The Ehlers-Danlos syndrome (EDS) is a heterogeneous group of inherited connective tissue disorders in which cutaneous fragility and ligamentous laxity often combine with vascular, gastrointestinal, and skeletal deformities. There is considerable phenotypic overlap between the more common forms of EDS (types I and II), in which specific molecular defects have not yet been identified. Recently, genetic linkage has been demonstrated between the COL5A1 gene, which encodes the alphal chain of type V collagen, and EDS type II in a large British kindred. Using a polymorphic intragenic simple sequence repeat at the COL5A1 locus, we now demonstrate tight linkage to EDS type I/II in a three-generation family, giving a LOD score (log10 of the odds for linkage) of 4.07 at zero recombination. The variation in expression in this family suggests that EDS types I and II are allelic, and the linkage data support the hypothesis that mutation in COL5A1 can cause both phenotypes.

Human papillomavirus type 16 (HPV-16) is strongly associated with carcinoma of the cervix, but the complete life cycle of the virus cannot be studied because no experimental system is available in which HPV-16 progeny are produced, and there is currently no source of HPV-16 virus particles. Most cell lines that harbor HPV-16 DNA contain the viral genome as integrated or concatenated DNA in which open reading frames are disrupted or deleted, but a human cervical keratinocyte cell line has been described which maintains HPV-16

A 5-year-old boy with Down's syndrome presented with a brief history of cough, fever and lethargy. The white cell count was elevated at 133 · 10 9 /l, haemoglobin concentration was 11AE9 g/dl and the platelet count was 89 · 10 9 /l. A Romanovsky stained blood film (top) showed 95% blast cells, which appeared lymphoid except for the presence of azurophilic intracytoplasmic inclusions that resembled the granules of myeloblasts. The bone marrow aspirate showed 96% blast cells. Again these appeared lymphoid but for the presence of the cytoplasmic inclusions. Flow cytometry showed the blast cells to be precursor B cells (CD10, 19, 34, 79a, terminal deoxynucleotidyl transferase positive). There was no expression of myeloid-associated antigens (CD13, 33, 117, myeloperoxidase). A diagnosis of precursor B-cell acute lymphoblastic leukaemia (ALL) was made. Electron microscopy (bottom)showed abundant mitochondria but no other cytoplasmic organelles or granules. Cytoplasmic inclusions and Auer rod-like structures have occasionally been observed in ALL with an estimated frequency of around 2% of cases. Different authors have drawn different conclusions as to their origins; viral inclusion particles, lysosomal-derived structures and dysplastic mitochondria have been proposed. Here, electron microscopy clearly demonstrated that the inclusions in this case were mitochondria.