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A familial MCA/MR syndrome due to translocation t(10;16)(q26;p13.1): Report of six cases
Authors:Mary K. Bofinger  John M. Opitz  Shirley W. Soukup  Linda S. Ekblom  S. Phillips  Arthur Daniel  Edward W. Greene
Affiliation:Department of Neuroscience, University of North Dakota School of Medicine, Grand Forks, North Dakota
Abstract:A minute familial translocation t(10;16) (q26;p13.1) was detected in a family with 6 affected children in 2 generations and 9 carriers in 3 generations. This apparently unique translocation is associated with a deleterious syndrome which includes fetal hydrops, ascites, complex congenital heart defect, psychomotor retardation, failure to thrive, hypotonia, narrow palpebral fissures, abnormally modeled, apparently low-set ears, cleft palate, thumb abnormalities, hypogenitalism, inguinal hernia, and sparse hair. All children of known or presumed carriers have been either balanced or unbalanced carriers of this translocation.
Keywords:chromosome 16pter duplication  chromosome 10qter deficiency  der(10)  t(10  16)(q26   p13.1)  multiple congenital anomalies/mental retardation (MCA/MR) syndrome  familial hydrops
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