Paternal deletion 6q24.3: a new congenital anomaly syndrome associated with intrauterine growth failure, early developmental delay and characteristic facial appearance

American Journal of Medical Genetics. Part a
Małgorzata J M NowaczykDarrel J Waggoner

Abstract

Deletions of the long arm of chromosome 6 are relatively uncommon and to date minimal genotype-phenotype correlations have been observed. We report on three unrelated patients with de novo paternal interstitial deletions of 6q24.3. FISH mapping was used to delineate the minimal region of overlap between these three patients. Although all three patients had different size deletions and different breakpoints, two of the patients shared a 2.5 Mb region of overlap and strikingly similar facial features including a triangular face, frontal bossing with metopic prominence, short and upward-slanting palpebral fissures, asymmetry of upper eyelids, hooded eyelids, shallow orbits, prominent inferior orbital crease, wide mouth, and long and flat philtrum. They also had redundant skin, joint laxity, a small thorax, and early developmental delay. The smallest region of overlap between all three patients was a region of deletion less than 1 Mb; all had a history of IUGR and postnatal short stature without overt radiologic skeletal anomalies. The dysmorphic features, early developmental and growth delay may be due to the hemizygous state for one of the genes in the deleted region of two of the patients or to a long range effect of the deletio...Continue Reading

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Citations

Jan 13, 2016·American Journal of Medical Genetics. Part a·Luisa RonzoniDonatella Milani
Nov 3, 2009·Fertility and Sterility·Saher Sue HammoudDouglas T Carrell
May 16, 2012·American Journal of Medical Genetics. Part a·Marina MichelsonDorit Lev
Jun 6, 2014·American Journal of Medical Genetics. Part a·Vera Ayres MeloniMaria Isabel Melaragno
May 25, 2010·American Journal of Human Genetics·Bernard ThienpontLars Allan Larsen
Jul 4, 2015·American Journal of Medical Genetics. Part a·Karin WeissDenise A S Batista
May 4, 2017·American Journal of Medical Genetics. Part a·Andrew ChengYajuan J Liu
Jan 26, 2020·European Journal of Medical Genetics·Eduard PermanyerManuel Galiñanes
Aug 31, 2021·European Journal of Human Genetics : EJHG·Aafke EngwerdaWilhelmina S Kerstjens-Frederikse

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