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W Tyson

Publications and source records attributed to W Tyson.

7 recordsLinked to original sources
PubMed1989

Apparent Smith-Lemli-Opitz syndrome and Miller-Dieker syndrome in a family with segregating translocation t(7;17)(q34;p13.1).

We describe a family in which one male infant presented with Miller-Dieker syndrome and four male relatives had a phenotype similar to the Smith-Lemli-Opitz (SLO) syndrome. High resolution cytogenetic analysis on the child with Miller-Dieker syndrome showed 46,XY,-17,+der17t(7;17)(q34:p13.1). Paternal chromosomes showed a balanced translocation: 46,XY,t(7;17)(q34:p13.1). The paternal grandmother had a history of multiple miscarriages, and a paternal uncle had two sons who died neonatally. Chromosomes on these children and their father had originally been reported as normal. There was also a paternal cousin to the father of the propositus who had had two sons with similar clinical findings. A diagnosis of SLO syndrome was considered. Image enhancement techniques on previous suboptimal preparations on these four children documented the subtle unbalanced translocation 46,XY,-7,+der7t(7;17)(q34:p13.1). Subsequent high resolution analysis on one of these four children who was still living confirmed this chromosome constitution. It is postulated that these apparent SLO cases may represent a contiguous gene syndrome in which SLO or a separate entity closely mimicking the syndrome in included.

Abnormalities, Multiple↗
PubMed1987

Pathologic aspects of fetal death.

The number of autopsies has declined during the past decade; however, repeated studies by pathologists, clinicians, and others have shown its great value in defining disease, quality control, patient and physician education, and providing material for basic research. In recent years financial concerns have added to the decrease in autopsies. Nonetheless, reported studies find perinatal autopsies clinically useful. The authors have attempted to outline an approach to the fetal and neonatal autopsy that minimizes cost and is complete enough to form a basis for making decisions about future pregnancies.

Autopsy↗