Complex chromosome rearrangement in a child with microcephaly, dysmorphic facial features and mosaicism for a terminal deletion del(18)(q21.32-qter) investigated by FISH and array-CGH: Case report [0.03%]
一项采用FISH和基因芯片微阵列技术分析的复杂染色体重排病例报告：一名小头畸形合并发育障碍儿童伴有18号染色体部分缺失嵌合型杂综合述（案号）
Emmanouil Manolakos,Nadezda Kosyakova,Loreta Thomaidis et al.
Emmanouil Manolakos et al.
We report on a 7 years and 4 months old Greek boy with mild microcephaly and dysmorphic facial features. He was a sociable child with maxillary hypoplasia, epicanthal folds, upslanting palpebral fissures with long eyelashes, and hypertelori...
Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH [0.03%]
11q24.2-q25区域微缺失芯片重排携带者表型特征分析及jakobson综合征关键区的重新定位研究
Christine Tyson,Ying Qiao,Chansonette Harvard et al.
Christine Tyson et al.
Background: Jacobsen syndrome is a rare contiguous gene disorder that results from a terminal deletion of the long arm of chromosome 11. It is typically characterized by intellectual disability, a variety of physical anom...
Rapid and reliable diagnosis of murine myeloid leukemia (ML) by FISH of peripheral blood smear using probe of PU. 1, a candidate ML tumor suppressor [0.03%]
采用外周血涂片FISH法应用PU. 1探针快速准确诊断小鼠髓系白血病（ML）
Reiko Kanda,Satsuki Tsuji,Yasushi Ohmachi et al.
Reiko Kanda et al.
Background: Murine myeloid leukemia (ML) provides a good animal model to study the mechanisms of radiation-induced leukemia in humans. This disease has been cytogenetically characterized by a partial deletion of chromosom...
Maj A Hultén,Suketu D Patel,Maira Tankimanova et al.
Maj A Hultén et al.
Background: Down syndrome, characterized by an extra chromosome 21 is the most common genetic cause for congenital malformations and learning disability. It is well known that the extra chromosome 21 most often originates...
Unusually stable abnormal karyotype in a highly aggressive melanoma negative for telomerase activity [0.03%]
端粒酶阴性的高度恶性的黑色素瘤中异常且稳定的染色体类型罕见
Sarantis Gagos,George Papaioannou,Maria Chiourea et al.
Sarantis Gagos et al.
Malignant melanomas are characterized by increased karyotypic complexity, extended aneuploidy and heteroploidy. We report a melanoma metastasis to the peritoneal cavity with an exceptionally stable, abnormal pseudodiploid karyotype as verif...
Analphoid supernumerary marker chromosome characterized by aCGH and FISH as inv dup(3)(q25.33qter) de novo in a child with dysmorphic features and streaky pigmentation: case report [0.03%]
新的衍生于3号染色体部分缺失重复的额外标志染色体并伴有异常表型：病例报告
Sabita K Murthy,Ashok K Malhotra,Preenu S Jacob et al.
Sabita K Murthy et al.
Background: Small supernumerary marker chromosomes (sSMC) occur in 0.075% of unselected prenatal and in 0.044% of consecutively studied postnatal cases. Individuals with sSMC present with varying phenotype, ranging from n...
Mosaic 22q11.2 microdeletion syndrome: diagnosis and clinical manifestations of two cases [0.03%]
22q11.2微缺失综合征的诊断及两例患者的临床表现
Ashutosh Halder,Manish Jain,Madhulika Kabra et al.
Ashutosh Halder et al.
Chromosome 22q11.2 microdeletion syndrome is due to microdeletion of 22q11.2 region of chromosome 22. It is a common microdeletion syndrome however mosaic cases are very rare and reported only few previous occasions. In this report we descr...
Further delineation of complex chromosomal rearrangements in fertile male using multicolor banding [0.03%]
采用多种颜色带分技术进一步确定繁育雄性中复杂的染色体重排结构
Nilüfer Karadeniz,Kristin Mrasek,Anja Weise
Nilüfer Karadeniz
Background: Complex chromosomal rearrangements (CCRs) are defined as structural chromosomal rearrangements with at least three breakpoints and exchange of genetic material between two or more chromosomes. Complex chromoso...
Mosaicism for r(X) and der(X)del(X)(p11.23)dup(X)(p11.21p11.22) provides insight into the possible mechanism of rearrangement [0.03%]
r(X)和der(X)del(X)(p11.23)dup(X)(p11.21p11.22)的嵌合体为重排机制提供了线索
Oleg A Shchelochkov,M Lance Cooper,Zhishuo Ou et al.
Oleg A Shchelochkov et al.
We report a patient with a unique and complex cytogenetic abnormality involving mosaicism for a small ring X and deleted Xp derivative chromosome with tandem duplication at the break point. The patient presented with failure to thrive, musc...
Cryptic genomic imbalances in patients with de novo or familial apparently balanced translocations and abnormal phenotype [0.03%]
染色体平衡易位患者中的隐秘基因组不平衡状况及其表型异常
Carolina Sismani,Sofia Kitsiou-Tzeli,Marios Ioannides et al.
Carolina Sismani et al.
Background: Carriers of apparently balanced translocations are usually phenotypically normal; however in about 6% of de novo cases, an abnormal phenotype is present. In the current study we investigated 12 patients, six d...