14qモノソミー
WordNet
- chromosomal abnormality consisting of the absence of one chromosome from the normal diploid number
UpToDate Contents
全文を閲覧するには購読必要です。 To read the full text you will need to subscribe.
English Journal
- 14q32.3-qter trisomic segment: a case report and literature review.
- Villa N1, Scatigno A2, Redaelli S3, Conconi D3, Cianci P2, Farina C4, Fossati C2, Dalprà L5, Maitz S2, Selicorni A2.
- Molecular cytogenetics.Mol Cytogenet.2016 Aug 5;9:60. doi: 10.1186/s13039-016-0265-5. eCollection 2016.
- BACKGROUND: Segmental duplication of the long arm of chromosome 14 (14q) has commonly been reported to affect the proximal segment of 14q, while distal duplication is a rare condition and often associated with segmental monosomy of other chromosomes.CASE PRESENTATION: We report the clinical and gene
- PMID 27499811
- Prenatal diagnosis and molecular cytogenetic characterization of a de novo unbalanced reciprocal translocation of der(9)t(9;14)(p24.2;q32.11) associated with 9p terminal deletion and 14q distal duplication.
- Chen CP1, Lin CJ2, Chern SR3, Wu PS4, Chen YN5, Chen SW5, Lee CC5, Chen LF5, Yang CW3, Wang W6.
- Taiwanese journal of obstetrics & gynecology.Taiwan J Obstet Gynecol.2016 Aug;55(4):596-601. doi: 10.1016/j.tjog.2016.06.008.
- OBJECTIVE: We present molecular cytogenetic characterization of a prenatally detected derivative chromosome 9 [der(9)] of unknown origin.CASE REPORT: A 35-year-old woman underwent amniocentesis at 18 weeks of gestation because of advanced maternal age, which revealed a der(9) chromosome of unknown
- PMID 27590390
- [Phenotypic and genetic analysis of a child featuring multiple malformations due to chromosome 14q deletion].
- Wang H1, Wu D, Qin L, Wang T, Zhang H, Xing M, Liao S.
- Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.Zhonghua Yi Xue Yi Chuan Xue Za Zhi.2016 Jun;33(3):361-4. doi: 10.3760/cma.j.issn.1003-9406.2016.03.019.
- OBJECTIVE: To analyze a child with mental retardation, growth retardation and language development disorders.METHODS: Conventional G-banding analysis was performed on chromosomes cultivated from peripheral blood samples derived from the child and her parents. Array-comparative genomic hybridization
- PMID 27264822
Japanese Journal
- A Case of Severe Mental and Developmental Retardation Associated with 14q Terminal Monosomy/5q Terminal Trisomy
- Hirayama Tsunenori
- Journal of Nippon Medical School 77(1), 40-44, 2010
- … Subtelomeric fluorescence in situ hybridization (FISH) analysis of the proband demonstrated 5q terminal trisomy and 14q terminal monosomy. … I presume that her mother harbors a balanced translocation between the terminal of chromosome 5q and 14q. …
- NAID 130004147026
- Cytogenetic Study of 48 Patients with Multiple Myeloma and Related Disorders
- NIMURA Takashi,MIURA Ikuo,KOBAYASHI Yoshimi,YOSHIOKA Tomoko,KUME Masaaki,TAKAHASHI Naoto,HIROKAWA Makoto,MIURA Akira B.,SAWADA Ken-ichi
- Journal of clinical and experimental hematopathology 43(2), 53-60, 2003-10-01
- … The break points were clustered at 1p13, 6q21, 7p11.2 14q32, 17p11 and 19p13.3, which were the loci of protooncogenes, tumor suppresser genes or immunoglobulin-related genes. …
- NAID 130000853042
- 14q32 translocations and monosomy 13 observed in monoclonal gammanopathy of undetermined significance delineate a multistep process for the oncogenesis of multiple myeloma. Intergroupe Francophone du Myelome
Related Pictures
★リンクテーブル★
[★]
- 英
- monosomy 14q
- 関
- 14番染色体