Article
Molecular analysis of chromosome 21 in a patient with a phenotype of Down syndrome and apparently normal karyotype.
American journal of medical genetics - 28 Jun 1996
Ahlbom B E, Goetz P, Korenberg J R, Pettersson U, Seemanova E, Wadelius C, Zech L, Annerén G
Abstract excerpt
Down syndrome (DS) is caused in most cases by the presence of an extra chromosome 21. It has been shown that the DS phenotype is produced by duplication of only a small part of the long arm of chromosome 21, the 21q22 region, including and distal to locus D21S55. We present molecular investigations on a woman with clinically typical DS but apparently normal chromosomes. Her parents were consanguineous and she had...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.