Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report [0.03%]
染色体6q16.1区域微缺失致EPHA7基因异常病例报告
Ryan N Traylor,Zheng Fan,Beth Hudson et al.
Ryan N Traylor et al.
Background: Of the fewer than 100 cases reported within the literature of constitutional deletions involving the long arm of chromosome 6, only five have been characterized using high-resolution microarray analysis. Repor...
Molecular cytogenetic characterisation of a mosaic add(12)(p13.3) with an inv dup(3)(q26.31 --> qter) detected in an autistic boy [0.03%]
分子细胞遗传学表征自闭症男孩的嵌合体衍生染色体add(12)(p13.3)和inv dup(3)(q26.31 --> qter)
Isabel M Carreira,Joana B Melo,Carlos Rodrigues et al.
Isabel M Carreira et al.
Background: Inverted duplications (inv dup) of a terminal chromosome region are a particular subset of rearrangements that often results in partial tetrasomy or partial trisomy when accompanied by a deleted chromosome. As...
Application of molecular cytogenetic techniques to clarify apparently balanced complex chromosomal rearrangements in two patients with an abnormal phenotype: case report [0.03%]
应用分子细胞遗传学技术明确两种异常表型患者的平衡复杂染色体重排的临床报告
Paula Jp de Vree,Marleen Eh Simon,Marieke F van Dooren et al.
Paula Jp de Vree et al.
Background: Complex chromosomal rearrangements (CCR) are rare cytogenetic findings that are difficult to karyotype by conventional cytogenetic analysis partially because of the relative low resolution of this technique. H...
Clinically abnormal case with paternally derived partial trisomy 8p23.3 to 8p12 including maternal isodisomy of 8p23.3: a case report [0.03%]
临床异常病例报告：包含母源性8p23.3等臂单体的父源性8pter到8p12部分三体综合征
Dilek Aktas,Anja Weise,Eda Utine et al.
Dilek Aktas et al.
Background: Because of low copy repeats (LCRs) and common inversion polymorphisms, the human chromosome 8p is prone to a number of recurrent rearrangements. Each of these rearrangements is associated with several phenotyp...
New sequence-based data on the relative DNA contents of chromosomes in the normal male and female human diploid genomes for radiation molecular cytogenetics [0.03%]
新的序列数据基于正常男性和女性二倍体基因组中染色体的相对DNA含量的辐射分子细胞遗传学研究
Mikhail V Repin,Pavel I Golubev,Ludmila A Repina
Mikhail V Repin
Background: The objective of this work is to obtain the correct relative DNA contents of chromosomes in the normal male and female human diploid genomes for the use at FISH analysis of radiation-induced chromosome aberrat...
Automated detection of residual cells after sex-mismatched stem-cell transplantation - evidence for presence of disease-marker negative residual cells [0.03%]
自动化检测性别不符的干细胞移植后的残留细胞-疾病标志物阴性残留细胞存在证据
Jörn Erlecke,Isabell Hartmann,Martin Hoffmann et al.
Jörn Erlecke et al.
Background: A new chimerism analysis based on automated interphase fluorescence in situ hybridization (FISH) evaluation was established to detect residual cells after allogene sex-mismatched bone marrow or blood stem-cell...
Microdeletion syndromes disclose replication timing alterations of genes unrelated to the missing DNA [0.03%]
微缺失综合征显示与丢失的DNA无关的基因复制时间改变
Josepha Yeshaya,Itay Amir,Ayelet Rimon et al.
Josepha Yeshaya et al.
Background: The temporal order of allelic replication is interrelated to the epigenomic profile. A significant epigenetic marker is the asynchronous replication of monoallelically-expressed genes versus the synchronous re...
Identification of subtelomeric genomic imbalances and breakpoint mapping with quantitative PCR in 296 individuals with congenital defects and/or mental retardation [0.03%]
应用实时定量PCR对296例先天缺陷和/或智力低下患者的亚端粒区核型进行分析及断点定位
Bernd Auber,Verena Bruemmer,Barbara Zoll et al.
Bernd Auber et al.
Background: Submicroscopic imbalances in the subtelomeric regions of the chromosomes are considered to play an important role in the aetiology of mental retardation (MR). The aim of the study was to evaluate a quantitativ...
A novel deletion in proximal 22q associated with cardiac septal defects and microcephaly: a case report [0.03%]
关于室间隔缺损和小头畸形的22q近端缺失的新病例报告
Caroline Mackie Ogilvie,Joo Wook Ahn,Kathy Mann et al.
Caroline Mackie Ogilvie et al.
Background: Proximal 22q is rich in low copy repeats (LCRs) which mediate non-allelic homologous recombination and give rise to deletions and duplications of varying size depending on which LCRs are involved. ...
Characterization of a prenatally assessed de novo supernumerary minute ring chromosome 20 in a phenotypically normal male [0.03%]
一例表型正常的男性因产前检测发现一个新发的微小额外20号环染色体的特征描述
Sofia Kitsiou-Tzeli,Emmanouil Manolakos,Magdalini Lagou et al.
Sofia Kitsiou-Tzeli et al.
Published Erratum
Molecular cytogenetics. 2009 Feb 20:2:8. DOI:10.1186/1755-8166-2-8 2009