نتایج جستجو برای: ring chromosome 14
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Epilepsy is the most common and serious neurological symptom in ring chromosome 14 syndrome, also characterised by mild dysmorphisms, acquired microcephaly, cognitive impairment, hypotonia and ocular abnormalities. Typically, early-onset, polymorphous and drug-resistant seizures are reported. Status epilepticus has not been previously reported. We describe a nine-year-old Caucasian boy with rin...
Four children in the same family have 47, +der (14), t(9;14) (p24;q21). Their mothers are sisters with 46,XX,t(9;14) (p24;q21). Clinical features of the children are similar to those of others reported to have partial 14 trisomy.
to remove unfavorable traits of new cereal tritipyrum (2n=6x=42, aabbebeb), various crosses between primary tritipyrum lines (female) with iranian bread wheat varieties (2n=6x=42, aabbdd) was performed and a f2 selfing population consisted of 1810 possible secondary tritipyrum seeds (2n=6x=42, aabbd(0-14) eb(0-14)) were produced. the chromosome constitution and homology index of 11 plants of th...
A case of ring D13 chromosome, confirmed by trypsin banding, is described. Reviewing 21 cases from published reports, the most common features of this syndrome are microcephaly and associated mental retardation, poor uterine growth, deformed auricles, hypertelorism, epicanthus, broad nasal bridge, and genital defects in males.
The major mechanism for ring chromosome formation is thought to result from breakage and reunion at the breakpoints on the long and short arms of a chromosome. This fusion event can produce terminal arm inversions, deletions, and duplications that determine the resulting phenotype.[1] Ring chromosome 13 is relatively uncommon, with an estimated incidence of 1/58,000 live births. Clinical severi...
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