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MECP2 duplication syndrome (MDS) is an X-linked neurodevelopmental disorder characterized by a severe to profound intellectual disability, early onset hypotonia and diverse psycho-motor and behavioural features. To date, fewer than 200 cases have been published. We report the clinical and molecular characterization of a Spanish MDS cohort that included 19 boys and 2 girls. Clinical suspicions were confirmed by array comparative genomic hybridization and multiplex ligation-dependent probe amplification (MLPA). Using, a custom in-house MLPA assay, we performed a thorough study of the minimal duplicated region, from which we concluded a complete duplication of both MECP2 and IRAK1 was necessary for a correct MDS diagnosis, as patients with partial MECP2 duplications lacked some typical clinical traits present in other MDS patients. In addition, the duplication location may be related to phenotypic severity. This observation may provide a new approach for genotype-phenotype correlations, and thus more personalized genetic counselling.

Objective To present a case of premature ovarian failure (POF) and a complex chromosomal rearrangement involving band Xq21. Design Case report. Setting Department of cytogenetics, general analysis laboratory. Patient(s) A woman with POF and a complex translocation involving chromosomes X and 2 and a nucleolus organizer region (NOR) structure inserted in the critical region Xq21. Intervention(s) Chromosomal analysis, NOR banding, hysteroscopy. Main Outcome Measure(s) Fluorescence in situ hybridization, comparative genome hybridization, human androgen receptor gene technique. Result(s) Four mechanisms may explain a causal relationship between the phenotype of the patient and her chromosome constitution. The presence of a NOR structure at the breakpoint of chromosome X suggests a complex reorganization and is of interest per se. Conclusion(s) Cytogenetic analysis is essential in women with unexplained POF and may provide valuable information on the chromosome location of critical regions implicated in ovarian function. However, in very complex reorganizations such as that described herein, classical cytogenetic techniques must be combined with molecular techniques to achieve a more complete characterization of the anomaly.

Autologous stem cell transplantation is a therapeutic option for chronic myeloid leukemia (CML) patients who are not candidates for allogeneic transplant. To reduce the risk of post-autografting disease recurrence, different strategies of stem cell selection have been attempted. The results of using recombinant human granulocyte colony-stimulating factor (rHuG-CSF) for harvesting hematopoietic progenitors in CML patients treated with interferon-a (IFN) are reported.Twenty-one CML patients who received IFN for a median of 21 (8-68) months were mobilized with rHuG-CSF (10 mg/kg/day). Twelve were in complete (CCR) or major (MCR) cytogenetic response. Complete success was considered a sufficient harvest (1 x 10(6)/kg CD34(+) cells/kg) without Philadelphia (Ph)+ metaphases in at least one apheresis; a partial success was a sufficient harvest with 1-35% Ph(+) cells.A total of 78 aphereses were performed. No patient had major side-effects. The median number (range) of mononuclear and CD34(+) cells obtained was, respectively, 8.6 x 10(8)/kg (0.9-22.6) and 3.3 x 10(6)/kg (0.4-26.3) per patient. A sufficient cell yield was collected in all but three patients. A complete/partial success was achieved in seven CCR/MCR patients (63%) and in three (33%) with other responses. Four patients underwent successful autografting using the stem cells obtained after rHuG-CSF mobilization.Mobilization of IFN-treated patients using rHuG-CSF is safe and provides a significant proportion of Ph-negative progenitors in CML patients in complete or major cytogenetic response.