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F Shabtai

Publications and source records attributed to F Shabtai.

At least 37 records · Page 2Linked to original sources
PubMed1984

New anomalies found in the 11q-syndrome.

The cytogenetic analysis of an infant with multiple congenital anomalies revealed a small deletion of the long arm of one No. 11 chromosome: 46XX del 11 (q23-q25). The main clinical manifestations included: trigonocephaly, flat broad nasal bridge, micrognathia, carp mouth, hypertelorism, low set ears, severe congenital heart disease, anomalies of limbs and external genitalia. In comparison to the previously reported cases of 11q-, the patient presented here had congenital anomalies not described before, including severe affected urogenital system, hypoplasia of the adrenal, accessory spleens and mild hydrocephaly.

Abnormalities, Multiple↗
PubMed1983

Familial fragility on chromosome 16 (fra 16q22) enhanced by both interferon and Distamycin A.

A family with a "fragile site" at 16q22, inducible by both interferon and Distamycin A, is reported. Immunological problems were found in the family. In a sibship of ten, eight children had died in infancy. Our study led to the conclusions that interferon and Distamycin A induce fragility at the same site, which has the same characteristics as the spontaneous fragile site; that a viral hypothesis for this fragility may be supported; and that immunoincompetence of one kind or another must be considered in families presenting a fragile site at 16q22.

Adult↗
PubMed1983

Marker chromosomes in a family with high incidence of cancer.

Two young sisters presenting with malignant or premalignant conditions inherited two marker chromosomes (a 13p- and a 16 with a fragile site at q22). Malignancy was reported in the family on both the mother's and father's side. According to data from the literature on similar markers and from our personal observations, a possible significance may be suggested for these markers. Search for markers must be encouraged in families with high incidence of cancer. Eventually, we may find markers which will help in understanding the processes of carcinogenesis and possibly indicate individuals at risk.

Adult↗
PubMed1982

Partial monosomy of chromosome 2. Delineable syndrome of deletion 2 (q23-q31).

A malformed, severely retarded 20-year-old female is reported with deletion 2 (q23-q34) in mosaic. The clinical features are compared with those of other reported cases presenting partial monosomy 2q at the segment q23-q31. The stigmata are not very characteristic although a large constellation of features is in common and a definition of a partial monosomy 2 (q23-q31) syndrome seems possible. The features are: poor neurologic development and unresponsiveness to stimulation, growth and mental retardation, low set ears, antimongolian slant, ptosis, cataracts, median cleft of soft palate, severe scoliosis, flexion deformity of fingers, cleft between II and III toes, cardial defect.

Abnormalities, Multiple↗
PubMed1981

Studies of banded chromosomes in patients with acute lymphocytic leukemia, including one patient with the Burkitt-type (L3).

Studies on banded chromosomes of 10 patients with acute lymphocytic leukemia (ALL) are reported. The group is small but quite representative. 60% of the patients had a clonal abnormality: a Philadelphia chromosome and chromosome #7 abnormalities were seen in one patient; a marked hypodiploid clone (32 chromosomes) and its duplicate was seen in another; hyperploidy of 49 chromosomes (+4 +17 +21) was seen in a third patient, and 3 patients were found to have a 6q-abnormality. One of these patients had an L3, Burkitt-type of ALL. A translocation t(8;14) has frequently been found in this type of ALL. The findings confirm the nonrandomness of particular cytogenetic abnormalities in ALL and the possibility of the existence of different aberrations in apparently identical clinical entities.

Adolescent↗
PubMed1981

49,XYYYY. A case report.

A 14-month-old boy with a 49,XYYYY karyotype is reported. The physical examination revealed unusual facial features, brachydactyly with clinodactyly, limitation of supination at the left elbow, and inguinal hernia. Radiological abnormalities of the skeleton and urinary tract were present, and the developmental examination showed a DQ of 70.

Abnormalities, Multiple↗
PubMed1980

The fragile site on chromosome 16 (q21q22). Data on four new families.

The significance of the fragile site on 16 (q21q22) has not yet been fully evaluated. New data will contribute to the understanding of this cytogenetic finding. Therefore we report on four families where a chromosome 16 with fragile site was segregating and such problems as infertility, abortions, malformations, and aneuploidy were present. The hypothesis that this fragile site is a site of viral modification (or integration?) is considered.

Abortion, Habitual↗
PubMed1980

New complex Ph' translocation t (10; 14; 22) in bone marrow cells and in PHA-stimulated peripheral blood cultures in chronic myelocytic leukaemia.

A patient with chronic myelocytic leukaemia (CML) and a new complex Philadelphia chromosome (Ph') translocation, t (10; 14; 22), is described. This three way Ph' translocation not involving chromosome 9 was present in the majority of the bone marrow cells, as well as in a great proportion of metaphases from phytohaemagglutinin (PHA) stimulated peripheral blood cultures. The possibility that the Ph' translocation was present also in lymphocytes is discussed and at this regard the involvement of chromosome 14 is of interest considering the documented non random involvement of chromosome 14 in lymphoid malignancies.

Aged↗
PubMed1979

Pure trisomy 17p in 60% cells.

A patient with pure trisomy of the short arm of chromosome 17 in 60% of the examined cells is reported. She presented a variant chromosome 1 with partial pericentric inversion and increased centromeric heterochromatin in one chromosome 17. The cytogenetic findings are discussed. The clinical findings are compared to those found in other reported cases of partial trisomy 17 and a delineation of a pure trisomy 17p attempted.

Abnormalities, Multiple↗
PubMed1979

A hypodiploid clone and its duplicate in acute lymphoblastic leukemia.

Examination of the bone marrow of a 63-year-old man who had acute lymphoblastic leukemia revealed a population of cells with 32 chromosomes and another population with 64 chromosomes, the karyotypical exact duplicate of the first clone. The karyotypic evolution was studied and the findings compared with those described in two similar cases previously reported. It is postulated that severe hypodiploidy is associated with reduced capability of cellular survival, promoting a strong tendency for duplication.

Bone Marrow↗
PubMed1979

Two abnormal clones in the bone marrow cells of a patient with paroxysmal nocturnal hemoglobinuria.

Paroxysmal nocturnal hemoglobinuria (PNH) is considered to be a clonal disorder, although most investigations have failed to show chromosomal abnormalities. The present patient suffered from PNH and exhibited in bone marrow cells two abnormal clones with 47 chromosomes in addition to cells with 46 chromosomes. One clone showed trisomy 9, a finding previously reported in leukemias and myeloproliferative disorders. Thus, PNH seems to be a clonal myeloproliferative disease.

Aged↗