We report on a 21 month old child referred to us because of facial dysmorphism and psychomotor retardation. The patient's phenotype was characterised by a wide and receding forehead, broad nasal bridge, redundant retronuchal skin, low set and poorly shaped ears, micrognathia, and small hands and feet. High resolution R and G banding karyotype analysis of peripheral blood lymphocytes showed an i...

Dear Editor Aberrations of the human chromosome 1 are common in hematologic malignancies such as multiple myeloma, myeloproliferative disorders, and myelodysplastic syndrome, highlighting their significance in carcinogenesis [1]. The isochromosome 1q [i(1)(q10) or i(1q)] is a distinctive structural chromosomal abnormality in hematologic malignancies [2], especially in childhood Burkitt lymphoma...

Specific cytogenetic clones might distinguish patients with unrecognized Fanconi anemia (FA) who present with acute myeloid leukemia (AML) from those with sporadic AML. Cytogenetic reports in literature cases of FA and AML were compared with de novo cases enrolled on CCG-2961. Gain of 1q, gain of 3q, monosomy 7, deleted 7q, gain of 13q, and deleted 20q were more frequent in FA AML; t(8;21), tri...

esults: Significant linkage for P3 amplitude was observed on chromosome 7q for the central recording site (logarithm-of-odds [LOD] .88, p .00002) and in the same region for both frontal (LOD 2.19, p .0015) and parietal (LOD 1.67, p .0053) sites, with multivariate nalysis also identifying linkage in this region (LOD 2.14, p .0017). Suggestive linkage was also identified on 6p (LODmax 2.49) and 1...