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
Dec 1, 1979·Clinical Genetics·R M FinemanJ Warpinski
Jun 10, 1977·Human Genetics·A Schinzel
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
May 1, 1987·American Journal of Medical Genetics·A P Walker, M Bocian
Jan 1, 1974·Humangenetik·O Sánchez, J J Yunis
Oct 1, 1996·Human Genetics·A F DaviesJ Ragoussis
Dec 1, 1996·Nature Genetics·E V SeminaJ C Murray
Jan 28, 1998·Archives of Ophthalmology·E T CunninghamW R Green
Jun 10, 1998·Nature Genetics·D Y NishimuraV C Sheffield
Aug 27, 1998·Journal of Medical Genetics·C J LawI K Temple
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
Apr 18, 2000·Human Molecular Genetics·R S SmithS W John
Citations
Nov 19, 2010·Pediatric Surgery International·Risa TeshibaKen Yamamoto
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
Oct 20, 2011·American Journal of Medical Genetics. Part a·Hidefumi TonokiSusumu Iizuka
Apr 17, 2007·American Journal of Human Genetics·A M HolderD A Scott
Apr 14, 2012·Ophthalmic Genetics·Francis BebyPhilippe Denis
Oct 4, 2017·Clinical Genetics·M Seifi, M A Walter
Sep 5, 2002·American Journal of Medical Genetics·S GrossoP Balestri
Aug 6, 2021·Developmental Dynamics : an Official Publication of the American Association of Anatomists·Michael T YarboroJeff Reese