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Biomedical subjects

R C Baumiller

Publications and source records attributed to R C Baumiller.

12 recordsLinked to original sources
PubMed1980

The syndrome of ring chromosome 12.

We have studied a 13 month-old girl with failure to thrive developmental delay, and dysmorphic features. At 13 months, the weight-age was 1 month, length-age was 3 months and head circumference was at the 3rd centile for 3 months. Physical findings were: Epicanthal folds, mildly cupped, apparently low-set ears, highly arched palate, short neck with low hairline, clinodactyly, and single crease of left 5th finger. The modal chromosome number was 46. Trypsin-G banding identified a ring chromosome 12; Karyotype was 46,XX,r(12)(p13q24).

Abnormalities, Multiple↗
PubMed1980

Philadelphia chromosome-negative chronic myelogenous leukemia with trisomy D.

Previous reports emphasize that trisomy 8 is the most common, single chromosomal abnormality in both Philadelphia (Ph1) chromosome-positive and Ph1-negative chronic myelogenous leukemia (CML). Karyotype analysis on a 78-year-old man with Ph1-negative CML showed trisomy D, confirmed on banding studies to be an extra No. 14 chromosome. Although the abnormality is likely to be related to the leukemic clone, the importance of this chromosomal deviation is not known.

Aged↗
PubMed1979

Inheritance of Fuchs' combined dystrophy.

The inheritance pattern of Fuchs' combined corneal dystrophy is not confirmed. Published pedigrees fail to demonstrate a 50% segregation and sex ratio. They include no more than two generations of affected individuals and indicate a strong, female predilection. The pedigree we will present shows 16 affected persons in four generations. The ratio of affected to unaffected and men to women is 1:1. Penetrance is apparently 100%. Nine of the affected are under 50 years of age; four are subteen age. Light and electron micrographs of corneal tissue from three patients in three different generations are consistent with the diagnosis of Fuchs' dystrophy. Fuchs' dystrophy can therefore be established as a classic autosomal dominant pattern.

Adolescent↗