期刊： MOLECULAR CYTOGENETICS, 2022; 15 (1)
Background Rare chromosomal structural abnormalities, including ring chromosomes, often pose challenges to clinical genetic counselling. Results Here,......
期刊： MOLECULAR CYTOGENETICS, 2022; 15 (1)
Background Copy number variants are a substantial source of pathogenic or normal genome variations. Chromosomal imbalances of several megabasepair are......
期刊： MOLECULAR CYTOGENETICS, 2022; 15 (1)
Background Tetrasomy 18p syndrome is a rare chromosomal disorder that is caused by the presence of isochromosome 18p. Most tetrasomy 18p cases are de ......
期刊： MOLECULAR CYTOGENETICS, 2022; 15 (1)
Objective Since 2011, noninvasive prenatal testing (NIPT) has undergone rapid expansion, with both utilization and coverage. However, conclusive data ......
期刊： MOLECULAR CYTOGENETICS, 2022; 15 (1)
Background So called cell-free fetal DNA (cffDNA) in the maternal plasma, which is derived from placenta, is widely used to screen fetal aneuploidies,......
期刊： MOLECULAR CYTOGENETICS, 2022; 15 (1)
Background Complex chromosomal rearrangements (CCRs) are rare chromosomal structural variations, containing a variety of rearrangements such as transl......
期刊： MOLECULAR CYTOGENETICS, 2022; 15 (1)
Background 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,X......
期刊： MOLECULAR CYTOGENETICS, 2022; 15 (1)
Background Chromosomal imbalances of several megabasepair in size are normally deleterious for the carrier. Still, rarely reported are so-called unbal......
期刊： MOLECULAR CYTOGENETICS, 2022; 15 (1)
Background Uniparental disomy (UPD) refers to an epigenomic abnormality in which both copies of, or a part of, a homologous pair of chromosomes are in......
期刊： MOLECULAR CYTOGENETICS, 2022; 15 (1)
Background Chromosome aberrations of 10p monosomy and 10q trisomy resulting from parental pericentric inversion 10 are extremely rare, and to date, ve......
期刊： MOLECULAR CYTOGENETICS, 2022; 15 (1)
Background 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 in......
期刊： MOLECULAR CYTOGENETICS, 2022; 15 (1)
Background Proximal region of chromosome 15 long arm is rich in duplicons that, define five breakpoints (BP) for 15q rearrangements. 15q11.2 microdele......
期刊： MOLECULAR CYTOGENETICS, 2022; 15 (1)
Background Copy number variants (CNVs) are an important source of normal and pathogenic genome variations. Unbalanced chromosome abnormalities (UBCA) ......
期刊： MOLECULAR CYTOGENETICS, 2022; 15 (1)
Background Copy number variants (CNVs) are an important source of normal and pathogenic genome variations. CNVs identified in prenatal cases need care......
期刊： MOLECULAR CYTOGENETICS, 2022; 15 (1)
Background Novel fusion genes such as ZNF384, have been identified in B-cell precursor acute lymphoblastic leukemia (BCP-ALL) in recent years. Patient......
