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Identical twin discordance for the Brachmann-de Lange syndrome revisited by Carakushansky, Gerson; Aguiar, Marcos B.; Gonçalves, Marcia R.; Berthier, Clélia O.; Kahn, Evelyn; Carakushansky, Mauri; Pena, Sergio D. J. is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

What is Identical twin discordance for the Brachmann-de Lange syndrome revisited about?

The only known twin pair evidently discordantly affected for the BDLS (Brachmannde Lange syndrome) and who had been considered monozygotic (MZ) based on blood analysis remained a problem because biological zygosity determination needed further typing. In this report we review the clinical findings of this pair of twins at the age of 20. The use of DNA fingerprinting with three multilocus probes, F10, DNF24, and 33.6, allowed us to present evidence of monozygosity with a high degree of certainty. The significance of this confirmation of discordance in determining the cause of BDLS is discussed. Intensive comparative genomic studies of the discordant twin sisters may be useful to unravel the molecular genetics of this enigmatic pattern of malformation.

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Author

Carakushansky, Gerson; Aguiar, Marcos B.; Gonçalves, Marcia R.; Berthier, Clélia O.; Kahn, Evelyn; Carakushansky, Mauri; Pena, Sergio D. J.

Publisher

John Wiley and Sons; Wiley (John Wiley & Sons); Wiley-Liss Inc; Wiley (ISSN 0148-7299)

Published

1996

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)