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3 results on '"Zerres, K."'

2. [Distal spinal-muscular atrophy 1 (DSMA1 or SMARD1)].

Author

Kaindl AM, Guenther UP, Rudnik-Schöneborn S, Varon R, Zerres K, Gressens P, Schuelke M, Hubner C, and von Au K

Subjects
Diagnosis, Differential, Female, Humans, Infant, Newborn, Muscular Atrophy, Spinal genetics, Pregnancy, Prenatal Diagnosis, Respiratory Distress Syndrome, Newborn etiology, Muscular Atrophy, Spinal diagnosis
Abstract

In this article, we review the clinical, neuropathological and genetic aspects of distal spinal-muscular atrophy 1 (DSMA1; MIM#604320), formerly designated as autosomal recessive spinal muscular atrophy with respiratory distress type 1 (SMARD1) and also known as distal hereditary-motor neuropathy type 6 (dHMN6 or HMN6).

Published
2008
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3. [Phenotype signs at different ages in partial trisomy 3p by familial translocation 3/5].

Author

Schwanitz G and Zerres K

Subjects
Adolescent, Adult, Chromosomes, Human, 4-5, Dermatoglyphics, Female, Humans, Infant, Karyotyping, Pedigree, Phenotype, Chromosomes, Human, 1-3, Translocation, Genetic, Trisomy
Abstract

A family is described with a translocation 3/5 in three generations. Four patients showed the typical symptoms of partial trisomy 3p; for 2 of them a chromosome analysis was possible. Different main symptoms could be demonstrated for the different age-groups. The difficulties in analysing familial translocations and the problems in genetic counseling are discussed.

Published
1984

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