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1.
Sex chromosome trisomies (SCT) are among the most common chromosomal duplications in humans. Due to recent technological advances in non-invasive screening, SCT can already be detected during pregnancy. This calls for more knowledge about the development of (young) children with SCT. This review focused on neurocognitive functioning of children with SCT between 0 and 18 years, on domains of global intellectual functioning, language, executive functioning, and social cognition, in order to identify targets that could benefit from early treatment. Online databases were used to identify peer-reviewed scientific articles using specific search terms. In total 18 studies were included. When applicable, effect sizes were calculated to indicate clinical significance. Results of the reviewed studies show that although traditionally, the focus has been on language and intelligence (IQ) in this population, recent studies suggest that executive functioning and social cognition may also be significantly affected already in childhood. These findings suggest that neuropsychological screening of children diagnosed with SCT should be extended, to also include executive functioning and social cognition. Knowledge about these neurocognitive risks is important to improve clinical care and help identify targets for early support and intervention programs to accommodate for the needs of individuals with SCT. 相似文献
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《Cancer cell》2020,37(1):123-134.e5
3.
T.‐F. WANG S. W. HORSLEY K.‐F. LEE S.‐C. CHU C.‐C. LI R.‐H. KAO 《International journal of laboratory hematology》2006,28(3):160-163
Cytogenetic abnormalities are observed in approximately two‐thirds of patients with acute myeloid leukemia (AML). Chromosome rearrangements are associated with specific subtypes of AML and associated prognosis. We report a patient with AML, M2, who was primarily refractory to standard induction chemotherapy with idarubicin and cytarabine. Flow cytometry of a bone marrow aspirate showed aberrant expression of B‐cell markers including CD19. Cytogenetic studies disclosed a translocation between 5q35 and 11q13. Fluorescence in situ hybridization analyses demonstrated that neither the NSD1 nor MLL genes were involved in this case. Further study is required to define conclusively the genes involved and their contribution to pathogenesis in this case. 相似文献
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X chromosomal and autosomal loss of heterozygosity and microsatellite instability in human cervical carcinoma 总被引:1,自引:0,他引:1
J. EDELMANN K. RICHTER C. HÄNEL† S. HERING‡ & L.-C. HORN† 《International journal of gynecological cancer》2006,16(3):1248-1253
The study analyzes tumor material and normal tissue from 27 patients with pure squamous cell carcinoma of the uterine cervix for loss of heterozygosity (LOH) and microsatellite instability (MSI) on 14 autosomal and 11 X chromosomal loci. Overall, 4-40% of the informative cases showed LOH at autosomal regions with the highest frequency at 3p (21-40%) and a marked frequency at 2q35-q37.1 (12.5%) and 17p13.3 (10%), representing regions with putative tumor suppressor gene (TSG) function. The frequency of X chromosomal LOH ranged from 4% to 20%, with a maximum at Xq28 (20%) and Xq11.2-q12 (17%), again indicating alterations in TSG. A 12% LOH was seen at Xq21.33-q22.3, a region encoding a protein with a regulatory function in the cell cycle via cyclin-dependent kinases. MSI was detected in autosomal regions in up to 7% in regions linked to the X chromosome in up to 11%, probably indicating alterations of mismatch repair mechanisms. Our results and those obtained from the literature suggest that autosomal LOH and MSI in carcinomas of the cervix uteri are predominantly found at regions with putative TSG function. Beside TSG alterations, X chromosomal LOH is probably more strongly connected to disturbances in cell cycle regulation. 相似文献
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东茛菪碱五个剂量(1、2、5、10、20μg/ml作用于12名健康成人外周血淋巴细胞培养液诱发染色体畸变,并设空白对照组(生理盐水)。染色体畸变率分别为3.±0.5,9.6±1.1,11.7±1.1,13.6±2.3,18.0±3.0和17.5±2.0%;细胞畸变率为3.1±0.6,9.2±0.6,10.0±0.8,10.8±1.5,11.6±1.8和12.2±14.%。各剂量组与对照组比较差异高度显著(P<0.01)。方差分析,各剂量组间变异的差异高度显著(P<0.01)。相关系数和回归系数也非常显著(P<0.01)。结果表明,东莨菪碱剂量与染色体畸变率和细胞畸变率有线性关系。 相似文献
8.
目的 探讨遗传缺陷在无精子、严重少精子症中的检测意义。方法 采用细胞遗传学技术及多重聚合酶链反应(PCR)技术对65例无精子及严重少精子症患者进行染色体核型分析、Y染色体无精子因子(AZF)检测,同时行精索输精管诊察,阴性者行精液果糖定量实验。结果 染色体核型异常8例(12.3%),AZF因子缺失7例(10.8%),输精管缺如2例(3.1%)。结论 遗传学检测在男性无精子、严重少精子症有重要意义。 相似文献
9.
ltiswellknownthattheskinofextensivelyburnedcasesthemselvesisinsufficienttoprovidecoverageforwounds.Thoughallogeneicskincancoverthewoundstemporari1y,itwillberejectedwithin2-3weeks.Thiscanthreatenthepatient'slifeifthereisnoenoughautogenousskintoreplacetherejectedoneontime.GreenetalL1]reportedthattheburnwoundsofpatientswithextensiveburnscouldbetreatedbytransplantingepidermalautograftsafterautologousepidermalcellsmulti-plyforthousandsoftimesinvltrowithinashortperiodoftime-Butittakesatleast2-3weeks… 相似文献
10.
Tsutomu Ogata Peter Goodfellow Christine Petit Pierre Maroteaux Nobutake Matsuo 《American journal of medical genetics. Part A》1993,45(1):101-104
This is a follow-up report on a male patient with a 46, Y, r(X) karyotype. Although he had no clinico-radiological features of X-linked recessive chondrodysplasia punctata (CDPX1), molecular studies revealed an Xp terminal deletion involving the putative region for the CDPX1 locus (PABX-DXS31). We suspect that the absence of CDPX1 may be attributable to the nature of the disease and the extreme short stature of the patient (mean – 5.6 S.D.). © 1993 Wiley-Liss, Inc. 相似文献