Holoprosencephaly, ear abnormalities, congenital heart defect, and microphallus in a patient with 11q- mosaicism

American Journal of Medical Genetics
R A HelmuthE R Wills

Abstract

We report on a newborn male with deletion of part of 11q, the 27th reported case. Our patient had some of the clinical characteristics of the 11q- syndrome, but his male gender, liveborn status, q21 breakpoint, and mosaicism were unusual. In addition, he demonstrated holoprosencephaly, with cyclopia and arhinencephaly, manifestations previously unreported in the 11q- syndrome. We discuss the above points and review the literature on 11q-.

References

Dec 1, 1977·Clinical Genetics·S KaffeK Hirschhorn
Jul 1, 1979·Acta paediatrica Scandinavica·I Felding, F Mitelman
Feb 11, 1977·Human Genetics·J Frank, V M Riccardi
Apr 15, 1977·Human Genetics·M T Mulcahy, J Jenkyn
May 1, 1975·The Journal of Pediatrics·L G LinarelliH M Rubin
May 1, 1987·American Journal of Medical Genetics·D N KurtzmanL Weiss
Jan 1, 1974·Clinical Genetics·J FaustB Löning
Apr 1, 1981·The Journal of Pediatrics·F MollicaG Sorge
Nov 1, 1982·American Journal of Medical Genetics·P L MonteleoneM Tietjens
Nov 1, 1982·The Journal of Pediatrics·M M Cohen
Dec 1, 1980·Journal of Medical Genetics·B M LippeL Neidengard

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Citations

Dec 1, 1992·Acta Paediatrica Japonica; Overseas Edition·Y IshidaH Matsuda
Mar 10, 2009·Orphanet Journal of Rare Diseases·Teresa MattinaPaul Grossfeld
Mar 3, 1998·American Journal of Medical Genetics·J H LinK H Lin
Dec 1, 1994·American Journal of Medical Genetics·C B Neavel, S Soukup
Sep 1, 1993·American Journal of Medical Genetics·R HustinxL Koulischer
Nov 1, 1990·American Journal of Medical Genetics·A E LinJ M Graham
Sep 1, 1992·The Japanese Journal of Human Genetics·A WakazonoT Orii
Jan 5, 2005·Archives of Pathology & Laboratory Medicine·Bo JinKaroline S Puder

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