15qトリソミー
WordNet
- chrosomal abnormality in which there is one more than the normal number of chromosomes in a cell
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English Journal
- Detection of mutually exclusive mosaicism in a girl with genotype-phenotype discrepancies.
- Luo M1, Mulchandani S1, Dubbs HA2, Swarr D2, Pyle L2, Zackai EH2, Spinner NB1, Conlin LK1.
- American journal of medical genetics. Part A.Am J Med Genet A.2015 Jul 21. doi: 10.1002/ajmg.a.37261. [Epub ahead of print]
- Discordance between clinical phenotype and genotype has multiple causes, including mosaicism. Phenotypes can be modified due to tissue distribution, or the presence of multiple abnormal cell lines with different genomic contributions. We have studied a 20-month-old female whose main phenotypes were
- PMID 26198585
- 408 kb 15q11.2 microduplication by array comparative genomic hybridization in a fetus presenting with exomphalos, micrognathia, tetralogy of Fallot and normal karyotype: a genetic counseling dilemma in paternal carrier status.
- Tonni G1, Bellotti M, Palmisano M, Alesi V, Bertoli M, Bonasoni MP.
- Congenital anomalies.Congenit Anom (Kyoto).2015 Feb;55(1):65-70. doi: 10.1111/cga.12078.
- Exomphalos may be associated with chromosomal abnormalities and syndromes. Severe exomphalos (herniation of liver, midgut and spleen) associated with increased nuchal translucency was seen at first trimester screening test. Karyotype by chorionic villus sampling showed normal male fetus. Follow up s
- PMID 25109822
- Distal Partial Trisomy 15q26 and Partial Monosomy 16p13.3 in a 36-Year-Old Male with Clinical Features of Both Chromosomal Abnormalities.
- Cox DM1, Butler MG.
- Cytogenetic and genome research.Cytogenet Genome Res.2015;145(1):29-34. doi: 10.1159/000381293. Epub 2015 Apr 8.
- We report a 36-year-old Caucasian male identified with distal partial trisomy 15q and partial monosomy 16p from an unbalanced chromosome translocation detected by microarray and FISH analysis. He had a history of developmental delay and intellectual disability, chronic anemia, tall and slender statu
- PMID 25871641
Japanese Journal
- A cytogenetic study of nonpolymalformed patients with mental retardation of clinically undefined etiology: application of a high resolution banding technique.
- Kikkawa Kiyoshi,Narahara Kouji,Kimoto Hiroshi
- Acta Medica Okayama 43(2), 1989-04-00
- … Autosomal abnormalities included partial monosomy (5 cases), reciprocal translocation (one case), 13/14 robertsonian translocation (3 cases), unbalanced translocation (one case), inverted duplication of 15q (one case) and mosaic trisomy 21 (one case). …
- NAID 120002305108
- PARTIAL TRISOMY FOR THE DISTAL PART OF THE LONG ARM OF CHROMOSOME 15 : A NEW SYNDROME ?
- KANEKO Keijiro,KATABUCHI Hidetaka,MURATA Hiromi
- 日本産科婦人科學會雜誌 38(6), 940-944, 1986-06-01
- … malformed male neonate with partial trisomy 15q dist (q22→qter), because of malsegregation of a balanced translocation (7;15) (p22;q22) in his mother, is described.Comparison of this patient with thirteen previously published cases of this trisomy reveals a pattern of common features including : peculiar craniofacial dysmorphism -facial asymmetry, antimongoloid slant, narrow or short palpebral fissures, prominent nose, long or distinct philtrum, long upper lip, micro or retrognathia, high arched …
- NAID 110002221655
- Dandy-Walker奇形を合併した15q遠位部トリソミ-の女児〔英文〕
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