Differential staining of human chromosomes

Contains fulltext : mmubn000001_236061682.pdf (publisher's version ) (Open Access)Promotores : S. Geerts en P. Pearson120 p

Unique mosaicism of structural chromosomal rearrangement: is chromosome 18 preferentially involved?

The mentally normal mother of a 4-year-old boy with del(18)(q21.3) syndrome was tested cytogenetically to study the possibility of an inherited structural rearrangement of chromosome 18. She was found to carry an unusual mosaicism involving chromosomes 18 and 21. Two unbalanced cell lines were seen as derivatives of a reciprocal translocation t(18;21), resulting in mosaicism of two cell lines, one with partial monosomy 18q and one with partial trisomy 18q. A literature review revealed that mosaicism of two or more cell lines with different unbalanced structural aberrations is extremely rare; moreover, chromosome 18 appeared to be involved in the majority of cases. We discuss possible mechanisms for the origin of this distinctive chromosomal constitution

Variegated aneuploidy related to premature centromere division (PCD) is expressed in vivo and is a cancer-prone disease.

Item does not contain fulltextWe present three patients with variegated aneuploidy and premature centromere division (PCD), a rare chromosomal abnormality in humans. Comparison of these three and eight other patients with variegated aneuploidy related to PCD demonstrates a phenotype comprising most frequently microcephaly, CNS anomalies (with cerebellar affection and migration defects), mental retardation, pre-and postnatal growth retardation, flat and broad nasal bridge, apparently low-set ears, eye and skin abnormalities, and ambiguous genitalia in male patients. The occurrence of Wilms tumor in three patients, rhabdomyosarcoma in two others and acute leukemia in a fifth characterizes this condition as a chromosome or genome instability disorder with a high risk of malignancy. FISH studies in uncultured blood and buccal smear cells demonstrate that the random aneuploidies are not limited to cultured cells, but also occur in vivo

Subfertile men with constitutive chromosome abnormalities do not necessarily refrain from ICSI treatment: a follow-up study on 75 Dutch patients

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