A female infant with total monosomy 21 identified by Q banding is described. The main clinical features were hypertonia, prominent occiput, hypertelorism, antimongoloid slant of the eyes, broad nose, "antimongoloid", character of dermatoglyphics. Both parents are phenotypically as well as karyotypically normal.
An infant with a typical Edwards syndrome and a modal chromosome number of 46 is reported. In all cells analyzed one chromosome G was missing and an additional chromosome similar to a pair No. 16 was present. The phenotype of the child indicates that the extra element is a translocation between G and 18 chromosomes as in one case described previously.
years. The cause of a low absolute neutrophil count (ANC) was autoimmune neutropenia in 37 patients, 31 had chronic idiopathic neutropenia, 27 had infectious neutropenia, 3 had cyclic neutropenia, while 2 were diagnosed with alloimmune neonatal neutropenia. The mean value of ANC at presentation was 732/mm3, and the mean lowest ANC detected during disease course was 600/mm3. Among the 5 diagnostic subgroups, both values were the lowest in patients with cyclic neutropenia in which mean ANC at presentation was 420/mm3 and mean lowest ANC detected during disease course was 180/ mm3.Granulocyte colony-stimulating factor (GCS-F) was given to only 3 patients, whose mean ANC at presentation was 140/ mm3. Besides the laboratory finding of persistent severe neutropenia, all 3 patients were prone to recurrent infections. Twenty-three patients had additional cytopenia, out of which 4 had pancytopenia, 13 had anemia and 6 patients had thrombocytopenia. Among patients with additional cytopenia, 5 had positive anti-granulocyte antibodies (21.7%). The mean time to disease resolution was 10.2 months, being the longest in the cyclic neutropenia subgroup, while patients with infectious neutropenia mainly recovered after 21.3 days. The mean follow-up time was 1.6 years.According to data from our Department, neutropenia is most commonly diagnosed in pre-school children, boys being more frequently affected than girls. More than one third of patients have positive anti-granulocyte antibodies. However, the condition is usually benign, it resolves mainly spontaneously in less than a year, and patients generally do not require G-CSF.
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