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Biomedical subjects

L M Larson

Publications and source records attributed to L M Larson.

10 recordsLinked to original sources
PubMed1990

Chromosome abnormality in Kallmann syndrome.

We report on an individual with Kallman syndrome (KS) and a balanced de novo translocation (7;12)(q22,q24). None of 6 full sibs, 3 half-sibs, or parents have KS or this chromosome translocation. This is the only known report of KS with a chromosome abnormality. This may represent a spurious association or genetic heterogeneity vis-a-vis the reported linkage of KS to the steroid sulphatase gene on the X chromosome. The pathophysiology and genetics of KS are discussed.

Adult↗
PubMed1982

Familial reciprocal translocation, t(2;10)(p24;q26), resulting in duplication 2p and delection 10q.

We describe a familial reciprocal translocation between the distal part of the short arm of chromosome 2 and the long arm of chromosome 10. Five individuals in two generations had multiple congenital anomalies. Their karyotypes were 46,XX or XY, -10, + der(10), t(2;10)(p24;q26). Seven persons were balanced translocation carriers whose karyotypes were 46,XX or XY,t(2;10)(p24;q26). Common manifestations included mental retardation, strabismus, narrow high-arched palate, wide alveolar ridges, other facial abnormalities, genital abnormalities and mutism. The phenotype of the unbalanced individuals is compared to that of previously published cases of the syndrome of partial duplication 2p and to reported patients with partial deletion of 10q.

Abnormalities, Multiple↗
PubMed1982

Further evidence by gene dosage for the regional assignment of erythrocyte acid phosphatase (ACP1) and malate dehydrogenase (MDH1) loci on chromosome 2p.

Quantitative studies of erythrocyte acid phosphatase (ACP1) and soluble malate dehydrogenase (MDH1), both assigned to distal chromosome 2p, were performed by colorimetric methods on the red cells of four patients in an attempt to demonstrate a gene dosage effect. The patients inherited the unbalanced form of a familial reciprocal translocation, t(2;10)(p24;q26), and had partial duplication 2p. Parents of all patients and siblings of some were included in the study. All patients had increased levels of ACP1 corresponding to the presence of three structural genes. Levels of MDH1 were not increased. Evidence shows that the ACP1 gene is in the region 2p24 leads to 2pter and that MDH is not.

Acid Phosphatase↗
PubMed1981

Hematology problem.

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Factor VII Deficiency↗
PubMed1978

Trisomy 18 syndrome with an unusual karyotype: possible double isochromosome.

Chromosome analysis of an infant with characteristic features of trisomy 18 is presented. The chromosome complement contained a modal count of 47 but there was only one No. 18. In addition, there were two metacentric chromosomes of different sizes. The two metacentric chromosomes were identified by G- and C-banding to be possible isochromosomes of the long and short arms of a No. 18 chromosome.

Azure Stains↗
PubMed1977

Partial trisomy 7p associated with familial 7p;22q translocation.

A newly described partial trisomy of the short arm of chromosome number 7 is reported in a familial translocation between 7 and 22. The unbalanced translocation was found in one family member, the propositus, and the balanced form in 5 other members. The possibility of this translocation being a rare telomeric attachment previously undescribed in humans is discussed. Prominent clinical features include general mental and motor retardation, microbrachycephaly, and cardiac and oral abnormalities.

Adolescent↗