A familial MCA/MR syndrome due to translocation t(10;16)(q26;p13.1): Report of six cases

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 defe...

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Veröffentlicht in:	American journal of medical genetics 1991-01, Vol.38 (1), p.1-8
Hauptverfasser:	Bofinger, Mary K., Opitz, John M., Soukup, Shirley W., Ekblom, Linda S., Phillips, S., Daniel, Arthur, Greene, Edward W.
Format:	Artikel
Sprache:	eng
Schlagworte:	16)(q26 Abnormalities, Multiple - genetics Biological and medical sciences chromosome 10qter deficiency chromosome 16pter duplication Chromosome aberrations Chromosomes, Human, Pair 13 - ultrastructure Chromosomes, Human, Pair 16 - ultrastructure der Facial Expression familial hydrops Female Humans Infant, Newborn Intellectual Disability - complications Intellectual Disability - genetics Karyotyping Male Medical genetics Medical sciences Multigene Family multiple congenital anomalies/mental retardation (MCA/MR) syndrome p13.1 Pedigree t(10 16)(q26 p13.1) Translocation, Genetic
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