Synonyms Patau syndrome Definition and Characteristics About 80% of all cases are free trisomies, and the majority arise from nondisjunction failure in maternal meiosis I. The remainder is associated with rearr
Figure 6.Woman with Turner's syndrome. Note the short stature, webbed neck, and infantile sexual characteristics. Reproduced from Connor, J. and Ferguson-Smith, M. (1987).Essential medical genetics(2nd edn.). Oxford: Blackwell Scientific. ...
Trisomy 13, an uncommon autosomaltrisomy, is also known as Patau syndrome. The incidence of thischromosomal disorderranges from 1 in 5,000 to 12,000 live births. Major features of this syndrome includecleft lip and palate,holoprosencephaly,polydactyly, rocker-bottom feet,microphthalmia,microcephaly, ...
Clinical features of the present case demonstrated many characteristics common to those of the reported cases of partial 2p trisomy syndrome in foreign countries. Relation of this rare chromosomal abnormality to the concomitant occurrence of neuroblastoma was briefly discussed. This is a preview of ...
We have studied maternal serum free beta-hCG and PAPP-A, and fetal nuchal translucency (NT) in a series of 46 cases of fetal Turner's syndrome, 13 cases of... Spencer,K,Tul,... - 《Prenatal Diagnosis》 被引量: 154发表: 2000年 Maternal serum inhibin-A and free β-hCG concentrations...
9.Hematological Characteristics and Prognosis of Myelodysplastic Syndrome with Sole Trisomy 11单纯11三体骨髓增生异常综合征的血液学特征与预后 10.secondary antibody deficiency syndrome继发性抗体缺乏综合征 11.ectopic pinealoma syndrome异位松果体瘤综合征 12.Diagnosis and treatment of 56 cases of Mirizzi's syn...
Goldberg-Stern, H.et al. Seizure frequency and characteristics in children with Down syndrome.Brain Dev.23, 375–8 (2001). ArticleCASPubMedGoogle Scholar Wilcock, D. M. & Griffin, W. S. T. Down’s syndrome, neuroinflammation, and Alzheimer neuropathogenesis.J. Neuroinflammation10, 84 (2013...
3. Down syndrome (trisomy21) is a disorder caused by the presence of an extra 21st chromosome. 唐氏综合症(21三体综合症)是由于患者额外多了一条21号染色体所致的疾病。 youdao 4. Objective:To evaluate sonographic characteristics on prenatal ultrasound study oftrisomy13 and 18… ...
We retrospectively analyzed the expression of multiple lymphoid, myelomonocytic, and megakaryocytic antigens on blast proliferations in 18 patients with Down syndrome (DS; AML, 9; TMD, 9). The AMLs and TMDs shared several immunophenotypic characteristics. Blasts in all expressed CD45, CD38, and ...
Mental retardation or delayed psychomotor development combined with physical handi- caps could be observed in all probands of these cases, and the other clinical features of each proband were corre- sponding to the characteristics of each trisomy syndrome fundamentally. In our study, the neocentric...