Klinefelter syndrome mosaicism in boys with neurodevelopmental disorders: a cohort study and an extension of the hypothesis
Klinefelter syndrome is a common chromosomal (aneuploidy) disorder associated with an extra X chromosome in males. Regardless of numerous studies dedicated to somatic gonosomal mosaicism, Klinefelter syndrome ... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - March 5, 2022 Category: Molecular Biology Authors: Svetlana G. Vorsanova, Irina A. Demidova, Alexey D. Kolotii, Oksana S. Kurinnaia, Victor S. Kravets, Ilya V. Soloviev, Yuri B. Yurov and Ivan Y. Iourov Tags: Research Source Type: research
Growth retardation and congenital heart disease in a boy with a ring chromosome 6 of maternal origin
Rare chromosomal structural abnormalities, including ring chromosomes, often pose challenges to clinical genetic counselling. (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - March 5, 2022 Category: Molecular Biology Authors: Yanling Dong, Jian Li, Ziye Zeng, Xue Zhang, Mingxin Liang, Hong Yi, Jianyun Luo and Junnan Li Tags: Brief Report Source Type: research
3q27.1 microdeletion causes prenatal and postnatal growth restriction and neurodevelopmental abnormalities
Overlapping microdeletions of chromosome 3q26-3q28 have been reported in eight individuals. The common phenotype observed in these individuals include intrauterine growth restriction, short stature, microcepha... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - March 3, 2022 Category: Molecular Biology Authors: Subit Barua, Elaine M. Pereira, Vaidehi Jobanputra, Kwame Anyane-Yeboa, Brynn Levy and Jun Liao Tags: Case Report Source Type: research
A 6.3 Mb maternally derived microduplication of 20p13p12.2 in a fetus with Brachydactyly type D and related literature review
With the introduction of genetic tests such as chromosomal microarray analysis (CMA) and exome sequencing (ES) into fetal medical practices, genotype –phenotype correlations in intrauterine-onset disorders have... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - February 28, 2022 Category: Molecular Biology Authors: Guangquan Chen, Shiyi Xiong, Gang Zou, Fengyu Wu, Xiaoxing Qu, Salem Alawbathani and Luming Sun Tags: Research Source Type: research
Uniparental disomy is a chromosomic disorder in the first place
Uniparental disomy (UPD) is well-known to be closely intermingled with imprinting disorders. Besides, UPD can lead to a disease by ‘activation’ of a recessive gene mutation or due to incomplete (cryptic) triso... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - February 17, 2022 Category: Molecular Biology Authors: Thomas Liehr Tags: Research Source Type: research
Identification of an SRY-negative 46,XX infertility male with a heterozygous deletion downstream of SOX3 gene
A male individual with a karyotype of 46,XX is very rare. We explored the genetic aetiology of an infertility male with a kayrotype of 46,XX and SRY negative. (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - February 14, 2022 Category: Molecular Biology Authors: Shengfang Qin, Xueyan Wang and Jin Wang Tags: Case Report Source Type: research
Verification of a cryptic t(Y;15) translocation in a male with an apparent 45,X karyotype
A rare disease is that an individual with a non-chimeric karyotype of 45,X develops into a male. We explored the genetic aetiology of an infertile male with an apparent 45,X karyotype, which was subsequently v... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - February 14, 2022 Category: Molecular Biology Authors: Shengfang Qin, Xueyan Wang, Jin Wang, Zhuo Zhang, Ximin Chen, Yan Yin, Mengling Ye and Jesse Li-Ling Tags: Research Source Type: research
ZNF384 rearrangement in acute lymphocytic leukemia with renal involvement as the first manifestation is associated with a poor prognosis: a case report
Novel fusion genes such as ZNF384, have been identified in B-cell precursor acute lymphoblastic leukemia (BCP-ALL) in recent years. Patients harboring ZNF384 rearrangements have a distinctive immunophenotype with... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - February 14, 2022 Category: Molecular Biology Authors: Jinlong Ma, Jiaheng Guan and Baoan Chen Tags: Case Report Source Type: research
Double aneuploidy mosaicism involving chromosomes 18 and 21 in a neonate
Double aneuploidy is common, especially in products of conception, frequently involving a combination of a sex chromosome and an acrocentric chromosome. Double autosomal trisomies are rare with only five cases... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - January 24, 2022 Category: Molecular Biology Authors: Christina Mendiola, Veronica Ortega, Allison Britt, Rafael Fonseca and Gopalrao Velagaleti Tags: Case Report Source Type: research
MEIS2 (15q14) gene deletions in siblings with mild developmental phenotypes and bifid uvula: documentation of mosaicism in an unaffected parent
MEIS2 (Meis homeobox 2) encodes a homeobox protein in the three amino acid loop extension (TALE) family of highly conserved homeodomain-containing transcription regulators important for development. MEIS2 deletio... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - December 20, 2021 Category: Molecular Biology Authors: Bin Zhang, Michel Liu, Chin-To Fong and M. Anwar Iqbal Tags: Case Report Source Type: research
Molecular and phenotypic characteristics of 15q24 microdeletion in pediatric patients with developmental disorders
In this study, we iden... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - December 18, 2021 Category: Molecular Biology Authors: Yuanyuan Zhang, Xiaoliang Liu, Haiming Gao, Wanting Cui, Bijun Zhang and Yanyan Zhao Tags: Research Source Type: research
De novo balanced reciprocal translocation mosaic t(1;3)(q42;q25) detected by prenatal genetic diagnosis: a fetus conceived using preimplantation genetic testing due to a t(12;14)(q22;q13) balanced paternal reciprocal translocation
De novo balanced reciprocal translocations mosaicism in fetus conceived using preimplantation genetic testing from a different balanced translocation carrier parent has been rarely reported. (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - December 4, 2021 Category: Molecular Biology Authors: Shaoqin Zhang, Jianjiang Zhu, Hong Qi, Limei Xu, Lirong Cai and Ran Meng Tags: Research Source Type: research
Comprehensive analysis of early pregnancy loss based on cytogenetic findings from a tertiary referral center
This study aimed to perform a comprehen... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - December 4, 2021 Category: Molecular Biology Authors: Xiaoqing Wu, Linjuan Su, Xiaorui Xie, Deqin He, Xuemei Chen, Meiying Wang, Linshuo Wang, Lin Zheng and Liangpu Xu Tags: Research Source Type: research
The frequent and clinically benign anomalies of chromosomes 7 and 20 in Shwachman-diamond syndrome may be subject to further clonal variations
An isochromosome of the long arm of chromosome 7, i(7)(q10), and an interstitial deletion of the long arm of chromosome 20, del(20)(q), are the most frequent anomalies in the bone marrow of patients with Shwac... (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - November 24, 2021 Category: Molecular Biology Authors: Abdul Waheed Khan, Alyssa Kennedy, Elissa Furutani, Kasiani Myers, Annalisa Frattini, Francesco Acquati, Pamela Roccia, Giovanni Micheloni, Antonella Minelli, Giovanni Porta, Marco Cipolli, Simone Cesaro, Cesare Danesino, Francesco Pasquali, Akiko Shimamu Tags: Research Source Type: research
The genetic analysis of Chinese patients with clonal cytopenias using targeted next-generation sequencing
Clonal hematopoiesis (CH) can be found in various myeloid neoplasms (MN), such as myelodysplastic syndromes (MDS), myelodysplastic syndromes/myeloproliferative neoplasms (MDS/MPN), also in pre-MDS conditions. (Source: Molecular Cytogenetics)
Source: Molecular Cytogenetics - November 18, 2021 Category: Molecular Biology Authors: Lijuan Zhang, YuYe Shi, Yue Chen, Shandong Tao, Wenting Shi, Zhengmei He, Kankan Chen, Chunling Wang and Liang Yu Tags: Research Source Type: research
