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Partial trisomy for short arm of chromosome 5.
Yasutomo K, Suzue T, Nishioka A, Kozan H, Sekiguchi T, Ohara K, Okamoto T, Iwai T, Endo S. Yasutomo K, et al. Acta Paediatr Jpn. 1993 Aug;35(4):336-9. doi: 10.1111/j.1442-200x.1993.tb03065.x. Acta Paediatr Jpn. 1993. PMID: 8379327 Review.
We present two unrelated cases of partial trisomy for the short arm of chromosome 5, the first such cases reported in Japan. The features are characterized by hypertelorism, low set ears, arachnodactyly, laryngostenosis, hypotonia and some cerebral malformation. ...The sim …
We present two unrelated cases of partial trisomy for the short arm of chromosome 5, the first such cases reported in Japan. The feat …
Trisomy of the short arm of chromosome 5 due to a de novo inversion and duplication (5)(p15.3 p13.3).
Cervera M, Sánchez S, Molina B, Alcántara MA, Del Castillo V, Carnevale A, González-del Angel A. Cervera M, et al. Am J Med Genet A. 2005 Aug 1;136A(4):381-5. doi: 10.1002/ajmg.a.30791. Am J Med Genet A. 2005. PMID: 16001443 Review.
It has been suggested that the critical region for 5p trisomy syndrome lies between 5p10 and 5p13. We report on a Mexican girl who developed severe mental retardation and generalized tonic clonic seizures at age 1 year. On physical examination at age 5 years, she ha …
It has been suggested that the critical region for 5p trisomy syndrome lies between 5p10 and 5p13. We report on a Mexican girl …