Discussion The incidence of Trisomy 21 in Ireland is the highest in Europe at 1 in 546 live births whereas the incidence of Turner's syndrome is 1 in 2500 live female births. Double aneuploidy of both autosomal and sex chromosomes, is, however a rare occurrence. It presents an interesting ...
Mosaic trisomy 21 accounts for 2–4% of Down's syndrome cases, which are distinct from complete trisomy in that the former can have less severe intellectual and developmental manifestations [24]. Mosaic Turner's syndrome, also known as mosaic X loss, also manifests in a less severe phenotype...
The cognitive and physical stigmata of mosaic Down syndrome (DS) are often considered to be less severe than complete trisomy-21 DS. In contrast to complete trisomy-21 DS, the ophthalmic manifestations in mosaic DS have rarely been reported. The aim of the present study is to report clinically...
这是一个原本在外院诊断有高比例异常镶嵌型三染色体15(mosaic trisomy 15),同时并有疑似天使症候群(Angelman syndrome),即父源单亲二染色体15(paternal uniparental disomy15)即patUPD(15)的案例。焦虑的父母在妊娠25周时来到马偕纪念医院妇产科我的遗传咨询门诊就诊,寻求最后一缐希望,我也绞尽脑汁,努力不懈,排除原...
Mosaic down syndrome is a common genetic disorder. The syndrome is related to excessive cell division which causes extra genetic material in Chromosome 21. The genetic disorder varies from person to person and severity. It is one of the common disorders that cause lifelong disabilities especially in...
11 Bonaglia MC, Giorda R, Mani E et al: Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome. J Med Genet 2006; 43: 822 – 828. 12 Bonaglia MC, Marelli S, Gottardi G et al: Subtelomeric trisomy 21q: a new benign chromosomal variant. ...
Women with trisomy X (47,XXX) are reported to be taller than average and to have earlier menopause, but the evidence to support these associations is limited to potentially biased collections of cases reaching medical attention.6In contrast, women with a 45,X chromosome complement or Turner syn...
A 34-year-old woman was referred to genetic counselling for trisomy 21 (T21) increased risk at the combined test. CV sampling was performed at 13th weeks’ gestation, showing a non-mosaic add(6)(p25) in 12 metaphases analysed from the direct preparation, with a normal karyotype in 22 ce...
Fertility in a male with trisomy 21. We review the published reports on reproduction in cases of non-mosaic trisomy 21 (Down's syndrome) and present the first fully documented case of a non-mo... R Sheridan,J Llerena,S Matkins,... - 《Journal of Medical Genetics》 被引量: 69发表: ...
However, mosaic trisomy 22 usually has prolonged survival compatibility and may present a good prognosis depending on the tissues affected. Herein, we described a male patient with the occurrence of mosaic trisomy 22 associated with the inversion of chromosome 9, with karyotype 47, XY, inv (9) ...