Ring chromosome 17 syndrome with monosomy 17 mosaicism: case report and literature review
Author:
Publisher
Wiley
Subject
General Medicine,Pediatrics, Perinatology, and Child Health
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1651-2227.1999.tb00205.x/fullpdf
Reference12 articles.
1. A case of ring chromosome E 17: 46, XX, r(17)(p13q25);Ono;Jpn J Hum Genet,1974
2. Ring chromosome 17 in a mentally retarded boy;Quazi;Ann Genet,1979
3. An infant with ring 17 chromosome and unusual dermatoglyphs: a new syndrome;Carpenter;Med Genet,1981
4. Ring chromosome 17 in a mentally retarded young man-clinical, cytogenic, and biochemical investigations;Chudley;Am J Med Genet,1982
5. The Miller-Dieker syndrome: lissencephaly and monosomy 17p;Dobyns;J Pediatr,1983
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1. Effect of Recombinant Human Growth Hormone Treatment in a Patient with Short Stature Associated with the Ring Chromosome 17 Syndrome;Case Reports in Pediatrics;2023-09-25
2. Ring chromosome 20 syndrome: Electroclinical description of six patients and review of the literature;Epilepsy & Behavior;2012-04
3. Mild ring 17 syndrome shares common phenotypic features irrespective of the chromosomal breakpoints location;Clinical Genetics;2009-09
4. Ring chromosome 17 epilepsy may resemble that of ring chromosome 20 syndrome;Epileptic Disorders;2007-09
5. A girl with neurofibromatosis type 1, atypical autism and mosaic ring chromosome 17;American Journal of Medical Genetics Part A;2007-01-01
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