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Biomedical subjects

C M Moore

Publications and source records attributed to C M Moore.

At least 127 records · Page 7Linked to original sources
PubMed1984

Reproduction in XYY males: two new cases and implications for genetic counseling.

We present two children--one, 47,XY, + mar, and the other, 47,XY, + 21. Both fathers were found to have a 47,XYY chromosome constitution. The initial assumption was that the fathers' aneuploid conditions contributed to those of the offspring. However, the derivation of the marker chromosome could be paternal, maternal, or postzygotic, and examination of polymorphic structures of the number 21 chromosomes of the child with Down syndrome and his parents suggested maternal derivation of the supernumerary 21. To explore further the reproductive risks of an individual with the XYY constitution, previous reports of reproductive performance and testicular histology are examined as are two theories which suggest XYY males may be at an increased risk of producing aneuploid progeny. Based on these reports, recommendations are made for testing XYY males prior to genetic counseling.

Aneuploidy↗
PubMed1984

Enhancement of rat ACT-1 tumor clonogenicity by xenogeneic mouse macrophages.

In vitro growth of rat atriocaval epithelial tumor cells (ACT-1) was enhanced by the inclusion of xenogeneic mouse adherent peritoneal exudate cells (PECs) in a two-layer soft agar system. A linear relationship was found between the number of cells plated and the number of colonies when ACT-1 tumor cells were plated at plating densities of between 1 and 5 X 10(5) cell/60 mm plate (r = 0.9, P less than 0.001). Inclusion of irradiated PECs in the bioassay for tumor stem cells resulted in a two and a half-fold increase in colony formation in three separate experiments (P less than 0.001).

Animals↗
PubMed1984

Human transferrin: cDNA characterization and chromosomal localization.

Transferrin (Tf) is the major iron binding protein in vertebrate serum. It shares homologous amino acid sequences with four other proteins: lactotransferrin, ovotransferrin, melanoma antigen p97, and HuBlym-1. Antigen p97 and the Tf receptor genes have been mapped on human chromosome 3. The goal of the study described here was to initiate the characterization of the Tf gene by identifying and characterizing its cDNA and mapping its chromosomal location. Recombinant plasmids containing human cDNA encoding Tf have been isolated by screening an adult human liver library with a mixed oligonucleotide probe. Within the 2.3 kilobase pairs of Tf cDNA analyzed, there is a probable leader sequence encoded by 57 nucleotides followed by 2037 nucleotides that encode the homologous amino and carboxyl domains. During evolution, three areas of the homologous amino and carboxyl domains have been strongly conserved, possibly reflecting functional constraints associated with iron binding. Chromosomal mapping by in situ hybridization and somatic cell hybrid analysis indicate that the Tf gene is located at q21-25 on human chromosome 3, consistent with linkage of the Tf, Tf receptor, and melanoma p97 loci.

Amino Acid Sequence↗
PubMed1984

Trisomy 7 and Potter syndrome.

A patient with mosaic trisomy 7 and features of Potter syndrome is described. The patient was the product of a 35-week gestation and survived fourteen hours, demise being attributed to respiratory insufficiency. Autopsy confirmed pulmonary hypoplasia and renal agenesis. Additional findings included malformed, low-set ears, a flattened nasal bridge, redundant nuchal skin, positional deformation of the extremities, rocker-bottom feet, and clitorimegaly. Cytogenetic study of peripheral blood and skin fibroblast culture revealed mosaicism for full trisomy 7, the skin showing 12% of the cells to have an extra 7. Comparison with one previously confirmed case of trisomy 7 and two cases of trisomy C suggests a correlation between trisomy 7 and Potter syndrome.

Abnormalities, Multiple↗
PubMed1983

Human antibody-dependent cellular cytotoxicity and natural killer cytotoxicity to herpes simplex virus-infected autologous and allogeneic cells.

Using cultured skin shavings, human cellular cytotoxicity to uninfected and herpes simplex virus (HSV)-infected autologous and allogeneic fibroblasts and Chang liver cells was analysed in a 51Cr release assay. The effector cell requirements and characterization, time kinetics and antibody requirements were similar using each HSV-infected target cell in an antibody-dependent cellular cytotoxicity (ADCC) system. There was lower natural killer cytotoxicity (NKC) to uninfected autologous cells than unrelated cells in an 18 hr assay. NKC to infected autologous and unrelated fibroblasts was similar to that mediated against Chang liver cells. Thus NKC to uninfected fibroblasts correlated with the relationship of effector and target cells while NKC to infected cells correlated with the intrinsic lytic potential of the effector cells. The autologous system offers little advantage in the analysis of ADCC or NKC in normal individuals to virus-infected cells, but is probably crucial for the detection of HLA-restricted T-cell cytotoxicity. The demonstration of autologous anti-viral ADCC and NKC lends further credence to the in vivo importance of the mechanisms.

Antibodies↗
PubMed1980

Pseudo-drumsticks in granulocytes of a male with a Yqh+ polymorphism.

An individual with normal male habitus, body proportions, and secondary sexual characteristics was admitted to the hospital with head trauma. A routine blood smear demonstrated that 36% of the granulocytes had "drumsticks". Chromosomal analysis revealed a 46,XYqh+ karyotype. the extremely large Y chromosome was located by quinacrine fluorescence in the "drumstick" of the polymorphonuclear granulocytes. The presence of a large Y chromosome may thus produce pseudo-drumsticks. Fluorescent staining can distinguish between true drumsticks bearing the inactive X of normal females and the pseudo-drumsticks in a normal male produced by a large Y chromosome.

Adult↗
PubMed1977

Rapid karyotypic diagnosis of a case of trisomy 18 in the neonatal intensive care unit.

Recent modifications in the technic of bone marrow preparation for karyotypic analysis permit confirmation of chromosomal aneuploidy such as trisomy 13, 18, or 21 within two to four hours. The patient reported illustrates how the technic of bone marrow karyotyping may assist the pediatrician in treating an acutely ill newborn, in accurately counseling parents, and in selecting with them an appropriate course of management.

Abnormalities, Multiple↗
PubMed1977

A case of double trisomy in a liveborn infant: 48, XXY, "13.

Ambigouous genitalia, microcephaly, microphthalmia, hyoptelorism, single choanal opening, low-set ears, simian creases, Tetralogy of Fallot, bilateral hydronephrosis, and absence of the left ureter characterized an infant the died 1 hour postpartum with the karyotype 48,XXY,+13.

Abnormalities, Multiple↗
PubMed1975

Trisomy-18 mosaicism with features of Russel-Silver syndrome.

A child is described who presented at 16 months with developmental delay and clinical features of the Russell-Silver syndrome. Chromosome analysis revealed trisomy-18 mosaicism. Only one other similar case has been reported in the literature. It is recommended that chromosomal studies continue to be included in the clinical investigation of children with Russell-Silver syndrome.

Abnormalities, Multiple↗