Nataline Kardon

Cytogenetic findings in the dysmyelopoietic syndrome.

Cytogenetic studies of bone marrow specimens from 15 patients with dysmyelopoietic syndrome are presented. The group consists of nine patients with refractory anemia with excess of blasts (RAEB), three patients with chronic myelomonocytic leukemia (CMMoL), and three patients with acquired idiopathic sideroblastic anemia (AISA). None of these patients had a prior history of therapeutic or occupational exposure to potential carcinogenic agents. G(TG)‐banding revealed clonal abnormalities in nine of the 15 patients. Five of these patients exhibited one or more of the following cytogenetic abnormalities: 5q deletion, −7, +8, or +21. The AISA group appeared to be unique as chromosome abnormalities were seen in two of the three patients and the clinical course in these patients has been prolonged without progression to acute leukemia. No other clinical correlations could be made in the blast RAEB and CMMoL groups, except for possible survival benefit in patients with normal karyotypes.

Incidence of chromosomal rearrangements in couples with reproductive loss

SummaryWe report on 50 couples with reproductive loss who did not have any detectable chromosome abnormality. A history of a previous child with multiple congenital abnormalities may be significant in identifying couples with a structural rearrangement. Only by studying more families can this hypothesis be tested. Studies of abortus tissue reveal a high percentage of chromosome abnormalities but a very low incidence of unbalanced translocations. Cytogenetic studies are indicated in a couple which has a past history of spontaneous abortions and a previous child with multiple congenital anomalies.

Acquired idiopathic sideroblastic anemia: A new chromosomal abnormality

We describe two patients with acquired idiopathic sideroblastic anemia and a terminal deletion of chromosome No. 11. In spite of the marked chromosomal abnormality neither patient has developed acute leukemia.

Prenatal diagnosis of trisomy 20 mosaicism.

Three cases of trisomy 20 mosaicism in amniotic fluid cell cultures are described. Two of the pregnancies resulted in normal full‐term infants. The third pregnancy was terminated and revealed a phenotypically normal fetus. A review of five previously reported cases is presented. Explanations of these findings include in vitro nondisjunction, culture of extraembryonic tissue, and true fetal mosaicism. The diagnostic dilemma this presents is discussed.

Childhood acute lymphoblastic leukemia associated with an unusual 8;14 translocation

An 8;14 chromosome translocation with the break points t(8;14(q11;q32) is described in bone marrow cells of a patient with null cell terminal deoxynucleotidyl transferase (TdT)-positive acute lymphoblastic leukemia. The patient, who is dysmorphic and mentally retarded, ha a normal 46,XY constitutional chromosome karyotype. A review of the more usual cytogenetic findings in this type of leukemia and a comparison of B-cell lymphoproliferative cytogenetic associations are presented.

Burkitt's leukemia: A re‐evaluation

Two patients who presented with acute leukemia of Burkitts cell type are discussed. Although one patient died within four months of diagnosis, the other has maintained a one year clinical complete remission. The clinical and morphologic picture of Burkitts leukemia is nonspecific and therefore requires complementary studies including cytochemistry, transmission electron microscopy, cell surface markers and cytogenetics studies to establish a diagnosis. Serial bone marrow aspirations with marker analyses may detect relapse at an earlier stage than conventional cytology, allowing therapy to be modified prior to overt clinical relapse.

Association of Monosomy 7 with Myelodysplasia Following Chemotherapy for Hodgkin's Disease: Serial Observations

Myelodysplasia and acute nonlymphocytic leukemia following therapy for Hodgkins disease are observed rather frequently. Herein, we describe a patient with this syndrome treated with prolonged chemotherapy (alone), having a monosomy 7 karyotype. Cytogenetic studies were performed serially during the myelodysplasia preceding overt leukemia. Review of the literature and relevance of these findings are discussed.

De novo duplication of the 7q11 leads to q22 region.

A patient with de novo partial trisomy for the 7q11 leads to 7q22 region as defined by methotrexate high resolution banding is described. he presented with delayed growth and development and characteristic physical features. These consisted of frontal bossing, prominent metopic suture, almond shaped eyes, enophthalmos, large, low set, posteriorly rotated ears, long philtrum, narrow upper lip, high arched palate, and a short neck. Specific genitourinary anomalies were noted.

A complex variant Philadelphia (Ph1) chromosome translocation involving chromosomes No. 11, 14, and 22 in a case of chronic myelogenous leukemia

Abstract A case of chronic myelogenous leukemia is described with a variant Philadelphia (Ph 1 ) chromosome involving chromosomes No. 11, 14, and 22. The description of all G-banded cells is 46, XX, t(11;14;22)(q13;q32;q11). The pathogenetic implications are discussed.

Monosomy 5 in acute megakaryoblastic leukemia. Report of two cases.

Two cases of acute megakaryoblastic leukemia are reported. The diagnoses were confirmed by clinical, morphologic, and cytochemical analysis. Karyotypic analysis demonstrated monosomy 5 in both patients, providing further evidence that acute megakaryoblastic leukemia is a subset of the acute nonlymphocytic leukemias and may be etiologically related to the myelodysplastic syndromes.