Works matching IS 17558166 AND DT 2022 AND VI 15 AND IP 1

Results: 54

A treatment-refractory aggressive MDS-MLD with multiple highly complex chromosome 5 intrachromosomal rearrangements: a case report.

Published in:

2022

By:

Sasi, Ramakrishnan;
Senft, Jamie;
Spruill, Michelle;
Barua, Subit;
Dougaparsad, Sam;
Vos, Jeffrey A.;
Perrotta, Peter L.

Publication type:

Case Study

Molecular combing and its application in clinical settings.

Published in:

Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00628-8

By:

Wang, Yiping;
Kumar, Kishore Ramesh;
Liehr, Thomas

Publication type:

Article

Molecular cytogenetic and phenotypic characterization of Phelan McDermid and 22q13 duplication syndrome: a case report.

Published in:

2022

By:

Khalifa, Yousif;
Hassan, Hisham Y.;
Weise, Anja;
Liehr, Thomas;
Alkhayyat, Haya

Publication type:

Case Study

Haploinsufficiencies of FOXF1, FOXC2 and FOXL1 genes originated from deleted 16q24.1q24.2 fragment related with alveolar capillary dysplasia with misalignment of pulmonary veins and lymphedema-distichiasis syndrome: relationship to phenotype.

Published in:

Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00627-9

By:

Wang, Xuezhen;
Guo, Lili;
Zhang, Bei;
Wu, Jiebin;
Sun, Yu;
Tao, Huimin;
Sha, Jing;
Zhai, Jingfang;
Liu, Min

Publication type:

Article

Prenatal diagnosis and genetic counseling of an inherited Xq24q25 deletion associated with normal phenotype.

Published in:

2022

By:

Zhou, Yaqing;
Zhang, Mingxi;
Zhu, Yanmin;
Zhao, Qi

Publication type:

Case Study

Prenatal diagnosis and molecular cytogenetic analyses of a paternal inherited deletion of 1q23.3 encompassing PBX1 gene.

Published in:

Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00632-y

By:

Luo, Man;
Gu, Xia;
Zhou, Ting;
Chen, Chaoli

Publication type:

Article

Clinical evaluation of rare copy number variations identified by chromosomal microarray in a Hungarian neurodevelopmental disorder patient cohort.

Published in:

Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00623-z

By:

Lengyel, Anna;
Pinti, Éva;
Pikó, Henriett;
Kristóf, Árvai;
Abonyi, Tünde;
Némethi, Zaránd;
Fekete, György;
Haltrich, Irén

Publication type:

Article

Chromosomal instability (CIN) in HAP1 cell lines revealed by multiplex fluorescence in situ hybridisation (M-FISH).

Published in:

Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00625-x

By:

Banerjee, Ruby;
Sotero-Caio, Cibele G.;
Fu, Beiyuan;
Yang, Fengtang

Publication type:

Article

Somatic mosaicism in the diseased brain.

Published in:

Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00624-y

By:

Iourov, Ivan Y.;
Vorsanova, Svetlana G.;
Kurinnaia, Oxana S.;
Kutsev, Sergei I.;
Yurov, Yuri B.

Publication type:

Article

Observations on chromosome-specific sequencing for the construction of cross-species chromosome homology maps and its resolution of human:alpaca homology.

Published in:

Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00622-0

By:

Ferguson-Smith, Malcolm A.;
Pereira, Jorge C.;
Borges, Ana;
Kasai, Fumio

Publication type:

Article

Clinical and molecular cytogenetic findings and pregnancy outcomes of fetuses with isochromosome Y.

Published in:

Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00611-3

By:

He, Yiqun;
Guo, Li;
Zheng, Laiping;
Ren, Congmian;
Wang, Ting;
Lu, Jian

Publication type:

Article

21q22 amplification detection in three patients with acute myeloid leukemia: cytogenomic profiling and literature review.

Published in:

Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00606-0

By:

Kudalkar, Emily M.;
Pang, Changlee;
Haag, Mary M.;
Pollyea, Daniel A.;
Kamdar, Manali;
Xu, Gang;
Su, Meng;
Carstens, Billie;
Swisshelm, Karen;
Bao, Liming

Publication type:

Article

Cytogenetic profile of adult acute myeloid leukemia in Egypt: a single-center experience.

Published in:

Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00621-1

By:

Elnaggar, Mohamed G.;
Mosad, Eman;
Makboul, Ahmed;
Shafik, Engy Adel

Publication type:

Article

A case of complex balanced chromosomal translocations associated with adverse pregnancy outcomes.

Published in:

2022

By:

Luo, Yan;
Lu, Hezhen;
Zhang, Yanshang;
Cui, Zhiqiang;
Zhang, Pingping;
Li, Yali

Publication type:

Case Study

A case of complex balanced chromosomal translocations associated with adverse pregnancy outcomes.

Published in:

2022

By:

Luo, Yan;
Lu, Hezhen;
Zhang, Yanshang;
Cui, Zhiqiang;
Zhang, Pingping;
Li, Yali

Publication type:

Case Study

Positive predictive value estimates for noninvasive prenatal testing from data of a prenatal diagnosis laboratory and literature review.

Published in:

Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00607-z

By:

Liu, Siping;
Yang, Fang;
Chang, Qingxian;
Jia, Bei;
Xu, Yushuang;
Wu, Ruifeng;
Li, Liyan;
Chen, Weishan;
Yin, Ailan;
Huang, Fodi;
Feng, Suxin;
Li, Fenxia

Publication type:

Article

Clinical and molecular characterization of 1q43q44 deletion and corpus callosum malformations: 2 new cases and literature review.

Published in:

Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00620-2

By:

Khadija, Bochra;
Rjiba, Khouloud;
Dimassi, Sarra;
Dahleb, Wafa;
Kammoun, Molka;
Hannechi, Hanen;
Miladi, Najoua;
Gouider-khouja, Neziha;
Saad, Ali;
Mougou-Zerelli, Soumaya

Publication type:

Article

Identification of a familial complex chromosomal rearrangement by optical genome mapping.

Published in:

2022

By:

Yang, Yang;
Hao, Wang

Publication type:

Case Study

Clinical, cytogenetic, and genomic analyses of an Ecuadorian subject with Klinefelter syndrome, recessive hemophilia A, and 1;19 chromosomal translocation: a case report.

Published in:

2022

By:

Gaviria, Anibal;
Cadena-Ullauri, Santiago;
Cevallos, Francisco;
Guevara-Ramirez, Patricia;
Ruiz-Pozo, Viviana;
Tamayo-Trujillo, Rafael;
Paz-Cruz, Elius;
Zambrano, Ana Karina

Publication type:

Case Study

Prenatal diagnosis and genetic counseling of a paternally inherited microduplication 18q11.1 to 18q11.2 in a chinese family.

Published in:

Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00617-x

By:

Chen, Juan;
Zhang, Ying;
Zhang, Mingxi

Publication type:

Article

Prenatal diagnosis of trisomy 8 mosaicism, initially identified by cffDNA screening.

Published in:

Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00616-y

By:

Hu, Junjie;
Yan, Kai;
Jin, Pengzhen;
Yang, Yanmei;
Sun, Yixi;
Dong, Minyue

Publication type:

Article

Microdeletions in 1q21 and 8q12.1 depict two additional molecular subgroups of Silver-Russell syndrome like phenotypes.

Published in:

2022

By:

Baba, Naomi;
Lengyel, Anna;
Pinti, Eva;
Yapici, Elzem;
Schreyer, Isolde;
Liehr, Thomas;
Fekete, György;
Eggermann, Thomas

Publication type:

Case Study

Svetlana G. Vorsanova (1945–2021).

Published in:

Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00613-1

By:

Iourov, Ivan Y.

Publication type:

Article

False-positives and false-negatives in non-invasive prenatal testing (NIPT): what can we learn from a meta-analyses on > 750,000 tests?

Published in:

Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00612-2

By:

Liehr, Thomas

Publication type:

Article

Prenatal diagnosis and genetic counseling of a uniparental isodisomy of chromosome 8 with no phenotypic abnormalities.

Published in:

Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00594-1

By:

Yu, Chunjiao;
Tian, Ying;
Qi, Liang;
Wang, Bo

Publication type:

Article

Prenatal diagnosis and genetic counseling of an inherited unbalanced chromosome abnormalities in a Chinese family.

Published in:

2022

By:

Zhang, Ying;
Chen, Juan;
Feng, Zonghui;
Li, Wencheng

Publication type:

Case Study

Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism.

Published in:

Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00610-4

By:

Li, Dong;
Strong, Alanna;
Hou, Cuiping;
Downes, Helen;
Pritchard, Amanda Barone;
Mazzeo, Pamela;
Zackai, Elaine H.;
Conlin, Laura K.;
Hakonarson, Hakon

Publication type:

Article

Molecular cytogenetic characterization of a de novo derivative chromosome X with an unbalanced t(X;9) translocation in a fetus and literature review.

Published in:

Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00603-3

By:

Wu, Qiong;
Kong, Hui;
Shen, Yanyan;
Chen, Jing

Publication type:

Article

Identification of partial trisomy 13q in two unrelated patients using single-nucleotide polymorphism array and literature overview.

Published in:

Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00608-y

By:

Zhuang, Jianlong;
Chen, Chunnuan;
Zhang, Hegan;
Fu, Wanyu;
Li, Yanqing;
Jiang, Yuying;
Zeng, Shuhong;
Wu, Xiaoxia;
Xie, Yingjun;
Wang, Gaoxiong

Publication type:

Article

Prenatal genetic diagnosis of tetrasomy 18p from maternal trisomy 18p: a case report.

Published in:

2022

By:

Peng, Can;
LinPeng, SiYuan;
Bu, Xiufen;
Jiang, XuanYu;
Hu, LanPing;
He, Jun;
Zhou, ShiHao

Publication type:

Case Study

Analysis of complex chromosomal rearrangements using a combination of current molecular cytogenetic techniques.

Published in:

Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00597-y

By:

He, Ping;
Wei, Xiaoni;
Xu, Yuchan;
Huang, Jun;
Tang, Ning;
Yan, Tizhen;
Yang, Chuanchun;
Lu, Kangmo

Publication type:

Article

Prenatal diagnosis and genetic counseling of a paternally inherited chromosome 15q11.2 microdeletion in a Chinese family.

Published in:

2022

By:

Tang, Wenjuan;
Chen, Guowei;
Xia, Jingshu;
Zhang, Ying

Publication type:

Case Study

Prenatal diagnosis of Williams-Beuren syndrome by ultrasound and chromosomal microarray analysis.

Published in:

2022

By:

Huang, Ruibin;
Zhou, Hang;
Fu, Fang;
Li, Ru;
Lei, Tingying;
Li, Yingsi;
Cheng, Ken;
Wang, You;
Yang, Xin;
Li, Lushan;
Jing, Xiangyi;
Zhang, Yongling;
Li, Fucheng;
Li, Dongzhi;
Liao, Can

Publication type:

Case Study

Genome wide noninvasive prenatal testing detects microduplication of the distal end of chromosome 15 in a fetus: a case report.

Published in:

Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00592-3

By:

Sahinbegovic, Hana;
Andres, Stephanie;
Langer-Freitag, Sabine;
Divane, Aspasia;
Ieremiadou, Fotini;
Mehmedbasic, Senad;
Catic, Aida

Publication type:

Article

Molecular cytogenetic characterization of partial trisomy of the long arm of chromosome 11 in a patient with multiple congenital anomalies.

Published in:

2022

By:

Walker, Austin;
Wang, Xianfu;
Kim, Young Mi;
Lu, Xianglan;
Taylor, Ashley;
Demarzo, Danielle;
Li, Shibo;
Pang, Hui

Publication type:

Case Study

First case of two supernumerary markers derived from chromosome 5 and chromosome 8.

Published in:

Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00601-5

By:

Giansante, Roberta;
Palka Bayard De Volo, Chiara;
Alfonsi, Melissa;
Morizio, Elisena;
Guanciali Franchi, Paolo

Publication type:

Article

Mechanisms of structural chromosomal rearrangement formation.

Published in:

Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00600-6

By:

Burssed, Bruna;
Zamariolli, Malú;
Bellucco, Fernanda Teixeira;
Melaragno, Maria Isabel

Publication type:

Article

Molecular cytogenetic analysis of partial monosomy 10p and trisomy 10q resulting from familial pericentric inversion (10): a first case report in Chinese population.

Published in:

Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00599-w

By:

Zhuang, Jianlong;
Chen, Chunnuan;
Huang, Rongfu;
Luo, Qi;
Jiang, Yuying;
Zeng, Shuhong;
Wang, Yuanbai;
Xie, Yingjun

Publication type:

Article

Prenatal diagnosis and genetic counseling of a 10p11.23q11.21 duplication associated with normal phenotype.

Published in:

2022

By:

Song, Jieping;
Jiang, Wei;
Zhang, Chengcheng;
Wang, Bo

Publication type:

Case Study

Characterization of a rare mosaic X-ring chromosome in a patient with Turner syndrome.

Published in:

Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00593-2

By:

Luo, Hunjin;
Ni, Liu;
Yang, Yi-Qiong;
Zhang, Xiao-Min;
Huang, Hongping;
Tan, Sainan;
Ling, Chen;
Liang, Li;
Wang, Ling;
Dan, Tang;
Zhou, Shu-Xiang;
Yang, Chunliu

Publication type:

Article

Supernumerary derivative 22 chromosome resulting from novel constitutional non-Robertsonian translocation: t(20;22)—Case Report.

Published in:

2022

By:

Manju, H. C.;
Bevinakoppamath, Supriya;
Bhat, Deepa;
Prashant, Akila;
Kadandale, Jayaram S.;
Sairam, P. V. V. Gowri

Publication type:

Case Study

Prenatal diagnosis of a novel 7q31.31q31.33 microduplication with a favorable outcome.

Published in:

Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. N.PAG, doi. 10.1186/s13039-022-00589-y

By:

Luo, Huili;
Liu, Linlin;
Feng, Yuexiang

Publication type:

Article

Familial microdeletion 18p11.32 to 18p11.31 in a Chinese family with normal phenotype.

Published in:

2022

By:

Han, Miaomiao;
Wei, Lei;
Liu, Fang;
Gao, Xia

Publication type:

Case Study

New insights regarding origin of monosomy occurrence in early developing embryos as demonstrated in preimplantation genetic testing.

Published in:

Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00582-5

By:

Samara, N.;
Peleg, S.;
Frumkin, T.;
Gold, V.;
Amir, H.;
Haikin Herzberger, Einat;
Reches, A.;
Kalma, Y.;
Ben Yosef, Dalit;
Azem, F.;
Malcov, M.

Publication type:

Article

Uniparental disomy is a chromosomic disorder in the first place.

Published in:

Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00585-2

By:

Liehr, Thomas

Publication type:

Article

Growth retardation and congenital heart disease in a boy with a ring chromosome 6 of maternal origin.

Published in:

2022

By:

Dong, Yanling;
Li, Jian;
Zeng, Ziye;
Zhang, Xue;
Liang, Mingxin;
Yi, Hong;
Luo, Jianyun;
Li, Junnan

Publication type:

Case Study

Characterization of a rare mosaic unbalanced translocation of t(3;12) in a patient with neurodevelopmental disorders.

Published in:

Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00579-0

By:

Hu, Xiaolin;
Baker, Elizabeth K.;
Johnson, Jodie;
Balow, Stephanie;
Pena, Loren D. M.;
Conlin, Laura K.;
Guan, Qiaoning;
Smolarek, Teresa A.

Publication type:

Article

Identification of an SRY-negative 46,XX infertility male with a heterozygous deletion downstream of SOX3 gene.

Published in:

Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00580-7

By:

Qin, Shengfang;
Wang, Xueyan;
Wang, Jin

Publication type:

Article

Double aneuploidy mosaicism involving chromosomes 18 and 21 in a neonate.

Published in:

Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-021-00578-7

By:

Mendiola, Christina;
Ortega, Veronica;
Britt, Allison;
Fonseca, Rafael;
Velagaleti, Gopalrao

Publication type:

Article

Klinefelter syndrome mosaicism in boys with neurodevelopmental disorders: a cohort study and an extension of the hypothesis.

Published in:

Molecular Cytogenetics (17558166), 2022, v. 15, n. 1, p. 1, doi. 10.1186/s13039-022-00588-z

By:

Vorsanova, Svetlana G.;
Demidova, Irina A.;
Kolotii, Alexey D.;
Kurinnaia, Oksana S.;
Kravets, Victor S.;
Soloviev, Ilya V.;
Yurov, Yuri B.;
Iourov, Ivan Y.

Publication type:

Article