Inversions of the long (q) arm of chromosome #5 are reported in five cases with hematologic disorders. Inversion of 5q with breakpoints in bands 5q13 and 5q33 was found in two cases with lymphoid malignancy and in two cases of myeloid hematologic malignancy. Because an inversion of 5q with breakpoints in 5q22 and 5q33 was also found in a case with myeloproliferative syndrome, the common denominator in these five cases was band 5q33. An extraordinary cluster of genes affecting cell growth and differentiation is present on 5q and may be altered by the chromosome rearrangement of 5q in hematologic disorders.

Adult↗

PubMed1988

The origin of isochromosomes.

Explore the source record for details and available documents.

Centromere↗

PubMed1988

Chromosome subband 17p11.2 deletion: a minute deletion syndrome.

Interstitial deletion of the short arm of chromosome 17 was detected in three unrelated patients with mental retardation and multiple congenital malformations. These patients were identified at a single centre over a six month period suggesting that del(17) (p11.2p11.2) is not a rare constitutional chromosome rearrangement. Comparison of the phenotypic features in a total of 19 patients with del(17)(p11.2p11.2) shows a consistent clinical phenotype with moderate to severe mental retardation, microbrachycelphaly, prominent forehead, broad face, flat midface, prognathism, short, broad hands, and behavioural anomalies such as self-mutilation. The sex ratio is unremarkable, parental ages are normal, and survival is usually unimpaired. Chromosome resolution of at least 500 bands appears necessary to detect this deletion.

Abnormalities, Multiple↗

PubMed1988

Chromosome sublocalization of a cDNA for human DNA polymerase-beta to 8p11----p12.

We have localized a cDNA fragment that codes for human DNA polymerase-beta. Using somatic cell and in situ hybridization techniques, this cDNA was cloned by screening a human KM-3 cell cDNA library in lambda gt 11 for expression of fused beta-galactosidase-human DNA polymerase-beta proteins. We have mapped this human polymerase-beta gene to the short arm of chromosome 8 in the subregion 8p11----p12.

Animals↗

PubMed1988

Parental chromosome 11 alleles in Wilms tumor.

Explore the source record for details and available documents.

Chromosome Deletion↗

PubMed1988

Clinical and biologic characterization of T-cell neoplasias with rearrangements of chromosome 7 band q34.

In T cell malignancy, rearrangements of chromosome 14 have been observed with a break in the band that contains the alpha chain gene for the T cell receptor (TCR). Because the beta chain TCR gene is in chromosome band 7q34, we searched for and report finding specific rearrangements of 7q34 exclusively in T cell malignancies. The rearrangements were reciprocal translocations between 7q34 and other points: 1p34, 9q32, 9q34, 15q22, and 19p13. The malignancies containing a 7q34 translocation were either T cell acute lymphoblastic leukemias or T cell lymphoblastic lymphomas that had similarities in clinical, enzyme, immunologic, and cellular characteristics. Hybridization using a probe to the beta-TCR gene disclosed unique rearrangements consistent with clonality in every case. A common pattern with chromosome breakpoints involving TCR genes may be emerging in T cell neoplasia.

Adenosine Deaminase↗

PubMed1988

Chromosomal localization of the human genes for lipocortin I and lipocortin II.

The human genes which code for Lipocortin I and Lipocortin II, proteins that inhibit phospholipase A2 (PLA2) activity, have been regionally localized in the human genome by chromosomal in situ hybridization and segregation analysis in somatic cell hybrids using cDNA clones for Lipocortin I and II. Lipocortin I, the 35 kd substrate for the epidermal growth factor (EGF) receptor/kinase, maps to chromosome region 9q11- greater than q22. The Lipocortin II cDNA probe detects at least four independently segregating loci which map to human chromosome regions 4q21-q31.1, 9pter-q34 proximal to c-abl, 10q proximal to 10q24 and 15q21-q22 proximal to the 15q22 translocation breakpoint characteristic of acute promyelocytic leukemia (APL). Thus, Lipocortin I and one locus detected by Lipocortin II cDNA are syntenic on chromosome 9; one Lipocortin II locus is perhaps not far from the genes for EGF and IL-2 on 4q; and another of the Lipocortin II loci is on 15q, perhaps not far from the APL breakpoint.

Annexins↗

PubMed1988

Hereditary intestinal neurofibromatosis. I. A distinctive genetic disease.

Intestinal neurofibromatosis without other manifestations of von Recklinghausen's neurofibromatosis was found in a multigeneration family. Neurofibromas were strictly limited to the intestine. Onset of symptoms was delayed until adulthood and some gene carriers remained asymptomatic into their middle or late adult years. One other family with intestinal neurofibromatosis has been described in 1966. No symptomatic male is yet known, although an asymptomatic male in our family is an obligate gene carrier. The gene for intestinal neurofibromatosis may be incompletely penetrant and its expression varies even in symptomatic patients. No male-to-male transmission has been recorded to rule out X linkage. Intestinal neurofibromatosis presents as a distinctive dominant phenotype with an increased risk of intestinal problems including bleeding, intussusception and obstruction.

Adult↗

PubMed1988

Hereditary intestinal neurofibromatosis. II. Translocation between chromosomes 12 and 14.

A translocation was found in members of a family with intestinal neurofibromatosis, a rare dominant disorder phenotypically distinct from von Recklinghausen neurofibromatosis. The translocation was reciprocal between chromosomes 12 and 14. Four of 5 family members carrying the gene for intestinal neurofibromatosis had the translocation. This may be due to change alone or linkage of the gene for intestinal neurofibromatosis to one of the translocation breakpoints in chromosome bands 12q13 and 14q13.

Chromosomes, Human, Pair 12↗

PubMed1988

Enigmatic fragile sites on human chromosomes.

Explore the source record for details and available documents.

Animals↗

PubMed1988

A rearranged transforming gene, tre, is made up of human sequences derived from chromosome regions 5q, 17q and 18q.

The transfection recombinant transforming gene, tre, originated from discontinuous human genetic elements after transfection of NIH3T3 cells with genomic DNA from a Ewing's sarcoma cell line. Probes for the three normally discontinuous human elements involved in the transfection recombinant were subcloned and used in conjunction with a panel of rodent-human hybrid cells to determine their normal location in the human genome. The leftmost (5') element derives from the long arm of chromosome 5 (5q); the internal fragment derives from human chromosome 18 proximal to the bcl-2 gene; and the rightmost (3') element derives from the long arm of chromosome 17 (17q) distal to an acute leukemia breakpoint at 17q21. In situ hybridization of the same probes to human metaphase chromosomes confirmed localization of these sequences to regions 5q23----q31, 18q12, and 17q12----q22.

Animals↗