ABSTRACT
After treatment of acute leukemia (typically ALL and the monocytic variants of AML), relapse may occur at sites other than the marrow. Isolated extramedullary relapse of acute promyelocytic leukemia (APL) however, is rare. We describe such an event in a man who underwent allogeneic BMT for APL in second relapse and 4 years later presented with testicular relapse. The marrow was morphologically and cytogenetically normal, but RT-PCR analysis revealed the specific PML/RAR chimeric RNA transcript.
Subject(s)
Leukemia, Promyelocytic, Acute/pathology , Testicular Neoplasms/secondary , Adult , Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Bone Marrow Transplantation , Combined Modality Therapy , Humans , Karyotyping , Leukemia, Promyelocytic, Acute/genetics , Leukemia, Promyelocytic, Acute/therapy , MaleABSTRACT
The aim of the present study was to examine a single locus variable number tandem repeat for the purpose of DNA genotyping ("fingerprinting"). DNAs of 175 individuals from five ethnic groups (Black, Chinese, Japanese, Caucasian, and Melanesian) were analyzed. Restriction fragment length polymorphic analysis of random individuals revealed individual specific DNA patterns in all but one group. Among 20 Melanesian inhabitants of the Vanuatu islands in the southwest Pacific, three individuals were found to share a common pattern. This island population represents a "genetic isolate" and illustrates the importance of carrying out population studies on individual ethnic groups of interest. The complexity and the genetic stability of the D1Z2 region as revealed by the probe hMF1 make it an excellent candidate for DNA genotyping in paternity testing as 101 Caucasian individuals each had unique patterns for PstI and SinI digests.
Subject(s)
Chromosomes, Human, Pair 1 , DNA Fingerprinting/methods , Paternity , Polymorphism, Restriction Fragment Length , Repetitive Sequences, Nucleic Acid/genetics , Base Sequence , Blotting, Southern , Cloning, Molecular , Female , Genotype , Humans , Male , Molecular Sequence Data , White People/geneticsABSTRACT
Three cases of partial trisomy 7q are described. One case had duplication of region 7q22.1----q31.2 owing to a de novo direct intra-arm intrachromosomal duplication. The other two cases, first cousins, were trisomic for 7q34----qter, resulting from recombination within the inserted segment of a dir ins(7;17)(q34;q23.1q25.3)mat. All three cases had a number of the already recorded manifestations of partial trisomy 7q, namely strabismus, low set ears, depressed nasal bridge, small nose, hypotonia, and mental retardation.
Subject(s)
Gene Rearrangement/genetics , Trisomy , Adult , Chromosome Banding , Chromosome Mapping , Chromosomes, Human, Pair 7 , Facial Bones/abnormalities , Female , Humans , Infant , Infant, Newborn , Karyotyping , Male , PedigreeABSTRACT
The clastogenic potential of the pine tree fungal toxin dothistromin was studied by metaphase chromosome analysis of stimulated human peripheral blood lymphocytes exposed in vitro. The frequency of gaps, breaks, deletions and exchanges was scored in a series of cultures from 3 different donors. 50 cells were analysed for each dose level on coded slides. Testing was performed with and without added metabolic activation (as S9 mix) and aflatoxin B1 was used as a positive control in all experiments. Dothistromin caused a dose-dependent increase in the frequency of gaps and deletions which was not dependent on added metabolic activation. Even at high doses of dothistromin only a very small number of complex exchange-type aberrations were seen. This is in contrast to aflatoxin B1 where such aberrations were seen at low dose levels and especially in cultures to which S9 mix was added. High doses of dothistromin caused culture toxicity manifesting as haemolysis of the donor red blood cells and reduction of mitotic index. Culture toxicity occurred without a marked increase in aberration frequency. This toxicity may be masking any major potential for clastogenicity by dothistromin.
Subject(s)
Aflatoxins/adverse effects , Anthraquinones/adverse effects , Chromosome Aberrations , Lymphocytes/drug effects , Mutagens , Aflatoxin B1 , Cells, Cultured , Chemical Phenomena , Chemistry , Dose-Response Relationship, Drug , Humans , Metaphase/drug effectsABSTRACT
Two new classes of common fragile site seen in chromosomes from blood lymphocyte cultures are reported. The first class is induced in bands 1q42 and 19q13 by 5-azacytidine (5-AZA). Maximum induction of these fragile sites occurs when the 5-AZA is added 5-8h prior to harvest. The second class is induced in bands 6q13, 9p21, and 10q21 by bromodeoxyuridine (BrdU). In this instance maximum induction occurred if the BrdU was added 4-6h prior to harvest. The known fragile sites, both rare and common, are summarised.
Subject(s)
Azacitidine/pharmacology , Bromodeoxyuridine/pharmacology , Chromosome Fragility , Adult , Chromosome Banding , Chromosome Fragile Sites , Chromosomes, Human, 19-20 , Chromosomes, Human, 6-12 and X , Humans , Infant, Newborn , KaryotypingABSTRACT
A patient with partial trisomy 9q due to material 9/17 translocation was studied and compared with four previously reported cases. The similarity of their clinical features allowed us to delineate a distinct clinical syndrome, which is characterized by psychomotor retardation, dolichocephaly, beaked nose, deep-seated eyes, and long fingers and toes. There is an overlap between some of the features of this syndrome and those of trisomy 9.
Subject(s)
Chromosome Aberrations/genetics , Chromosomes, Human, 6-12 and X , Translocation, Genetic , Trisomy , Chromosome Disorders , Female , Humans , Infant , Infant, Newborn , Intellectual Disability/genetics , Karyotyping , Lymphocytes/ultrastructure , Psychomotor Disorders/geneticsABSTRACT
We report a 5 1/2-year-old girl with a tiny supernumerary chromosome fragment found in mosaic. The ring nature of the tiny fragment was demonstrated by the detection of the characteristic products of a ring chromosome. The clinical consequence of a ring chromosome and the impact of finding a supernumerary chromosome fragment, especially in the practice of prenatal chromosome diagnosis, are discussed.
Subject(s)
Chromosome Aberrations/genetics , Mosaicism , Child, Preschool , Chromosome Banding , Chromosome Disorders , Female , Follow-Up Studies , Humans , Intellectual Disability/genetics , Karyotyping , Lymphocytes/ultrastructure , PhenotypeABSTRACT
A girl with a complex rearrangement of chromosome 9 is reported. She shows the characteristic clinical features of monosomy 9p syndrome. The rearrangement was apparently preceded by four breaks which resulted in a presumptive tiny deletion of the distal end of the short arm, inversion of the rest of this arm and a proven deletion of the secondary constriction region of the long arm. By means of C-banding, it was possible to demonstrate the paternal origin of the rearranged chromosome 9. Finally, it is shown that the region determining the phenotypic expression of monosomy 9p syndrome is seemingly located at band 9p24.
Subject(s)
Aneuploidy , Chromosome Aberrations , Chromosomes, Human, 6-12 and X , Chromosome Banding , Chromosome Deletion , Chromosome Inversion , Female , Humans , Infant , Psychomotor Disorders/genetics , SyndromeSubject(s)
Maple Syrup Urine Disease/diagnosis , Prenatal Diagnosis , Female , Humans , Infant, Newborn , Male , PregnancyABSTRACT
A method for obtaining a combination of differential sister chromatid staining and DNA replication banding is described. Using this method the SCE points can be precisely localized to particular bands of individual chromosomes. It was shown, that SCEs occur not only in the regions of early DNA replication (= euchromatic segments = negative G-bands), but also in the regions of late DNA replication bands (=heterochromatic segments=positive G-bands). SCEs occurred about three times more frequently in the euchromatic segments than in the heterochromatic segments. Furthermore, more SCEs were observed in the early replicating X-chromosome than in the late replicating X-chromosome.
Subject(s)
Chromosome Banding , Crossing Over, Genetic , Sister Chromatid Exchange , Cytological Techniques , DNA Replication , Female , Genetic Techniques , Humans , Staining and LabelingABSTRACT
A method is presented for obtaining a combination of differential sister chromatid staining. G-banding and X-chromosome inactivation pattern. The result of this method enables a precise localization of the sister chromatid exchange points to particular bands of individual chromosomes.
Subject(s)
Chromatids , Chromosome Aberrations , Chromosome Banding/methods , Crossing Over, Genetic , Sex Chromosomes , X Chromosome , Azure Stains , Female , HumansABSTRACT
A woman in a family in which a G group chromosome (No. 21) with deleted short arms (21p-) is present has passed this chromosome to an intellectually deficient son, a normal son, and a daughter with Down's syndrome. Another daughter is chromosomally and phenotypically normal. As in other reports that focus on a concurrence of Gp- chromosomes and Down's anomaly, the possibility is considered that this chromosomal variant may predispose to developmental abnormalities or to non-disjunction, or both.
