Inherited partial duplication of chromosome No. 15

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: 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 pericentric inversion of a group D (13-15) chromosome.

Directly inherited partial trisomy of chromosome 6p identified in a father and daughter by chromosome microdissection.

Cytogenetic analysis of a 4 year old girl with developmental delay and dysmorphic features showed extra chromosomal material of unknown origin on 20p (46,XX,add(20)(p13)). Familial chromosome studies showed direct inheritance of add(20)(p13) from the father, who had a similar, albeit milder, phenotype. Fibroblast chromosome studies of the father showed no karyotype mosaicism. The additional mat...

Inherited tandem duplication of the X chromosome: dup(X)(q13.2-q21.2) in a family.

A 2-year-old boy who was failing to thrive and who had multiple anomalies was found to have a maternally derived tandem duplication of the long arm of the X chromosome: dup(X)(q13.2-q21.2). The karyotyping interpretation was further confirmed by fluorescence in situ hybridization studies in which a double gene dosage of the X-inactivation-specific transcript (gene locus on Xq13.2) and a whole c...