Partial duplication of chromosome 20(pter->q12)

Chromosome: A Possible Partial Duplication

One morphological variant of chromosome 1 in man differs from the more usual form of this chromosome in being longer and more submetacentric. This is due to increased length of the long arm and because there is apposition of chromatids in the paracentromeric region of the long arm (q). This variant, or similar appearing variants ofchromosome 1, have been found in 1 per 100 to 1 per 1000 newborn...

Inherited partial X chromosome duplication in a mentally retarded male.

A mentally retarded male patient with a structurally abnormal X chromosome is reported (karyotype 46, dir dup (X)(p11.2 leads to p21.2)Y). In the normal mother a similar X chromosome duplication was found, which was preferentially inactivated. Xg blood groups were studied in the family. The findings indicated that recombination took place at maternal meiosis, as both karyotypically normal sons ...

Chromosome Duplication (14q) and The Genotype Phenotype Correlation

Partial duplication of the long arm of chromosome 6: a clinically recognisable syndrome.

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...

Chromosome Duplication in Saccharomyces cerevisiae

The accurate and complete replication of genomic DNA is essential for all life. In eukaryotic cells, the assembly of the multi-enzyme replisomes that perform replication is divided into stages that occur at distinct phases of the cell cycle. Replicative DNA helicases are loaded around origins of DNA replication exclusively during G1 phase. The loaded helicases are then activated during S phase ...