Results 31 to 40 of about 43,589 (247)

Oral characteristics of Trisomy 8 and monosomy 18: a case report [PDF]

, 2011
Several reports described various mosaic chromosomal syndromes characterized by alterations originated by either an excess or deficit in the number of chromosomes.
Campus, Guglielmo Giuseppe, Lugliè, Pietrina Francesca, Sale, Silvana, Spano, Giovanni   +3 more
core   +1 more source

Long Survival of a Patient with Trisomy 18 and Dandy-Walker Syndrome

Medicina, 2019
Trisomy 18 is a genetic disease resulting from an extra chromosome 18, characterized by a broad clinical spectrum, poor prognosis and low rates of survival. This is the case of a 12 year-old girl diagnosed with full trisomy 18, and multiple malformations,
Leonardo Moura Ferreira de Souza, Augusto Galvão e Brito Medeiros, José Paulo Ribeiro Júnior, Aurea Nogueira de Melo, Sylvyo André Morais Medeiros Dias   +4 more
doaj   +1 more source

Leukemia-related chromosomal loss detected in hematopoietic progenitor cells of benzene-exposed workers. [PDF]

, 2012
Benzene exposure causes acute myeloid leukemia and hematotoxicity, shown as suppression of mature blood and myeloid progenitor cell numbers. As the leukemia-related aneuploidies monosomy 7 and trisomy 8 previously had been detected in the mature ...
Guo, W, Hayes, R, Hubbard, A, Ji, Z, Lan, Q, Li, G, Linet, M, McHale, C, Rappaport, S, Rothman, N, Shen, M, Smith, Martyn T., Vermeulen, R, Yin, S, Zhang, L   +14 more
core   +1 more source

Coexistence of trisomies of chromosomes 12 and 19 in chronic lymphocytic leukemia occurs exclusively in the rare IgG-positive variant [PDF]

Leukemia, 2011
Coexistence of trisomies of chromosomes 12 and 19 in chronic lymphocytic leukemia occurs exclusively in the rare IgG-positive ...
Ibbotson, R., Athanasiadou, A., Sutton, L-A, Davis, Z., Gardiner, A., Baliakas, P., Gunnarsson, R., Anagnostopoulos, A., Juliusson, Gunnar, Rosenquist, R., Oscier, D., Stamatopoulos, K.   +11 more
openaire   +3 more sources

Trisomy 7 mosaicism at amniocentesis: Interphase FISH, QF-PCR, and aCGH analyses on uncultured amniocytes for rapid distinguishing of true mosaicism from pseudomosaicism

Taiwanese Journal of Obstetrics & Gynecology, 2012
Objective: To present prenatal diagnosis of true trisomy 7 mosaicism. Materials, Methods and Results: A 36-year-old woman underwent amniocentesis at 18 weeks of gestation. Amniocentesis revealed a karyotype of 47,XY,+7[20]/46,XY[9].
Chih-Ping Chen, Hsu-Kuang Huang, Yi-Ning Su, Schu-Rern Chern, Jun-Wei Su, Chen-Chi Lee, Dai-Dyi Town, Wen-Lin Chen, Yu-Ting Chen, Wayseen Wang   +9 more
doaj   +1 more source

First trimester combined test for Down syndrome screening in unselected pregnancies — A report of a 13-year experience

Taiwanese Journal of Obstetrics & Gynecology, 2013
Objective: To analyze the performance of the first trimester Down syndrome screening in a single medical center in Northern Taiwan. Materials and methods: From April 1999 to June 2012, a total of 25,104 pregnant women at gestational age of 10 weeks to 13
Fa-Kung Lee, Li-Ching Chen, Mei-Leng Cheong, Ching-Yu Chou, Ming-Song Tsai   +4 more
doaj   +1 more source

Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy. [PDF]

, 2014
Mandibuloacral dysplasia (MAD) is a rare autosomal recessive disorder characterized by postnatal growth retardation, craniofacial anomalies, skeletal malformations, and mottled cutaneous pigmentation.
Bai, Shaochun, Das, Soma, Dempsey, Melissa, Dietz, Harry C, Jones, Marilyn C, Lozada, Anthony   +5 more
core   +3 more sources

Assessment of Molecular Cytogenetic Methods for the Detection of Chromosomal Abnormalities [PDF]

, 2006
Some marker chromosomes and chromosome rearrangements are difficult to identify using G-bands by Giemsa staining after trypsin treatment (G-banding) alone.
Maruyama, Hidehiko, Morishima, Tsuneo, Ninomiya, Shinsuke, Shinozuka, Masako, Une, Tomoka, Yokoyama, Yuji   +5 more
core   +1 more source

Genetic analysis and clinical significance of a rare t(1;12)(q21;p13) in a patient with high‐risk myelodysplastic syndrome

Molecular Genetics & Genomic Medicine, 2022
To explore the genetic and clinical features of a rare t(1;12)(q21;p13) in a patient with myelodysplastic syndrome (MDS). A 53‐year‐old male was diagnosed as high‐risk MDS, and died in a short period.
Fang Fang, Ru Jia, Congyan Liu, Hong Zhao, Wanling Sun   +4 more
doaj   +1 more source

Prenatal diagnosis of mosaic trisomy 18 and maternal uniparental disomy 18 by amniocentesis in a pregnancy associated with cytogenetic discrepancy in various tissues and a favorable fetal outcome

Taiwanese Journal of Obstetrics & Gynecology, 2023
Objective: We present prenatal diagnosis of mosaic trisomy 18 and maternal uniparental disomy (UPD) 18 in a pregnancy with a favorable fetal outcome. Case report: A 34-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced ...
Chih-Ping Chen, Fang-Tzu Wu, Yen-Ting Pan, Schu-Rern Chern, Peih-Shan Wu, Chien-Ling Chiu, Chen-Chi Lee, Wen-Lin Chen, Wayseen Wang   +8 more
doaj   +1 more source