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Biomedical subjects

M Degnan

Publications and source records attributed to M Degnan.

11 recordsLinked to original sources
PubMed1976

De novo appearance of a translocation t(5p; 2Iq), and its transmission in both balanced and unbalanced forms to the next generation.

A family is described in which a reciprocal translocation involving 5p and 21q appeared de novo in the chromosome complement of a woman who then transmitted it in both balanced and unbalanced form to her progeny. The proposita, a child with the cri du chat syndrome, had a deficiency for most of 5p, all of 21p, 21 centromere, and a small proximal segment of 21q. The reported cases of the cri du chat syndrome associated with translocations are reviewed and discussed in relation to this family.

Chromosome Aberrations↗
PubMed1975

Family study of vesicoureteral reflux.

A retrospective analysis of 242 families revealed that the incidence of reflux among siblings of children with reflux was 2.2 per cent. In a prospective study of 24 families, 8 of 50 siblings (16 per cent) had reflux. Although the incidence of reflux in the prospective study is surprisingly high infections was absent in all affected siblings in whom cultures were obtained and in only 2 siblings (4 per cent) was surgical correction necessary.

Adolescent↗
PubMed1975

Genetic counseling.

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Adaptation, Psychological↗