13q33-q34微缺失是罕见的染色体畸变,与发育障碍的高风险相关,面部畸形,心脏缺陷和其他器官畸形。有必要收集和报告这种罕见的染色体突变的证据,以改善这种罕见疾病的预后。
我们报告一名患者在13q33.1-34区域有11.56Mb微缺失,其中包含大约30个OMIM基因。除了常见的临床表现,如面部畸形,发育迟缓,智力残疾,癫痫,先天性心脏病,她还患有肛门生殖器距离缩小,血尿和左肾发育不全。大多数相关病例以面部畸形和心脏缺陷为特征,但是关于肾脏畸形的报道很少,尤其是肾发育不全伴血尿。
我们报告了一名患者的肛门生殖器距离缩短,血尿和左肾发育不全。通过SNP阵列分析发现了从13q33.1到13q34的从头11.56Mb缺失(Chr13:103542220-115,106,996)。这可能是首次报道血尿和肾发育不全为13q33-q34缺失综合征的症状,心脏缺陷和泌尿生殖/肛门直肠异常可能是由染色体带13q33.1-q34中的共同或重叠缺失区域引起的,并且可能具有共同的分子机制。
13q33-q34 microdeletions are rare chromosomal aberrations associated with a high risk of developmental disability, facial dysmorphism, cardiac defects and other malformation of organs. It is necessary to collect and report evidence of this rare chromosome mutation to improve the prognosis of this rare disease.
We report a patient harboring an 11.56 Mb microdeletion at 13q33.1-34 region, which contains about 30 OMIM genes. Besides the common clinical manifestations such as facial dysmorphism, developmental delay, intellectual disability, epilepsy, and congenital heart disease, she also suffered from a reduced anogenital distance, hematuria and left renal hypoplasia. Most related cases were characterized by facial deformity and heart defects, but there were few reports on renal malformation, especially regarding renal hypoplasia with hematuria.
We have reported a patient suffering from a reduced anogenital distance, hematuria and left renal hypoplasia. A de novo 11.56 Mb deletion ranging from 13q33.1 to 13q34 (Chr13:103542220-115,106,996) was found by SNP-array analysis. It might be the first time for hematuria and renal hypoplasia to be reported as symptoms of 13q33-q34 deletion syndrome Neurodevelopmental disability, heart defects and urogenital/anorectal anomalies may be resulted from common or overlapping regions of deletion in chromosome bands 13q33.1-q34 and may share a common molecular mechanism.