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Biomedical subjects

L I Gardner

Publications and source records attributed to L I Gardner.

At least 73 records · Page 4Linked to original sources
PubMed1976

Inclusion of satellites in an 18/21 translocation chromosome shown by ammonical-silver staining (sat-banding) in case of partial trisomy 18.

A male infant with a partial trisomy 18 and a 46,XY, --21, t(18;21)(18qter replaced by 18q12::21 p13 replaced by 21 qter) chromosome complement is described. The translocation chromosome is of special interest because it includes the satellites of chromosome 21. This was shown by differential satellite staining with the ammoniacal-silver technique.

Ammonia↗
PubMed1976

Hypertensive virilizing adrenal hyperplasia with minimal impairment of synthetic route to cortisol.

One of the first described cases of hypertensive virilizing adrenal hyperplasia (VAH) (Pediatrics 8: 805, 1951) has been followed from age 2 1/2 until age 26. Blood pressure as an infant was 150/90, and at age 25 was 220/160. During childhood the patient was lost to follow-up for prolonged periods, and received no therapy from age 20 to 25. At this time 24 h urinary excretion of 17-ketosteroids was 89 mg; tetrahydro 11-deoxycortisol (tetrahydro S), 47 mg and pregnanetriol 5.7 mg. Hourly measurements of several plasma steroids utilizing sephadex LH 20 chromatography and competitive protein binding were made during 24 h; concentration ranges were made during 24 h; concentration ranges were as follows (mug/100 ml): 11-deoxycortisol 8-40; cortisol 0-48; corticosterone 0-15; deoxycorticosterone 1-18. Plasma cortisol, especially showed a significiant morning impairment, but reached normal and even markedly elevated levels during the day and early evening. Urinary cyclic AMP per 24 h ranged from 5.3 to 11.6 n mol/mg creatinine before therapy, and was 1.9 n mol after therapy. The results suggest either the formation of an alternate pathway to cortisol synthesis, or the existence of a form of VAH with two independent 11-B hydroxylating systems, exhibiting only minimal impairment of the synthetic route to cortisol. The latter would support the presence of two independent 11-B hydroxylating systems in the normal human adrenal. This has been suggested by Zachmann et al. (J Clin Endocrinol Metab 33: 501, 1971) to be true in infancy. Our observations on an adult indicate that these two systems may not be transitory, but persist into adulthood.

Adrenocortical Hyperfunction↗
PubMed1975

4p- phenotype in an infant with t(4p-;19p or q+)mat translocation.

Four family members had an apparently balanced t(4p-;19p or q+) translocation indentified by Giemsa banding. One of these individuals, a male infant, has a 4p- phenotype with seizures, large bilateral cleft palate, abnormal anterior fontanel, abnormally shaped ears, hypertelorism, small penis with third-degree hypospadias, and bilateral simian creases. It is theorized that 4p material containing loci essential for normal development was lost in this infant by a simple deletion or "aneusomy by recombination."

Abnormalities, Multiple↗
PubMed1975

Segregation of a t(14q22q) chromosome in a large kindred.

A large kindred is reported in which 21 members are balanced t(14q22q) carriers. The components of the translocation were identified by autoradiography and G-banding. With the exception of the index case, who was retarded, all of the carriers were phenotypically normal. The segregation pattern of the translocation chromosome was determined in two complete generations. All eight of the progeny in one generation were balanced carriers, and the carrier father of this generation may have been homozygous for the t(14q22q) chromosome. Segregation in the next generation was closer to the expected 1:1 ratio of carrier to non-carrier, the ratio being 11:13.

Chromosome Aberrations↗