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  • Title: Neonatal death in cousins with trisomy 10q and monosomy 4p due to a familial translocation.
    Author: Pauli RM, Kirkpatrick SJ, Meisner LF, Mijanovich JR, Spritz RA.
    Journal: Clin Genet; 1982 Dec; 22(6):340-7. PubMed ID: 7160105.
    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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