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Biomedical subjects

B Kaiser-McCaw

Publications and source records attributed to B Kaiser-McCaw.

At least 19 recordsLinked to original sources
PubMed1983

Complex cytogenetic findings in acute leukemia.

Although certain types of acute nonlymphocytic leukemia (ANLL) are now characterized by specific chromosome translocations, certain other cases of ANLL elude simple cytogenetic classification. We describe here a case of acute myelomonocytic leukemia with a complex and unusual karyotype picture including double minutes, three definite translocations, two other possible translocations, and additional morphologic and numerical chromosome changes. The three definite translocations were t(2;11), t(2;12), and t(5;15), fitting the criteria of major karyotype abnormalities. These complex and unusual chromosome findings may relate to the rapid course of the disease.

Aged↗
PubMed1983

Acute myeloblastic leukemia (AML) with t(6;9) (p23;q34): a specific subgroup of AML?

A case of acute myeloblastic leukemia (AML) of M2 type in the FAB classification without Auer bodies in the leukemic cells was shown to have t(6;9)(p23;q34) in the marrow cells. Four hematologically similar cases with identical karyotype changes have been published. We propose, in support of others, that this may constitute a subgroup of AML characterized by a translocation between chromosome #6 and #9.

Child↗
PubMed1982

Fragile X-linked mental retardation of macro-orchidism.

A fragile site near the end of the long arm (q) of the X chromosome appears to be directly related to the gene responsible for the mental retardation found among males and some females who possess this variant X chromosome. Macro-orchidism is present in most males studied. Other mild phenotypic similarities may exist. The expression of the fragile X (fra[X]) chromosome is dependent on the concentration of folic acid and thymidine in the culture medium, which partly explains why fra(X) was not noted earlier and connected promptly with X-linked mental retardation. Whereas prenatal diagnosis is now possible, genetic counseling is complicated by recent reports of "intellectually normal" fra(X) males. Further studies are needed to form solid conclusions about intellectual deficits, learning behavior or personality characteristics of fra(X) persons.

Female↗
PubMed1981

Amniocyte clones for prenatal cytogenetics.

Amniotic fluid cells were processed in situ on coverslips in 1,429 consecutive cases from Colorado and Arizona. Two true chromosome mosaics were differentiated from 39 pseudomosaics with clarity by the method described here in detail. The culture failure rate was 1--2% and the error rate was 0% in both laboratories. The time in culture prior to the initial harvest for the last 329 cases was 8.7 days.

Amniotic Fluid↗
PubMed1981

Ataxia-pancytopenia: syndrome of cerebellar ataxia, hypoplastic anemia, monosomy 7, and acute myelogenous leukemia.

In a family with ataxia and pancytopenia, the proband had cerebellar ataxia, developed hypoplastic anemia at age 3 years, and died of acute myelomonocytic leukemia at age 7. Serial cytogenetic studies of the proband's hypoplastic bone marrow over a 25-month period revealed progressive expansion of a clone of cells with C(6 - 12 + X) monosomy from 33% to 94% of metaphases. The missing chromosome by banding was deduced to be No.7. No increased sensitivity of the patient's cells was found in response to ultraviolet or ionizing radiation or to mitomycin C. Cerebellar atrophy was confirmed at autopsy. Family studies revealed cerebellar ataxia in the proband's father and all four siblings. Two brothers, including one with C-monosomy, died with hypoplastic anemia and another brother died with acute myelocytic leukemia. The only surviving sibling is a 19-year-old sister who has unexplained anemia, decreased mitotic activity in bone marrow, and slow progressive cerebellar ataxia. The name ataxia-pancytopenia syndrome is proposed to encourage study of additional patients with this disorder, which predisposes to pancytopenia and acute leukemia.

Adult↗
PubMed1980

The use of sequential silver and quinacrine staining to determine the parental origin and breakpoints of a ring-22 human chromosome.

We delineated a G-ring syndrome in 1968 and suggested it was due to a ring-22 (Weleber et al. 1969). We confirmed in 1972 that the ring was derived from chromosome 22 (Magenis et al. 1973). The present report constitutes a new case of the ring-22 syndrome with clinical findings virtually identical to those we described earlier. By sequential staining techniques with silver and quinacrine, it was possible to determine the parental origin of the ring (maternal) and to estimate the breakpoints in the chromosome 22 (22p12 and 22q13) leading to the ring configuration. The clinical abnormalities are due to terminal deletion of 22q distal to the breakpoint in band 22q13. The silver technique, especially in sequence with other stains, provides new and useful data concerning the origin and precise cytology of this, one of the tiniest rings known in humans.

Abnormalities, Multiple↗