A 4 year 3 month old boy with insulin dependent diabetes mellitus (IDDM), autoimmune thyroiditis, slight mental retardation, facial dysmorphism, and a de novo ring chromosome 18 (deletion 18q22.3-18qter) is described. This unique association of defects could represent a chance association. Alternatively, the clinical features could be the result of the chromosomal aberration. If so, one could s...

We report two patients whose karyotype revealed an additional segment 1q inserted into an inverted chromosome 4. The patients were partially trisomic for the region 1q24----1q41, karyotype 46,XY or XX, inv ins(4;1)inv(4)(q28;q24q41)(p15 . 3q28), while in the mother the chromosomal aberration was balanced. The inserted segment was inverted. In six patients from three other families with insertio...

Cytogenetic data were studied in 26 patients with de novo acute myeloid leukemia (AML) with minimal myeloid differentiation, corresponding to the MO subtype of the FrenchAmerican-British classification, in correlation with cytoimmunologic and clinical findings. Clonal abnormalities were detected in 21 cases (80.7%). 12 of which had a complex karyotype. Partial or total monosomy 5q and/or 7q was...

A total of 150 infertile couples underwent chromosome analysis and genetic counselling before intracytoplasmic sperm injection (ICSI). Chromosomal abnormalities, including low-level sex chromosome mosaicism, were detected in 12% of the men and an unexpectedly high 6% of the women. Chromosomal abnormalities included gonosomal mosaicism in 13 cases, Robertsonian translocations in four males, auto...

Hybrid cell lines, derived from fusion of rodent cells with peripheral leukocytes from patients with chronic myeloid leukaemia (CML) and from normal donors, were assayed for the present of CML-associated changes in the carbohydrate moieties of membrane glycoproteins. Expression of this characteristic phenotype did occur in several hybrid clones derived from fusions both with leukaemic and norma...

Hypogonadotropic hypogonadism (HH) was diagnosed in a 22-year-old patient with 46,XY,inv(10) karyotype. It may be associated with some gene mutations of chromosome X, (KAL-1: Kallman syndrome; and DAX-1: congenital adrenal hypoplasia), as well as of certain autosomes, including chromosome 10. This study aimed to: (1) elucidate the aetiopathogenesis of the disease in the studied case: (2) diagno...

Astronauts' lymphocytes taken from post-flight blood samples often show increased levels of chromosome aberrations [1]. CA can be used for risk estimation [2], since specific aberrations are strongly correlated with some cancer types [3]. Furthermore, particular aberration categories can be regarded as biomarkers of the radiation quality [4,5]. Modeling approaches based on track-structure simul...