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Biomedical subjects

W Sanger

Publications and source records attributed to W Sanger.

25 records · Page 2Linked to original sources
PubMed1985

Partial deletion of distal 17q.

A newborn female was found to have a deletion of the terminal portion of 17q. Prominent manifestations included microcephaly, apparent hypertelorism, epicanthic folds, a broad nasal bridge with anteverted nostrils, posteriorly angulated ears, micrognathia, widely spaced nipples, arachnodactyly with proximal thumbs, and a coxa vara deformity. The unbalanced translocation was inherited from the mother, who had a reciprocal translocation involving the terminal portions of 2p and 17q. To the best of our knowledge, this is the first report of a liveborn infant with deletion of the distal portion of 17q with the exception of reports of patients with ring chromosome 17.

Abnormalities, Multiple↗
PubMed1985

Partial duplication of distal 17q.

A male propositus and an older sister had a similar pattern of congenital anomalies, including facial asymmetry with hypertelorism, frontal bossing and temporal narrowness, a broad nasal bridge, epicanthal folds, a wide mouth with a thin upper lip, micrognathia, webbed neck, low-set posteriorly angulated ears, and an abnormal hairline. There was also postaxial polydactyly, flexion contractures of the digits, hypotonia, and a congenital heart anomaly. The propositus also had renal anomalies whereas the sister did not, and the sister had a cleft lip and palate not present in her brother. The propositus and a subsequent fetus identified through genetic amniocentesis were determined to have a 46, XY, -18, +der(18),t(17;18)(q25.1;q23)mat chromosome constitution. Clinical findings are compared to those of other reported cases of dup(17q).

Abnormalities, Multiple↗
PubMed1984

Transformation of Fanconi's anemia to acute nonlymphocytic leukemia associated with emergence of monosomy 7.

Two sisters in whom a diagnosis of Fanconi's anemia was made at ages 12 and 18 subsequently developed acute nonlymphocytic leukemia (ANLL). A third sibling had previously died at age 11 of apparent sepsis. Both sisters had cytogenetic studies that showed increased chromosomal breakage and a 46,XX karyotype, but subsequently developed ANLL after, or coincident with, the emergence of monosomy 7. These observations suggest that, in addition to myelodysplastic syndromes and defective neutrophil chemotaxis, monosomy 7 may be associated with the emergence of leukemia in this disorder.

Acute Disease↗
PubMed1983

Familial amniotic bands.

Amniotic bands can cause a wide variety of deformities and mutilations. They are generally considered sporadic. Two families are presented with apparent familial amniotic band anomalies. Additional cases in the literature are reviewed. These aggregations may be coincidental, and recurrence risk is apparently low. However, amniotic band malformations may be an indication for caution in the use of amniocentesis in future pregnancies.

Adult↗
PubMed1981

Utilization of prenatal genetic diagnosis in women 35 years of age and older in the United States, 1977 to 1978.

As a measure of access to and acceptability of prenatal chromosomal diagnosis among older gravidas, we determined the ratio of use of prenatal diagnosis among women 35 years of age and older in Alabama, California, Manhattan, and Nebraska for the period 1977-1978. Utilization ratios were higher in 1978. Overall, utilization ratios were between 6% and 28%, well below the adjusted rates of 40% to 50% found in certain United States and British localities. Urban women tended to have higher utilization ratios than had rural women, and white women had higher ratios than had black women. Ratios were extremely low for black and rural residents. The oldest women (those greater than or equal to 40 years), who were at fivefold greater risk than women 35 to 36 years of age, had less than a onefold increase in utilization over the latter groups. The vast majority of older gravidas initiated prenatal care sufficiently early in their pregnancies to receive prenatal diagnosis. Current program strategies need to ensure access to prenatal diagnosis, especially for women greater than or equal to 40 years of age, women who are black, and women who live in rural areas.

Adult↗
PubMed1979

Practical aspects of banking patient's semen for future artificial insemination.

The necessary information is provided for the urologist to answer the question, "Doctor, can I freeze my semen before surgery and use it later to impregnate my wife?" A listing of all semen banks presently storing homologous semen and registered with the American Association of Tissue Banks is presented. The methods used, ancillary tests that are done or recommended, and costs are provided. The logistics of arranging for deposits and withdrawals are also discussed.

Cell Survival↗