital heart defects, and supernumerary nipples. This deletion was detected by array comparative genomic hybridization and verified by fluorescence in situ hybridization using BACs selected from the USCS genome browser. This deletion was not found in subsequent FISH analysis of the parental chromosomes. The deleted region contains several genes, including contiguous developmental genes on the HOXA cluster, which play a role in regulating aspects of morphogenesis during normal embryonic development. The patient's limb and urogenital features were similar to those observed in hand-foot-genital syndrome, which is caused by haploinsufficiency of HOXA13, whereas the congenital heart defect may reflect the deletion of HOXA3. We hypothesized that many clinical features of the patient were due to combined haploinsufficiency of the HOXA cluster. Our study also demonstrates the clinical usefulness of a molecular cytogenetic tool that is capable of detecting imbalances in the genome. (C) 2011 Wiley-Liss, Inc.