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Quoted phrase not found in phrase index: "Chromosome 3q13.31 deletion syndrome"
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A novel microdeletion syndrome at 3q13.31 characterised by developmental delay, postnatal overgrowth, hypoplastic male genitals, and characteristic facial features.
Molin AM, Andrieux J, Koolen DA, Malan V, Carella M, Colleaux L, Cormier-Daire V, David A, de Leeuw N, Delobel B, Duban-Bedu B, Fischetto R, Flinter F, Kjaergaard S, Kok F, Krepischi AC, Le Caignec C, Ogilvie CM, Maia S, Mathieu-Dramard M, Munnich A, Palumbo O, Papadia F, Pfundt R, Reardon W, Receveur A, Rio M, Ronsbro Darling L, Rosenberg C, Sá J, Vallee L, Vincent-Delorme C, Zelante L, Bondeson ML, Annerén G. Molin AM, et al. J Med Genet. 2012 Feb;49(2):104-9. doi: 10.1136/jmedgenet-2011-100534. Epub 2011 Dec 17. J Med Genet. 2012. PMID: 22180640 Free PMC article.
The smallest studied deletion was 580 kb, located in 3q13.31. Genotype-phenotype comparison in 24 patients sharing this shortest region of overlapping deletion revealed several common major characteristics including significant developmental delay, mus …
The smallest studied deletion was 580 kb, located in 3q13.31. Genotype-phenotype comparison in 24 patients sharing this …
Female patient with autistic disorder, intellectual disability, and co-morbid anxiety disorder: Expanding the phenotype associated with the recurrent 3q13.2-q13.31 microdeletion.
Quintela I, Gomez-Guerrero L, Fernandez-Prieto M, Resches M, Barros F, Carracedo A. Quintela I, et al. Am J Med Genet A. 2015 Dec;167A(12):3121-9. doi: 10.1002/ajmg.a.37292. Epub 2015 Aug 29. Am J Med Genet A. 2015. PMID: 26332054
The 3q13.31 microdeletion syndrome (OMIM #615433) has been defined as a genomic disorder mainly characterized by developmental delay, postnatal overgrowth, hypotonia, genital abnormalities in males, and characteristic craniofacial features. Although the 3q …
The 3q13.31 microdeletion syndrome (OMIM #615433) has been defined as a genomic disorder mainly characterized by develo …
The emerging role of genomics in the diagnosis and workup of congenital urinary tract defects: a novel deletion syndrome on chromosome 3q13.31-22.1.
Materna-Kiryluk A, Kiryluk K, Burgess KE, Bieleninik A, Sanna-Cherchi S, Gharavi AG, Latos-Bielenska A. Materna-Kiryluk A, et al. Pediatr Nephrol. 2014 Feb;29(2):257-67. doi: 10.1007/s00467-013-2625-2. Epub 2013 Nov 30. Pediatr Nephrol. 2014. PMID: 24292865 Free PMC article.
METHODS: We describe a 14-year-old girl with a large de novo deletion of chromosome 3q13.31-22.1 that disrupts 101 known genes. ...RESULTS: Our case defined new minimal chromosomal candidate regions for both CAKUT and ACC. The presence of the CA …
METHODS: We describe a 14-year-old girl with a large de novo deletion of chromosome 3q13.31-22.1 that disrupts 1 …