A malformed girl with duplication of chromosome 9q.

Reported tandem duplication/deletion of 9q is actually an inverted duplication.

A Rare Case of Duplication of Chromosome 2 (q31.3q36.3) in a 4.5-year-old Boy and Review of the Literature

De novo duplication of 2q is very rare. Most cases of 2q duplications result from familial translocations, and are associated with simultaneous monosomy of another chromosome segment. To our knowledge and search in English literature there are less than 20 reported cases of isolated 2q duplication. Hereby we introduce a 4.5-year-old Iranian boy of a non-consanguineous marriage who was referred ...

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...

Chromosome Duplication (14q) and The Genotype Phenotype Correlation

FRAXF in a patient with chromosome 8 duplication.

We report on a folate sensitive fragile site at Xq27-28 in a girl with a multiple congenital anomalies and mental retardation syndrome, who also carries a duplication of the long arm of chromosome 8. The fragile site was shown by FISH to be distal to both FRAXA and FRAXE. DNA hybridisation with probe OxF14 showed the amplification of the CGG repeats of locus FRAXF in the patient and in her clin...