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Journals and Conferences
A duplication of the sub-bands 1q42.11 and 1q42.12 was found in a boy and his mother. The proband has short stature (around the 10th centile) but a normal phenotype and psychomotor development. His mother is also asymptomatic. We found 30 published cases of normal subjects with an imbalance of autosomal euchromatic material. In these cases the imbalance… (More)
The parental origin of the de novo deleted chromosome 4 was studied in five cases of Wolf-Hirschhorn syndrome using polymorphic probes mapping in the 4p16.3 region. In all the patients the deleted chromosome was found to be of paternal origin and these results, together with similar ones obtained by another group, make the preferential paternal origin of… (More)
A pericentric inversion of chromosome 4 with identical breakpoints (p15.2q11) has been found in two unrelated families. The presence of the inversion in three generations was observed but no recombinants have been recognized. In order to provide appropriate genetic counselling, segregation data and possible reproductive risk are discussed.
This report concerns 2 unrelated patients with apparent CHARGE association and a chromosome abnormality, resulting from different unbalanced familial translocations involving chromosomes 2 and 18 in one family, and chromosomes 3 and 22 in the other. Although the identification of two different chromosome abnormalities might be due to chance, the observation… (More)
Agenesis of the corpus callosum (ACC) is a relatively common brain abnormality resulting from developmental defects either limited to the structures leading to the proper formation of the corpus callosum or involving the embryo forebrain more generally. ACC is genetically heterogeneous with autosomal dominant, autosomal recessive, and X linked inheritance… (More)
BACKGROUND The purpose of this study was to evaluate the gender ratio and incidence of chromosomal anomalies in the products of conception (POC) from recurrent miscarriages. METHODS We determined the karyotypes of POC from patients with recurrent spontaneous miscarriages between 1999 and 2009. RESULTS In total, 313 specimens were successfully… (More)
The Authors present a case of acute myeloblastic leukemia secondary to a busulfan and splenic radiotherapy treated idiopathic myelofibrosis. The presence of D group complex chromosomal abnormalities could be responsible for the simultaneous massive Pelger anomaly of granulocytes.