منابع مشابه
The maternal uniparental disomy of chromosome 6 (upd(6)mat) “phenotype”: result of placental trisomy 6 mosaicism?
BACKGROUND Maternal uniparental disomy of chromosome 6 (upd(6)mat) is a rare finding and its clinical relevance is currently unclear. Based on clinical data from two new cases and patients from the literature, the pathogenetic significance of upd(6)mat is delineated. METHODS Own cases were molecularly characterized for isodisomic uniparental regions on chromosome 6. For further cases with upd...
متن کاملThe mitral gap at 11 + 0 to 13 + 6 weeks: marker of trisomy 21 or artifact?
OBJECTIVES To investigate the possible association between a particular pulsed Doppler waveform pattern, mitral gap, and trisomy 21 at 11 + 0 to 13 + 6 weeks. METHODS We performed two studies. The first was a retrospective analysis of pulsed Doppler velocity waveforms of the mitral valve inflow, recorded during specialist fetal echocardiography in 291 chromosomally normal and 144 trisomy 21 f...
متن کاملTrisomy 6: a recurring cytogenetic abnormality associated with marrow hypoplasia.
The pathogenesis of aplastic anemia is recognized to be heterogeneous. Although there is indirect evidence for an immunologic basis in many cases, the development of chronic marrow aplasia following chemical, toxin, or radiation exposure suggests that damage to the hematopoietic stem cells may cause the disease in some patients.’ In addition, a small number of patients with otherwise typical ap...
متن کاملChapter 6 , Operations Research ( OR )
Maximize ZD = b T y s.t. (D) A y + s = c, s ≥ 0n. where we have here chosen to add slack variables s ≥ 0n. The simplex method, as presented previously, works by starting with an initial basic feasible solution to (P) (which can be found via a phase 1 problem). However, what if a dual feasible basis is immediately available, whereas a basic feasible solution to (P) is harder to obtain? Can this ...
متن کامل+ 5 or trisomy 5
In childhood ALL, an extra chromosome 5 is commonly encountered in cases with hyperdiploidy >50 chromosomes. The presence of trisomy 5 in high hyperdiploid childhood ALL is associated with a less favourable clinical outcome. Trisomy 5 as a sole abnormality in ALL is exceedingly rare and described in only 3 cases, including 2 adult ALL and 1 paediatrics case occurring in a 12-year old girl. Tris...
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ژورنال
عنوان ژورنال: Atlas of Genetics and Cytogenetics in Oncology and Haematology
سال: 2011
ISSN: 1768-3262
DOI: 10.4267/2042/38114