Isodicentric chromosomes are a frequently appearing abnormality in the human Y chromosome. Making predictions regarding the phenotypic outcomes of a variety of duplications/deletions in the dicentric Y chromosome gene...Isodicentric chromosomes are a frequently appearing abnormality in the human Y chromosome. Making predictions regarding the phenotypic outcomes of a variety of duplications/deletions in the dicentric Y chromosome generally depends on the breakpoint location and also the level of mosaicism (45, X cell lines);in certain instances, these may not be detected and result in variations running between male, abnormal female, or ambiguity in individual genitalia. A referral was received from a urology clinic concerning two patients, one aged 34 and one aged 35, with a request to investigate reasons for infertility: G-banded karyotyping and fluorescence in situ hybridization (FISH) revealed the presence of an isodicentric Y chromosome.展开更多
目的探讨1例全面发育迟滞伴智力障碍患儿的遗传学病因。方法采用染色体G显带核型分析、拷贝数变异测序(copy number variation sequencing,CNV-seq)以及染色体高分辨技术对患儿及其父母进行变异筛查,并明确其亲代来源。结果患儿及其父...目的探讨1例全面发育迟滞伴智力障碍患儿的遗传学病因。方法采用染色体G显带核型分析、拷贝数变异测序(copy number variation sequencing,CNV-seq)以及染色体高分辨技术对患儿及其父母进行变异筛查,并明确其亲代来源。结果患儿及其父亲的染色体核型均为46,XY,del(18)(q21.1q21.3),母亲为46,XX。CNV-seq提示患儿为arr[19]18q21.2-q21.32(chr18:48422190-58039582)×1,即存在约10.58 Mb缺失,涉及TCF4基因,而父母均未发现相同缺失。经染色体高分辨技术发现患儿父亲18号染色体长臂的部分片段(18q21.1q21.3)插入到了5号短臂(5p13.1)。结论染色体G显带核型分析与CNV-seq技术能有效诊断Pitt-Hopkins综合征,染色体高分辨技术有助于明确染色体异常的亲代起源。展开更多
文摘Isodicentric chromosomes are a frequently appearing abnormality in the human Y chromosome. Making predictions regarding the phenotypic outcomes of a variety of duplications/deletions in the dicentric Y chromosome generally depends on the breakpoint location and also the level of mosaicism (45, X cell lines);in certain instances, these may not be detected and result in variations running between male, abnormal female, or ambiguity in individual genitalia. A referral was received from a urology clinic concerning two patients, one aged 34 and one aged 35, with a request to investigate reasons for infertility: G-banded karyotyping and fluorescence in situ hybridization (FISH) revealed the presence of an isodicentric Y chromosome.
文摘目的探讨1例全面发育迟滞伴智力障碍患儿的遗传学病因。方法采用染色体G显带核型分析、拷贝数变异测序(copy number variation sequencing,CNV-seq)以及染色体高分辨技术对患儿及其父母进行变异筛查,并明确其亲代来源。结果患儿及其父亲的染色体核型均为46,XY,del(18)(q21.1q21.3),母亲为46,XX。CNV-seq提示患儿为arr[19]18q21.2-q21.32(chr18:48422190-58039582)×1,即存在约10.58 Mb缺失,涉及TCF4基因,而父母均未发现相同缺失。经染色体高分辨技术发现患儿父亲18号染色体长臂的部分片段(18q21.1q21.3)插入到了5号短臂(5p13.1)。结论染色体G显带核型分析与CNV-seq技术能有效诊断Pitt-Hopkins综合征,染色体高分辨技术有助于明确染色体异常的亲代起源。
