Sylvia F. Pan

Human Leukemic Cells: In vitro Growth of Colonies Containing the Philadelphia (Ph1) Chromosome

Human leukemic cells with a marker (Philadelphia; Ph1) chromosome gave rise to granulocytic and mononuclear cell colonies when grown in vitro. All metaphases from a single colony were either Ph1 positive or Ph1 negative. No colonies contained a mixed cell population. This suggests that leukemic and normal cells exist simultaneously and that in vitro colonies are clonal in origin.

Paternal Transmission of Maleness in XX Human Beings

Abstract Phenotypic maleness was observed in a 7 1/2-year-old child and his father with an XY karyotype. Two brothers and a paternal uncle were found to have an XX sex-chromosome constitution. The ...

Induced acute non-lymphocytic leukemia following long-term chemotherapy. A study of 20 cases

Twenty individuals developed acute non‐lymphocytic leukemia (ANLL) following long‐term chemotherapy for other disorders. The primary disorders included non‐Hodgkins lymphoma (five), Hodgkins disease (five), carcinoma (four), multiple myeloma (three), chronic lymphocytic leukemia (two), and rheumatoid arthritis. Leukemia developed from 11–132 months (mean approximately 60 months) following institution of chemotherapy and all cases have occurred since 1974. Pre‐leukemic cytopenias were present in 15 individuals. Fifteen of the 20 patients had chromosome analyses and 14 were abnormal. The leukemia was invariably refractory to chemotherapy with a median survival of only two months. Of the patients autopsied, only one individual had any evidence of the primary malignancy. This study illustrates the need for surveillance for secondary ANLL following long‐term chemotherapy with/ without radiotherapy. Duration of optimal chemotherapy for the primary disease must be determined by control trials and weighed against the risk of developing a secondary leukemia.

Meiotic consequences of an intrachromosomal insertion of chromosome No. 1: a family pedigree

In three generations of the probands patrilineal relatives, 14 subjects were found to be carriers of a “shift” insertional chromosome No. 1 (46, XX or XY, ins(1)(p32q25q31)). The proband and three female relatives, who were mild to moderate mental retardates with minor congenital anomalies, were trisomic for the insertional segment, (1)q25q31. Another subject, who was a markedly immature female abortus with congenital abnormalities, was found to be monosomic for this same chromosomal segment. The cytogenetic evidence suggests that each of these unbalanced recombinant progeny was the result of a single crossing over in the noninsertional loop of a paternal pachytene bivalent of the balanced insertional chromosome No. 1.

Trisomy of chromosome 20

A neonate with unusual facial features and multiple congenital malformations expired at 4 hours of age. An autopsy revealed severe anomalies of the gastrointestinal system and spinal dysplasia. Cytogenetic evaluation of fibroblasts cultured from a lung biopsy revealed a karyotype of 47, XX,+20.

Monosomy of chromosome No. 22 A case report

1. Krivit, W., and Good, R. A.: Simultaneous occurrence of mongolism and leukemia, Am. J. Dis. Child. 94: 289, 1957. 2. Miller, R. W.: Neoplasia and Downs syndrome, Ann. N. Y. Acad. Sci. 171: 637, 1970. 3. Holland, W. W., Doll, R., and Carter, C. O.: The mortality from leukemia and other cancers among patients with Downs syndrome (mongols) and among their parents, Br. J. Cancer 16: 177, 1962. 4. Foley, J. F., and Lemon, H. M.: Downs syndrome associated with an intracranial rhabdomyosarcoma and relative hypopituitarism, Nebr. State Med. J. 53: 384, 1968.

A patient with a 47, XXY,5p‐ karyotype

A case is reported of a liveborn with the karyotype 47, XXY,5p ‐. This is the first known case of a liveborn with apparently both Klinefelter and Cri du Chat syndromes.

Chromosome aberrations reduced in whole-body irradiated mice by pretreatment with cyanide

Male mice exposed to single, whole-body 60Co irradiation, were injected intraperitoneally with a non-toxic dose of KCN, 2 min or 20 min prior to irradiation. Bone-marrow cells were examined for chromatid breaks and chromosome aberrations (CA) at different times post-irradiation. The 2 min but not the 20 min treated mice had a marked reduction in chromatid breaks and chromosome aberrations. A study was made of mice exposed to 3.0 Gy (1.8 Gy/min), treated with KCN 2 min prior to irradiation and examined 5 min to 30 d post-irradiation. After 5 min there were no significant changes in frequency of CA. Subsequently, the incidence of CA in the KCN-treated group was reduced compared to the irradiated controls. By the 30th day, however, CA frequencies had returned to control levels in all groups. No effect of KCN treatment was observed in the white or red blood cells. The cytogenetic results were posited to be a function of the relative inhibition and recovery times of cyanide affected cytochrome oxidase, DNA synthesis, and ATP.