Title: Variable expression of phenotype in offspring with partial monosomy 7q and partial trisomy 8p in a family with a rcp (7;8)(134;p12) translocation
Authors: Frints, S G ×
Moerman, Philippe
Fryns, Jean-Pierre #
Issue Date: Mar-1997
Series Title: Genetic Counseling vol:7 issue:4 pages:313-9
Abstract: We report a female fetus with partial 7q monosomy and partial 8p trisomy, as the unbalanced product of a familial balanced reciprocal translocation; rcp t(7;8)(134:p12)mat. Among pregnancies from translocation carriers in this family, there has been a high incidence of first trimester miscarriages. Three unbalanced offsprings with a partial 7q monosomy and partial 8p trisomy were diagnosed after prenatal investigations. One female fetus with this unbalanced karyotype has previously been reported. She had a multiple congenital anomalies (MCA) syndrome. In contrast, the present female fetus with the same abnormal karyotype shows only mild facial dysmorfism.
ISSN: 1015-8146
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Translational Cell & Tissue Research
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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