Biomedical subjects

J A Reiss

Publications and source records attributed to J A Reiss.

29 records · Page 2Linked to original sources

PubMed1986

Distal arthrogryposis type II: a family with varying congenital abnormalities.

Five family members with distal arthrogryposis in two generations are reported. Cleft lip and palate, micrognathia, ptosis, webbed neck, kyphoscoliosis, and short stature are seen in one or more affected family members. All individuals with distal arthrogryposis also have trismus. This family does not fit any of the recently proposed five subcategories of type II distal arthrogryposis, nor does it fit any other recognized autosomal dominant condition with distal contractures.

Arthrogryposis↗

PubMed1986

Partial trisomy 3p syndrome.

Two cousins with an unbalanced chromosome translocation (partial trisomy 3p) are described. Both children have a clinically recognizable syndrome of square facies with prominent cheeks, narrow bitemporal regions, psychomotor retardation and congenital heart disease. Extended family studies showed one other individual proven to have partial trisomy 3p karyotype, two retarded individuals with congenital heart disease who probably had it, and 14 balanced carriers of the translocation t(1;3)(q43;p21). This report confirms the characteristic clinical appearance of affected individuals and emphasizes the frequency in which congenital heart disease is the presenting feature of partial trisomy 3p. An additional 22 cases of partial 3p trisomy are reviewed.

Chromosomes, Human, Pair 3↗

PubMed1985

Tandem duplication of proximal 22q: a cause of cat-eye syndrome.

A boy with bilateral colobomas, preauricular pits, and developmental delay had a 46,XY,22q+ karyotype. His parents had normal chromosomes. The abnormality of 22q was interpreted as a de novo tandem duplication of 22q11.1----q11.2. Although no anal abnormality was identified, his manifestations are otherwise consistent with those of the cat-eye syndrome. Blood marker results and the levels of galactosidase-2, galactosidase-B and arylsulfatase-A, which are known to be coded on 22q, are normal.

Abnormalities, Multiple↗

PubMed1984

Application of analytical and semi-preparative high-performance liquid chromatography to anthracyclines and bis-anthracycline derivatives.

Efficient high-performance liquid chromatographic (HPLC) methods have been developed for routine analysis of a number of anthracycline derivatives using reversed-phase muBondapak C18 columns and an isocratic methanol-water-ammonium carbonate (or acetate) solvent system. The rates of formation of bis-daunomycin derivatives of alpha, omega-dicarboxylic acid hydrazides have been investigated using the analytical methods developed. It has been demonstrated that the reaction proceeds via an intermediate mono-hydrazone. Both the mono- and bis-hydrazones have been isolated by preparative HPLC.

Antibiotics, Antineoplastic↗

PubMed1979

The 8p- syndrome.

A boy with severe retardation of growth and development, minor dysmorphic features, severe congenital heart disease, and a 46,XY,8p-karyotype is described. The clinical findings of this boy are compared with those of others reported monosomic for a portion of the short arm of chromosome 8. The red cell glutathione reductase (GSR) level is normal in our patient.

Chromosome Deletion↗

PubMed1972