A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign.

abstract：BACKGROUND:About 10 -15 % of all clinically recognized pregnancies result in spontaneous miscarriages, and chromosomal abnormalities are the most common reason. The conventional karyotyping on chorionic villus samples (CVSs) is limited by cell culture and its resolution. This study aimed at evaluating the efficiency of...

journal_title：Molecular cytogenetics

authors： Shen J,Wu W,Gao C,Ochin H,Qu D,Xie J,Gao L,Zhou Y,Cui Y,Liu J

更新日期：2016-01-26 00:00:00

abstract：BACKGROUND:Roberts syndrome (RBS) is a rare autosomal recessive disorder mainly characterized by growth retardation, limb defects and craniofacial anomalies. Characteristic cytogenetic findings are "railroad track" appearance of chromatids and premature centromere separation in metaphase spreads. Mutations in the ESCO2...

journal_title：Molecular cytogenetics

authors： Dupont C,Bucourt M,Guimiot F,Kraoua L,Smiljkovski D,Le Tessier D,Lebugle C,Gerard B,Spaggiari E,Bourdoncle P,Tabet AC,Benzacken B,Dupont JM

更新日期：2014-09-30 00:00:00

abstract：:Despite the theoretical and experimental progress, our understanding on sex chromosome differentiation is still diagrammatic. The accumulation of repetitive DNA sequences is believed to occur in early stages of such differentiation. As fish species present a wide range of sex chromosome systems they are excellent mode...

journal_title：Molecular cytogenetics

authors： Xu D,Lou B,Bertollo LA,Cioffi Mde B

更新日期：2013-03-19 00:00:00

abstract：BACKGROUND:Microarray-based comparative genomic hybridization (aCGH) is a powerful diagnostic tool for the detection of DNA copy number gains and losses associated with chromosome abnormalities, many of which are below the resolution of conventional chromosome analysis. It has been presumed that whole-genome oligonucle...

journal_title：Molecular cytogenetics

authors： Neill NJ,Torchia BS,Bejjani BA,Shaffer LG,Ballif BC

更新日期：2010-06-29 00:00:00

abstract：BACKGROUND:We report clinical and molecular cytogenetic characterization of a 2 year-old girl with 19p13.2p13.12 microdeletion and compare her clinical features with those of three other patients reported before. RESULT:Array comparative genomic hybridization (aCGH) revealed in the present patient a de novo microdelet...

journal_title：Molecular cytogenetics

authors： Natiq A,Elalaoui SC,Miesch S,Bonnet C,Jonveaux P,Amzazi S,Sefiani A

更新日期：2014-06-05 00:00:00

abstract：BACKGROUND:Pure interstitial duplications of chromosome band 4p16.3 represent an infrequent chromosomal finding with, to the best of our knowledge, only two patients to date reported. CASE PRESENTATION:We report on a 13-year-old boy showing a set of dysmorphic facial features, attention deficit hyperactivity disorders...

journal_title：Molecular cytogenetics

authors： Palumbo O,Palumbo P,Ferri E,Riviello FN,Cloroformio L,Carella M,Di Giacomo MC

更新日期：2015-02-28 00:00:00

abstract：BACKGROUND:Large amounts of low copy number repeats in the 15q11.2q13.3 chromosomal region increase the possibility of misalignments and unequal crossover during meiosis in this region, leading to deletions, duplications, triplications and supernumerary chromosomes. Most of the reported cases with epilepsy, autism and ...

journal_title：Molecular cytogenetics

authors： Szabo A,Czako M,Hadzsiev K,Duga B,Komlosi K,Melegh B

更新日期：2015-06-25 00:00:00

abstract：BACKGROUND:Angelman syndrome is a rare neurogenetic disorder that results in intellectual and developmental disturbances, seizures, jerky movements and frequent smiling. Angelman syndrome is caused by two genetic disturbances: either genes on the maternally inherited chromosome 15 are deleted or inactivated or two pate...

journal_title：Molecular cytogenetics

authors： Horváth E,Horváth Z,Isaszegi D,Gergev G,Nagy N,Szabó J,Sztriha L,Széll M,Endreffy E

更新日期：2013-09-08 00:00:00

abstract：Background:Hand-foot-genital syndrome (HFGS) is a rare condition characterized by congenital malformations in the limbs and genitourinary tract. Generally, this syndrome occurs due to point mutations that cause loss of function of the HOXA13 gene, which is located on 7p15; however, there are some patients with HFGS cau...

journal_title：Molecular cytogenetics

authors： Yokoyama E,Smith-Pellegrin DL,Sánchez S,Molina B,Rodríguez A,Juárez R,Lieberman E,Avila S,Castrillo JL,Del Castillo V,Frías S

更新日期：2017-11-15 00:00:00

abstract：Background:Chromosome translocations are rare but frequently associated with infertility. The objective of this study is to investigate the feasibility of using chromosomal microarray analysis (CMA) on products of conception (POC) samples as an indicator of parental balanced translocation. From January 2011 to December...

journal_title：Molecular cytogenetics

authors： Qian YQ,Fu XY,Wang XQ,Luo YQ,Chen M,Yan K,Yang YM,Liu B,Wang LY,Huang YZ,Li HG,Pan HY,Jin F,Dong MY

更新日期：2018-01-30 00:00:00

abstract：BACKGROUND:Ring chromosomes are normally associated with developmental anomalies and are rarely inherited. An exception to this rule is provided by deletion/ring cases. We were provided with a unique opportunity to investigate the meiotic segregation at oogenesis in a woman who is a carrier of a deleted/ring 22 chromos...

journal_title：Molecular cytogenetics

authors： Mantzouratou A,Mania A,Apergi M,Laver S,Serhal P,Delhanty J

更新日期：2009-01-23 00:00:00

abstract：:The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia recognizes a distinct class of myeloid and lymphoid tumors with eosinophilia-related proliferations associated with specific gene rearrangements, one of which involves rearrangements of platelet-derived growth fac...

journal_title：Molecular cytogenetics

authors： Furtado VF,Saini NY,Walsh W,Bathini V,Miron PM

更新日期：2018-10-19 00:00:00

abstract：BACKGROUND:GSTM1 gene deletion is one of the most known copy number polymorphisms in human genome. It is most likely caused by homologous recombination between the repeats flanking the gene. However, taking into account that the deletion has no crucial effects on human well-being, and the ability of other GSTMs to comp...

journal_title：Molecular cytogenetics

authors： Khrunin AV,Filippova IN,Aliev AM,Tupitsina TV,Slominsky PA,Limborska SA

更新日期：2016-04-19 00:00:00

abstract：BACKGROUND:Reciprocal Y autosome translocations are rare but frequently associated with male infertility. We report on the meiotic outcome in embryos fathered by two males with the karyotypes 46,X,t(Y;4)(q12;p15.32) and 46,X,t(Y;16)(q12;q13). The two couples underwent preimplantation genetic diagnosis (PGD) enabling de...

journal_title：Molecular cytogenetics

authors： Ghevaria H,Naja R,SenGupta S,Serhal P,Delhanty J

更新日期：2017-02-02 00:00:00

abstract：:Mutations of mediator subcomplex 12 (MED12) and of high mobility group protein AT-hook 2 (HMGA2) are driver mutations in uterine leiomyomas (UL) that have not been observed to coexist in one tumor and even rarely coexist in different UL tumors of one patient. Here we describe a patient who underwent hysterectomy becau...

journal_title：Molecular cytogenetics

authors： Holzmann C,Markowski DN,Bartnitzke S,Koczan D,Helmke BM,Bullerdiek J

更新日期：2015-10-14 00:00:00

abstract：BACKGROUND:Heterochromatic variants of pericentromere of chromosome 9 are reported and discussed since decades concerning their detailed structure and clinical meaning. However, detailed studies are scarce. Thus, here we provide the largest ever done molecular cytogenetic research based on >300 chromosome 9 heteromorph...

journal_title：Molecular cytogenetics

authors： Kosyakova N,Grigorian A,Liehr T,Manvelyan M,Simonyan I,Mkrtchyan H,Aroutiounian R,Polityko AD,Kulpanovich AI,Egorova T,Jaroshevich E,Frolova A,Shorokh N,Naumchik IV,Volleth M,Schreyer I,Nelle H,Stumm M,Wegner RD,Rei

更新日期：2013-04-01 00:00:00

abstract：BACKGROUND:Myelodysplastic syndromes (MDS) are a heterogeneous group of clonal hematological malignancies. In MDS patients with a fibrotic bone marrow the aspiration of cells often fails (dry-tap), which hampers standard karyotyping. Obtaining genetic data from these fibrotic marrows is therefore challenging, and up ti...

journal_title：Molecular cytogenetics

authors： Stevens-Kroef MJ,Hebeda KM,Verwiel ET,Kamping EJ,van Cleef PH,Kuiper RP,Groenen PJ

更新日期：2015-05-28 00:00:00

abstract：BACKGROUND:B chromosomes, also known as supernumerary or accessory chromosomes, are additional chromosomes over the standard complement found in various groups of plants and animals. We investigated the presence of, and characterized, supernumerary microchromosomes in Astyanax goyacensis using classical and molecular c...

journal_title：Molecular cytogenetics

authors： Dos Santos LP,Castro JP,Francisco CM,Vicari MR,de Almeida MC,Goll LG,Morelli S,Artoni RF

更新日期：2013-11-05 00:00:00

abstract：Background:22q11.2 deletion syndrome (22q11.2DS) and 22q11.2 duplication syndrome (22q11.2DupS) are the most common copy number variations in humans. The clinical phenotypes of these two syndromes are variable, and there are no large sample data on the prenatal detection rate for these two syndromes in the Chinese popu...

journal_title：Molecular cytogenetics

authors： Li S,Jin Y,Yang J,Yang L,Tang P,Zhou C,Wu L,Dong J,Chen J,Shen H

更新日期：2020-07-08 00:00:00

abstract：BACKGROUND:Balanced complex translocations (BCTs) are rare events, they may result in reproductive failures: spontaneous abortions, missed abortions, stillbirths, congenital malformations in children, and male infertility. BCTs belong to the group of complex chromosome rearrangements (CCRs) - up to date about 260 cases...

journal_title：Molecular cytogenetics

authors： Lazarczyk E,Drozniewska M,Pasinska M,Stasiewicz-Jarocka B,Midro AT,Haus O

更新日期：2014-11-19 00:00:00

abstract：Background:Copy number variation (CNV) is a complex genomic rearrangement that has been linked to a large number of human diseases. Chromosome 15q13 microduplication is a rare form of CNV, which has been proved to be associated with multiple human disorders; however, the association between chromosome 15q13 microduplic...

journal_title：Molecular cytogenetics

authors： Lin CZ,Qi BR,Hu JS,Huang YD,Huang XQ

更新日期：2019-05-27 00:00:00

abstract：BACKGROUND:The well-known typical fusion gene BCR/ABL can be observed in connection with a complex translocation event in only 2-10% of cases with chronic myeloid leukemia (CML). As currently most CML cases are treated with Imatinib, variant rearrangements have in general no specific prognostic significance, though the...

journal_title：Molecular cytogenetics

authors： Al Achkar W,Wafa A,Mkrtchyan H,Moassass F,Liehr T

更新日期：2009-11-09 00:00:00

abstract：BACKGROUND:FOXG1 gene mutations have been associated with the congenital variant of Rett syndrome (RTT) since the initial description of two patients in 2008. The on-going accumulation of clinical data suggests that the FOXG1-variant of RTT forms a distinguishable phenotype, consisting mainly of postnatal microcephaly,...

journal_title：Molecular cytogenetics

authors： Fryssira H,Tsoutsou E,Psoni S,Amenta S,Liehr T,Anastasakis E,Skentou Ch,Ntouflia A,Papoulidis I,Manolakos E,Chaliasos N

更新日期：2016-08-02 00:00:00

abstract：Background:Jumping translocations (JTs) are rare chromosome rearrangements characterized by re-localization of one donor chromosome to multiple recipient chromosomes. Here, we describe an acute myeloid leukemia (AML) that progressed from myelodysplastic syndrome (MDS) in association with acquisition of 1q JTs. The sequ...

journal_title：Molecular cytogenetics

authors： Lee I,Gudipati MA,Waters E,Duong VH,Baer MR,Zou Y

更新日期：2019-11-19 00:00:00

abstract：Background:In countries where comparative genomic hybridization arrays (aCGH) and next generation sequencing are not widely available due to accessibility and economic constraints, conventional 400-500-band karyotyping is the first-line choice for the etiological diagnosis of patients with congenital malformations and ...

journal_title：Molecular cytogenetics

authors： Yokoyama E,Del Castillo V,Sánchez S,Ramos S,Molina B,Torres L,Navarro MJ,Avila S,Castrillo JL,García-De Teresa B,Asch B,Frías S

更新日期：2018-05-09 00:00:00

abstract：BACKGROUND:Most microdeletions involving chromosome sub-bands 9q33.3-9q34.11 to this point have been detected by analyses focused on STXBP1, a gene known to cause early infantile epileptic encephalopathy 4 and other seizure phenotypes. Loss-of-function mutations of STXBP1 have also been identified in some patients with...

journal_title：Molecular cytogenetics

authors： Ehret JK,Engels H,Cremer K,Becker J,Zimmermann JP,Wohlleber E,Grasshoff U,Rossier E,Bonin M,Mangold E,Bevot A,Schön S,Heilmann-Heimbach S,Dennert N,Mathieu-Dramard M,Lacaze E,Plessis G,de Broca A,Jedraszak G,Röthlis

更新日期：2015-09-29 00:00:00

abstract：BACKGROUND:Deletion of 13q14 is the most common cytogenetic change in chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL) and is detected in about 50 % of patients by fluorescence in situ hybridization (FISH), which can reveal presence of del(13)(q14) and mono- or biallelic deletion status without informa...

journal_title：Molecular cytogenetics

authors： Grygalewicz B,Woroniecka R,Rygier J,Borkowska K,Rzepecka I,Łukasik M,Budziłowska A,Rymkiewicz G,Błachnio K,Nowakowska B,Bartnik M,Gos M,Pieńkowska-Grela B

更新日期：2016-01-06 00:00:00

abstract：BACKGROUND:Kleefstra syndrome is a rare genetic disorder, with core phenotypic features encompassing developmental delay/intellectual disability, characteristic facial features - brachy(micro)cephaly, unusual shaped eyebrows, flat face with hypertelorism, short nose with anteverted nostrils, thickened lower lip, carpmo...

journal_title：Molecular cytogenetics

authors： Hadzsiev K,Komlosi K,Czako M,Duga B,Szalai R,Szabo A,Postyeni E,Szabo T,Kosztolanyi G,Melegh B

更新日期：2016-02-25 00:00:00

abstract：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 transplantation.Cells of 58 patients were characterized as disease-associated due to presence of a ...

journal_title：Molecular cytogenetics

authors： Erlecke J,Hartmann I,Hoffmann M,Kroll T,Starke H,Heller A,Gloria A,Sayer HG,Johannes T,Claussen U,Liehr T,Loncarevic IF

更新日期：2009-05-29 00:00:00

abstract：BACKGROUND:Even though comparative nuclear architecture studies in hominoids are sparse, nuclear chromosome architecture was shown to be conserved during hominoid evolution. Thus, it is suspected that yet unknown biological mechanisms must underlie this observation. RESULTS:Here for the first time a combination of mul...

journal_title：Molecular cytogenetics

authors： Manvelyan M,Hunstig F,Mrasek K,Bhatt S,Pellestor F,Weise A,Liehr T

更新日期：2008-04-29 00:00:00