Atypical Down syndrome phenotype with severe developmental delay, hypertonia, and seizures in a child with translocation trisomy 21

Author:

Keppler-Noreuil Kim M,Welch Judy L,Major Heather J,Qiau Q,Jordan Diane K

Publisher

Wiley

Subject

Clinical Neurology,Developmental Neuroscience,Pediatrics, Perinatology, and Child Health

Reference11 articles.

1. A case of apparent trisomy 21 without the Down syndrome phenotype;Avramopoulos;Journal of Medical Genetics,1997

2. Down syndrome -critical region contains a gene homologous to Drosophile sim expressed during rat and human central nervous system development;Dahmane;Proceedings of the National Academy Sciences of the United States of America,1995

3. t(21q21q)/r[t(21q21q)] mosaic in two unrelated patients with mild stigmata of Down's syndrome;Dallapiccola;Annales De Genetique,1982

4. Molecular mapping of twenty-four features of Down syndrome on chromosome 21;Delabar;European Journal of Human Genetics,1993

5. Clinical diagnosis of Down syndrome;Jackson;Clinical Genetics,1976

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