Abstract
A child is described with multiple congenital abnormalities including microcephaly, odd facies, Fallot's tetralogy, and absent parathyroids. These were associated with partial trisomy for the distal half of the long arm of chromosome 14, the extra segment being translocated to the short arms of No 10. The main clinical problems were those related to the congenital heart disease and hypocalcaemia.
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- Raoul O., Rethoré M. O., Dutriliaux B., Michon L., Lejeune J. Trisome 14q partielle. I. Trisomie 14q partiella par translocation maternelle t(10;14) (p15.2;q22) Ann Genet. 1975 Mar;18(1):35–39. [PubMed] [Google Scholar]
- Rethoré M. O., Couturier J., Carpentier S., Ferrand J., Lejeune J. Trisomie 14 en mosaïque chez une enfant multimalformée. Ann Genet. 1975 Mar;18(1):71–74. [PubMed] [Google Scholar]