نتایج جستجو برای: chromosome duplication
تعداد نتایج: 136802 فیلتر نتایج به سال:
We present a 15 year old boy who was born out of a non consanguineous marriage, and presented with bilateral cryptorchidism, mental retardation, facial dysmorphism, hypergonadotrophic hypogonadism with failure of anatomical and biochemical localisation of testes. Karyotype analysis showed 46 XY with inverted duplication on chromosome 5q22-31.
The chromosomes of Crepis capillaris were labelled with thymidine-2-C(14) in their DNA fraction. Quantitative analysis of the distribution of newly synthesized DNA in postmetaphase stages of the division following the period of label incorporation led to the conclusion that the new DNA is not necessarily equally distributed by the mitotic process and that, therefore, chromosome duplication does...
Reciprocal translocations involving the short arm of acrocentric chromosomes can segregate to produce partial duplications without associated deletions. We present a case of an infant with a 46,XY,-15,+der(15),T(6;15)(q23;p12)pat chromosome complement. The infant had multiple congenital abnormalities including cranial anomalies, facial dysmorphism, anterior webbing of the neck, cardiac anomalie...
Theoretical studies predict X chromosomes and autosomes should be under different selection pressures, and there should therefore be differences in sex-specific and sexually antagonistic gene content between the X and the autosomes. Previous analyses have identified an excess of genes duplicated by retrotransposition from the X chromosome in Drosophila melanogaster. A number of hypotheses may e...
A various types of repeat patterns are abundant in genomic sequence, and are associated with the biological phenomena at distinct levels. In particular, comparative analyses of whole-genome-sized sequence data reveal that the periodic sequences cause the segmental duplication that is a type of chromosomal structural arrangement [2]. In this study, we analyze the relationships between the large-...
Interstitial duplication within the long arm of chromosome 20 is an uncommon chromosome structural abnormality. We report here the clinical and molecular characterization associated with pure 20q13.2 duplication in three unrelated patients. The most frequent clinical features were developmental delay, facial dysmorphism, cardiac malformation and skeletal anomalies. All DNA gains occurred de nov...
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