Distal 3p Duplication and 22q13.3 Deletion with Severe Hypotonia Originating from a Paternal Balanced Translocation (3;22)
Author:
Publisher
S. Karger AG
Subject
Genetics (clinical),Genetics
Reference16 articles.
1. Benet J, Oliver-Bonet M, Cifuentes P, Templado C, Navarro J: Segregation of chromosomes in sperm of reciprocal translocation carriers: a review. Cytogenet Genome Res 111:281-290 (2005).
2. Boué A, Gallano P: A collaborative study of the segregation of inherited chromosome structural rearrangements in 1356 prenatal diagnoses. Prenat Diagn 4:45-67 (1984).
3. Chen CP, Huang MC, Chern SR, Kuo YL, Chen YN, et al: Distal 3p duplication and terminal 7q deletion associated with nuchal edema and cyclopia in a fetus and a review of the literature. Taiwan J Obstet Gynecol 54:297-302 (2015).
4. Dundar M, Kiraz A, Tasdemir S, Akalin H, Kurtoglu S, et al: Unbalanced 3;22 translocation with 22q11 and 3p deletion syndrome. Am J Med Genet A 152A:2791-2795 (2010).
5. Faed MJ, Robertson J, Beck JS, Cater JI, Bose B, et al: Features of Di George syndrome in a child with 45,XX,-3,-22,+der(3),t(3;22)(p25;q11). J Med Genet 24:225-227 (1987).
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