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Journals and Conferences
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Human mAb were produced from tonsillar or PBL of normal individuals or patients infected with group A streptococci. Lymphocytes were purified on Ficoll-Hypaque gradients and stimulated in vitro with purified group A streptococcal membranes or M protein extracts. The mAb were selected for study based on their reaction with group A streptococci, pep M5… (More)
We describe an unusual de novo case of two interstitial deletions (5q22----5q31; 9q13----9p22) and one duplication (9q22----9p34) resulting from a 10-breakpoint, complex chromosome rearrangement of chromosomes 1, 5, 8, and 9 in a profoundly retarded woman.
A rare maternal complex balanced translocation, 46,XX, t(2;3;13)(q37;p11;q14) carrier state is described in a 24-year-old black mother. Her children demonstrate normal, balanced and unbalanced segregation patterns derived from this balanced chromosomal arrangement.
We present a family identified through a healthy 20-year-old female with a history of multiple successive spontaneous abortions. Her karyotype demonstrates a rare balanced insertional translocation between chromosomes 1 and 7, 46,XX,dir ins(7;1)(p15.3;q12q21.3). This is the first reported case of a 7;1 insertional translocation involving the proximal… (More)
A fetus with multiple malformations was identified by prenatal ultrasound investigation. Cordocentesis and fetal lymphocyte chromosome analysis demonstrated a model number of 47 chromosomes. The extra chromosome material was identified as an isochromosome of the entire short arm of chromosome 9 with no involvement of the heterochromatic region of the long… (More)
We describe five patients with tetrasomy 12p (one previously reported). These patients exhibit a very wide range of phenotypic features from that of classic Pallister-Killian syndrome to only mild learning disabilities with pigmentary skin changes. As such, these cases highlight the fact that tetrasomy 12p [i(12p)] and Pallister-Killian syndrome are not… (More)
To examine the possibility that patients with renal cell carcinoma (RCC) have chromosomal abnormalities at a common gene locus, we undertook a study of patients with and without a history of hereditary disease as part of an ongoing population-based case-control study of risk factors in RCC. We identified 112 patients for cytogenetic study. Chromosome… (More)
Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal dysplasia associated with cranial, clavicular, and dental anomalies. It is caused by mutations in the RUNX2 gene, which encodes an osteoblast-specific transcription factor and maps to chromosome 6p21. We report clinical and molecular cytogenetic studies in a patient with clinical features of… (More)
BOT-2 cells (human breast tumor origin) have an impaired ability to utilize exogenous thymidine. Previous studies revealed this deficiency to be the permeation event rather than phosphorylation, since the cells have active thymidine kinase. Chromosome-mediated gene transfer was used to transfer genetic information in the form of metaphase chromosomes, from… (More)
A number of positive and negative studies have been reported with regard to the damaging effects of LSD on human chromosomes. The present report describes a comparative study of cytogenetic analyses of 200 metaphases of lymphocytes from each of 6 subjects (3 males, 3 females) at varying concentrations of LSD, along with a positive control with mitomycin C… (More)