The use of a specific clinical history in counselling a family with the balanced translocation 46,XY,t(4;12)(p15.2;q21.3): viable offspring with partial monosomy 4p and trisomy 12q
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1998.tb03708.x/fullpdf
Reference4 articles.
1. Partial trisomy 12q: a clinically recognisable syndrome. Genetic risks associated with translocations of chromosome 12q;Pratt;J Med Genet,1983
2. Balanced reciprocal translocations: risk factors for aneuploid segregant viability;Davis;Clin Genet,1985
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1. Partial Monosomy 4p and Trisomy 12q due to a t(4;12)(p16.3;q24.31) Familial Translocation in Two Cousins;Molecular Syndromology;2019
2. Familial Congenital Facial Synkinesis Due to 12q Duplication: A Case Report and Literature Review;Pediatrics;2016-12-01
3. Cryptic duplication of 12q24.33→qter in a child with Angelman syndrome—simultaneous occurrence of two unrelated cytogenetic events;American Journal of Medical Genetics Part A;2007
4. Prenatal findings and molecular cytogenetic analyses of partial trisomy 12q (12q24.32→qter) and partial monosomy 21q (21q22.2→qter);Prenatal Diagnosis;2006
5. Prenatal diagnosis of partial trisomy 12q: clinical presentations and outcome;Prenatal Diagnosis;2005
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