Literature DB >> 24027734

Monozygotic twins with trisomy 13 presenting with variable phenotype.

Maysan Alshaar1, Carolyn Jones.   

Abstract

Entities:  

Year:  2012        PMID: 24027734      PMCID: PMC3762053          DOI: 10.4103/2249-4847.106008

Source DB:  PubMed          Journal:  J Clin Neonatol        ISSN: 2249-4847


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Sir, Trisomy 13 syndrome occurs in approximately 1/5000 live births. It is most commonly caused by nondisjunction. Robertsonian translocation involving chromosome 13 with another acrocentric chromosome in an unbalanced state accounts for 5%-10% of trisomy 13 cases. In this situation there is an increased risk of familial recurrence, however the phenotype is the same. We report a case of monozygotic female twins. Both inherited as an unbalanced 13;15 translocation from their father. The trisomy 13 constitution was present in 100% of the cells analyzed on both girls. The phenotype however was more severe in twin B than twin A. Twin B had proboscis and cyclopia. Twin A had microphthalmia and hypotelorism. The cause of this varying phenotype is unknown. Possible causes include environmental factors, chromosome X-inactivation, post zygotic gene mutations, circulatory changes due to placental vascular anastomoses or exogenous factors such as infections, drugs, nutrition or oxygen therapy.[12]
  2 in total

Review 1.  Some causes of genotypic and phenotypic discordance in monozygotic twin pairs.

Authors:  G A Machin
Journal:  Am J Med Genet       Date:  1996-01-22

2.  Trisomy 18 in monozygotic twins.

Authors:  A F Mulder; J van Eyck; F Groenendaal; J W Wladimiroff
Journal:  Hum Genet       Date:  1989-10       Impact factor: 4.132

  2 in total

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