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首页> 外文期刊>Molecular cytogenetics >Maternal interchromosomal insertional translocation leading to 1q43-q44 deletion and duplication in two siblings
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Maternal interchromosomal insertional translocation leading to 1q43-q44 deletion and duplication in two siblings

机译：孕产妇的同胞形式插入易位导致两个兄弟姐妹1q43-q44删除和重复

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1q43-q44 deletion syndrome is a well-defined chromosomal disorder which is characterized by moderate to severe mental retardation, and variable but characteristic facial features determined by the size of the segment and the number of genes involved. However, patients with 1q43-q44 duplication with a clinical phenotype comparable to that of 1q43-q44 deletion are rarely reported. Moreover, pure 1q43-q44 deletions and duplications derived from balanced insertional translocation within the same family with precisely identified breakpoints have not been reported. The proband is a 6-year-old girl with profound developmental delay, mental retardation, microcephaly, epilepsy, agenesis of the corpus callosum and hearing impairment. Her younger brother is a 3-month-old boy with macrocephaly and mild developmental delay in gross motor functions. G-banding analysis of the subjects at the 400-band level did not reveal any subtle structural changes in their karyotypes. However, single-nucleotide polymorphism (SNP) array analysis showed a deletion and a duplication of approximately 6.0?Mb at 1q43-q44 in the proband and her younger brother, respectively. The Levicare analysis pipeline of whole-genome sequencing (WGS) further demonstrated that a segment of 1q43-q44 was inserted at 14q23.1 in the unaffected mother, which indicated that the mother was a carrier of a 46,XX,ins(14;1)(q23.1;q43q44) insertional translocation. Moreover, Sanger sequencing was used to assist the mapping of the breakpoints and the final validation of those breakpoints. The breakpoint on chromosome 1 disrupted the EFCAB2 gene in the first intron, and the breakpoint on chromosome 14 disrupted the PRKCH gene within the 12th intron. In addition, fluorescence in situ hybridization (FISH) further confirmed that the unaffected older sister of the proband carried the same karyotype as the mother. Here, we describe a rare family exhibiting pure 1q43-q44 deletion and duplication in two siblings caused by a maternal balanced insertional translocation. Our study demonstrates that WGS with a carefully designed analysis pipeline is a powerful tool for identifying cryptic genomic balanced translocations and mapping the breakpoints at the nucleotide level and could be an effective method for explaining the relationship between karyotype and phenotype.
机译：1Q43-Q44缺失综合征是明确定义的染色体紊乱，其特征在于中度至严重的心理延迟，可变但特征面部特征由分段的大小和所涉及的基因的数量决定。然而，患者患有1Q43-Q44的临床表型与1Q43-Q44缺失相当的临床表型进行复制。此外，尚未报告纯1Q43-Q44缺失和从同一家族内的平衡插入易位导出的重复，并尚未报告具有精确识别的断点。概念是一名6岁的女孩，具有深远的发育延迟，精神发育迟滞，微术，癫痫，胼callosum和听力障碍的刺激。她的弟弟是一个3个月大的男孩，具有巨大的畸形术和巨大的运动功能延迟。 400带水平的受试者的G型系数分析没有揭示其核型的任何微妙的结构变化。然而，单核苷酸多态性（SNP）阵列分析分别在证据和她的弟弟中分别在1Q43-Q44中删除和重复约6.0 mB。全基因组测序（WGS）的Levicare分析管道进一步证明了1Q43-Q44的一段，在未受影响的母亲的14Q23.1中插入，这表明母亲是46，XX，INS的载体（14; 1）（Q23.1; Q4344）插入易位。此外，Sanger测序用于协助断裂点的映射和这些断点的最终验证。染色体1的断裂点在第一个内含子中破坏了EFCAB2基因，染色体14的断裂点破坏了第12个内含子内的PRKCH基因。此外，原位杂交（鱼类）的荧光进一步证实了证据的未受影响的姐姐携带与母亲相同的核型。在这里，我们描述了一个罕见的家庭，在母体平衡插入易位引起的两个兄弟姐妹中删除和重复。我们的研究表明，具有精心设计的分析管线的WG是一种强大的工具，用于识别神经基因组平衡易位并在核苷酸水平处映射断裂点，并且可以是解释核型和表型之间关系的有效方法。

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