Partial trisomy 18 with minimal anomalies: Lack of correspondence between phenotypic manifestations and triplicated loci along chromosome 18
Author:
Publisher
Wiley
Subject
Genetics (clinical)
Reference24 articles.
1. 47,XX,+der(18),t(9;18)(p24;q21) mat: a distinct partial trisomy 18q--syndrome?
2. Clinical manifestations of familial 13;18 translocation.
3. Familial mental retardation in a family with an inherited chromosome rearrangement
4. (1986): “The Consequences of Chromosome Imbalance.” Cambridge University Press, p 38.
5. Partial 18 trisomy (with 47 chromosomes) resulting from a familial maternal translocation.
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3. A study of a rare chromosomal disorder: mosaic 46,XX,del(18)(p11.2)/46,XX,i(18q);Journal of Genetics;2013-12
4. Cardiac malformation of partial trisomy 7p/monosomy 18p and partial trisomy 18p/monosomy 7p in siblings as a result of reciprocal unbalanced malsegregation—and review of the literature;European Journal of Pediatrics;2012-02-01
5. De novo duplication of 18p11.21-18q12.1 in a female with anorectal malformation;American Journal of Medical Genetics Part A;2011-01-13
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