PMID: 11343302May 9, 2001Paper

Axenfeld-Rieger anomaly, hypertelorism, clinodactyly, and cardiac anomalies in sibs with an unbalanced translocation der(6)t(6;8)

American Journal of Medical Genetics
A C Baruch, R P Erickson

Abstract

We describe two sibs with the unbalanced translocation der(6)t(6;8)(p25.1;q24.23), making them monosomic for 6p25.1-->6pter and trisomic for 8q24.23-->8qter. The siblings both possess Axenfeld-Rieger Anomaly (ARA), hypertelorism, clinodactyly, and cardiac anomalies, but otherwise vary in the phenotypic manifestations of this unbalanced translocation. We compare them to previously described cases and a recently proposed syndrome of ARA, atrial septal defect, and sensorineural deafness.

References

May 1, 1991·American Journal of Medical Genetics·C G PalmerM J Pettenati
Dec 1, 1990·American Journal of Medical Genetics·M H Kormann-BortolottoA C Adell
Feb 1, 1990·American Journal of Medical Genetics·V L ZurcherA B Zinn
Sep 1, 1989·Clinical Genetics·S M JalalP King
Jan 1, 1974·Humangenetik·O Sánchez, J J Yunis
Jan 27, 1999·Developmental Biology·J A West-MaysT Williams
Mar 10, 1999·Human Genetics·A F DaviesJ Ragoussis
Mar 14, 2000·European Journal of Human Genetics : EJHG·F MirzayansM A Walter

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Citations

Feb 25, 2010·Clinical Dysmorphology·Mehmet Necdet Akkus, Atilla Argin
Jan 18, 2005·American Journal of Medical Genetics. Part a·Kenneth MacleanLesley C Adès
May 4, 2011·Birth Defects Research. Part A, Clinical and Molecular Teratology·Erin KaltenbrunFrank L Conlon
Apr 17, 2007·American Journal of Human Genetics·A M HolderD A Scott
Oct 4, 2017·Clinical Genetics·M Seifi, M A Walter
Aug 6, 2021·Developmental Dynamics : an Official Publication of the American Association of Anatomists·Michael T YarboroJeff Reese

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