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

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

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

Ma?gorzata J M Nowaczyk,Melissa T Carter,Jie Xu,Marlene Huggins,Gordana Raca,Soma Das,Christa Lese Martin,Stuart Schwartz,Robert Rosenfield,Darrel J Waggoner,

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 deletion on expression of other genes. In addition, since imprinted genes have been reported in this region, paternal deletion of an imprinted gene in all three patients may contribute to the growth phenotype. We propose that this is a new congenital malformation syndrome associated with a paternal deletion of 6q24.3.

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

MJ Nowaczyk,MT Carter,J Xu,M Huggins,G Raca,S Das,CL Martin,S Schwartz,R Rosenfield,DJ Waggoner,

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

PUBLICATION TYPE: Journal Article

Journal: American journal of medical genetics. Part A

VOLUME: 146

Page Numbers: 354-60

Journal Abbreviation: Am. J. Med. Genet. A

ISSN: 1552-4833

DAY: 1

MONTH: Feb

YEAR: 2008

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

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LANGUAGE: eng

NlmUniqueID: 101235741

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

AFFILIATION: Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada.

Country: United States

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MEDLINETA: Am J Med Genet A

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