ABSTRACT
We report a case of Richter transformation of a chronic lymphocytic leukemia with a 12q13 translocation involving the HMGI-C gene. Fluorescence in situ hybridization analysis with the use of two different cosmid pools spanning the entire HMGI-C region showed that the breakpoint on chromosome 12 was located in the HMGI-C gene, presumably within intron 3. In fact, the 3' region of HMGI-C had been translocated to a derivative chromosome 6. This translocation was not visible at the cytogenetic level. Immunohistochemical analysis performed on the bone marrow smear demonstrated the expression of the HMGI-C protein specifically in the blasts, suggesting that the aberrant expression of the HMGI-C gene might have an important role in the process of leukemogenesis.
Subject(s)
Chromosomes, Human, Pair 12 , Chromosomes, Human, Pair 14 , High Mobility Group Proteins/genetics , Leukemia, Lymphocytic, Chronic, B-Cell/genetics , Neoplasm Proteins/genetics , Translocation, Genetic , Female , HMGA2 Protein , Humans , Leukemia, Lymphocytic, Chronic, B-Cell/pathology , Middle AgedABSTRACT
An additional case of interstitial deletion of chromosome 6, the first with breakpoints in q12 and q14, is reported. The female infant was the malformed first child of young, healthy parents. A review of proximal 6q deletions is made.
Subject(s)
Abnormalities, Multiple/genetics , Chromosome Deletion , Chromosomes, Human, Pair 6 , Female , Humans , InfantABSTRACT
A de novo tetrasomy 15 has been reported, in a 6 years old child. The patient had severe mental retardation an minimal physical stigmata, consisting in slight skeletal and facial dismorphism. Cytogenetic analysis showed that extrachromosome, G-like long, was bisatellited and dicentric and was interpreted either as an inversion duplication 15 or as 15; G or D translocation.
Subject(s)
Chromosome Aberrations/genetics , Chromosome Inversion , Chromosomes, Human, 13-15 , Diploidy , Intellectual Disability/genetics , Abnormalities, Multiple/genetics , Child , Chromosome Disorders , Electrocardiography , Humans , Karyotyping , Male , PedigreeABSTRACT
Two cases of t(21q21q)/r[t(21q21q)] mosaic in unrelated infants, 17 and 14 months old respectively are reported. The proportion of cells with the ring chromosome was 45% in the former, 80% in the latter. Both cases had mild manifestations of the Down's syndrome. The origin of this unusual mosaicism as well as the significance of the difference in the proportions of the ring chromosome in the two have been discussed.
Subject(s)
Chromosomes, Human, 21-22 and Y , Down Syndrome/genetics , Mosaicism , Chromosome Banding , Dermatoglyphics , Female , Humans , Infant , Karyotyping , Male , Translocation, GeneticABSTRACT
A case of Aarskog syndrome in a 6-years old boy is reported. The patient showed clinical pictures typical of the syndrome: characteristic dysmorphic facies, palpebral ptosis, brachyfalangism, abnormality of the scrotum. Minimal stigmata and clinodactyly of 5th finger were present in a sister. Isolated bilateral clinodactyly was found in other 4 members of the family. The significance of this sign in the context of the syndrome has been discussed. Unusual dermatoglyphic patterns were present in the proband, mother and sister.
