Fragility and spiralization anomalies of the chromosomes in three cases, including fraternal twins, with Fanconi's anemia, type Estren-Dameshek.

Abstract

Fraternal twins, offspring of consanguineous parents, developed pancytopenia, the boy at 7, the girl at 12 years of age. A third patient became anemic at 3 years. All three are free of associated malformations. In blood cultures the incidence of chromatid breaks, exchanges, and chromosome-type aberrations was elevated to 24%, 18%, and 28%, respectively. In addition, in a low number of mitotic cells unusual observations, pointing to profound disturbances of chromosome structure, were made. It is suggested that these patients have a genetic defect impairing the normal process of mitotic chromosome condensation and decondensation.

• Authors: W Schmid, G Fanconi
• Journal: Cytogenetics and cell genetics (Cytogenet Cell Genet) Vol. 20 Issue 1-6 Pg. 141-9 ( 1978) ISSN: 0301-0171 [Print] Switzerland
• PMID: 648172 (Publication Type: Case Reports, Journal Article)

Topics

• Adolescent
• Anemia, Aplastic (genetics)
• Child, Preschool
• Chromosome Aberrations
• Consanguinity
• Diseases in Twins
• Fanconi Anemia (genetics)
• Female
• Humans
• Male