Bone marrow chromosomes in Fanconi's anaemia.

Constitutional aplastic anaemia: a family with a new X linked variety of amegakaryocytic thrombocytopenia.

A family is described in which three male members died in early infancy with severe thrombocytopenia and a fourth in adolescence with aplastic anaemia. One child was investigated in detail and shown to have amegakaryocytic thrombocytopenia, progressing to pancytopenia as a result of bone marrow hypoplasia. His associated congenital abnormalities differed from those described in Fanconi's aplast...

Down's syndrome with an atypical G-G translocation derived from familial pericentric inversion in one chromosome of the G group.

In a young male with Fanconi's anaemia, 10% of cells in a direct bone marrow preparation had chromosome abnormalities. Breaks involving primarily groups B and C members constituted the most frequent changes encountered, while 2 cells had either a dicentric or a ring chromosome. Smears from the same aspirate showed anaphase bridges in 3oo of mitoses. It is suggested that in this disease chromoso...

Fanconi's anaemia: report of a patient with significant chromosomal abnormalities in bone marrow cells.

Fanconi's anaemia and related bone marrow failure syndromes.

The inherited bone marrow (BM) failure syndromes are a heterogeneous group of disorders characterized by BM failure, usually in association with one or more somatic abnormalities. The BM failure may present at birth or at a variable time thereafter including in adulthood in some cases. Over the last decade, there have been significant advances in the genetics of these syndromes particularly Fan...

The bone marrow in aplastic anaemia: diagnostic and prognostic features.

Bone marrow preparations were examined from 80 patients with aplastic anaemia. The degree of cellularity varied greatly and in a third of the cases it was normal or even hypercellular at one site of aspiration. In the severely hypoplastic marrows lymphoid cells were predominant and this situation was associated with a worse prognosis. There was no correlation between marrow lymphoid cell conten...

Sister chromatid exchange in dyskeratosis congenita lymphocytes.

Sister chromatid exchange (SCE) frequency in chromosomes from lymphocytes of a patient with dyskeratosis congenita was 12-2 per mitosis. Our 33 normal controls had a mean of 5-4 SCE per mitosis and 5 patients with Fanconi's anaemia averaged 7-6 SCE per mitosis. The rate of chromosome breakage was only 0-5% in the dyskeratosis congenita patient and 0 to 2-5% in controls, while the Fanconi's anae...