Neonatal death in cousins with trisomy 10q and monosomy 4p due to a familial translocation |
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| Authors: | Richard M. Pauli Susan J. Kirkpatrick Lorraine F. Meisner James R. Mijanovich Richard A. Spritz |
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| Affiliation: | Departments of Medical Genetics, University of Wisconsin, Madison, WI, U.S.A;Departments of Pediatrics, University of Wisconsin, Madison, WI, U.S.A;Departments of Preventive Medicine, University of Wisconsin, Madison, WI, U.S.A;Departments of Pathology and Laboratory Medicine, University of Wisconsin, Madison, WI, U.S.A |
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| Abstract: | Two cousins with trisomy for a part of the long arm of chromosome 10 and monosomy for the distal portion of the short arm of chromosome 4 are reported. These infants had severe, neonatally lethal, multiple malformations. Certain of these malformations - including severe lower limb reductions, marked ophthalmologic anomalies and certain craniofacial features - are inconsistent with either a simple additive effect of the two component chromosomal anomalies, or chromosomal "epistasis" that would result in observing the phenotypic effect of only one of the chromosomal aberrations. Rather a synergistic effect of these two karyotypic anomalies has resulted in unique phenotypic features. |
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| Keywords: | Anophthalmia cataracts chromosomal anomalies chromosomal translocation epistasis limb reduction 4p monosomy 10q trisomy |
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