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Biomedical subjects

H Wyandt

Publications and source records attributed to H Wyandt.

8 recordsLinked to original sources

Cytogenetic studies of eight squamous cell carcinomas of the head and neck. Deletion of 7q, a possible primary chromosomal event.

Cytogenetic analysis was performed on the metaphase spreads obtained from primary cultures of eight squamous cell carcinomas (SCCa) of the head and neck. Despite a variety of tumor sites and clinical stages, four of eight tumors studied showed the same interstitial deletion of a portion of the q arm of chromosome 7, i.e., del(7)(q22q34). In one tumor, this was the sole chromosome abnormality present. Three tumors showed multiple chromosome rearrangements, including deletion at 7q. Three tumors showed multiple rearrangements but did not have del(7q). One tumor had an apparently, normal karyotype. The implications for del(7q) as a primary chromosomal event in SCCa are discussed.

Aged

Report of a variant t(1;15;17)(p36;q22;q21.1) in a patient with acute promyelocytic leukemia.

Chromosome analysis of bone marrow aspirate from a 46-year-old man with acute promyelocytic leukemia (APL) revealed a variant translocation, 46,XY,t(1:15;17)(p36;q22;q21.1). The breakpoints in chromosomes 15 and 17 appear to be the same as those in the more common translocation, t(15;17), associated with APL. The common translocation has been reported in up to 80% of cases of APL. Seventeen cases with variant translocations have been reported involving 15 alone, 17 alone, or 15, 17, and some other chromosome.

Chromosome Aberrations

Partial Xq25 deletion in a family with the X-linked lymphoproliferative disease (XLP)

X-linked lymphoproliferative disease (XLP) results in exquisite vulnerability to EBV infection: fatal infectious mononucleosis (IM), acquired hypogammaglobulinemia and/or malignant lymphoma occur invariably following infection with the virus. We have identified the XLP locus using the DXS42 DNA probe having restriction length polymorphisms (RFLP). We report an interstitial deletion involving a portion of the Xq25 region in the X chromosome of an affected male, one sister, and their mother. Concordance has been established between the presence of a deletion and RFLP linkage analysis with the DXS42 probe in the kindred. This finding will contribute substantially to the mapping, cloning, and sequencing of the gene responsible for XLP.

Adult

Familial partial 14 trisomy.

Four children in the same family have 47, +der (14), t(9;14) (p24;q21). Their mothers are sisters with 46,XX,t(9;14) (p24;q21). Clinical features of the children are similar to those of others reported to have partial 14 trisomy.

Abnormalities, Multiple

Exclusion gene mapping utilizing patients with chromosome imbalance: the HL-A system as a prototype.

17 chromosomally unbalanced patients, their siblings and parents were tested for HL-A types and for up to 25 other polymorphic systems to determine whether there was gain or loss of an allele concurrent with the gain or loss of chromosome material. 5 patients had trisomy of part or all of a chromosome; 2 had trisomy of a segment and also deletion of chromosome material. All 7 were due to a familial translocation. The remaining patients had small deletions; 5 had ring chromosomes, 4 had rod deletions and 1 had missing chromosome material due to a heritable translocation. All cases were informative at the HL-A loci because of the high degree of polymorphism of the system whereas only some of the other systems were informative. None of the 17 patients showed unusual inheritance of HL-A or any other of the polymorphic systems examined. These results provide evidence excluding the HL-A and other loci from a number of possible locations in the human genome.

Blood Group Antigens