title: Pure interstitial dup(6)(q22.31q22.31) - a case report.
abstract: 'Pure' interstitial duplication of chr6q is rare. The varying size of duplication encompassing 6q22.31 is associated with the expressivity of dysmorphism and autism. Here, we report a unique case with facial dysmorphism, developmental delay, complex neurological impairment and spasticity unrelated to autism. Genetic analysis by aCGH exhibited a 627-971 kb dup(6)(q22.31q22.31) encompassing TRDN and NKAIN2 genes. The presence of the duplication was confirmed by quantitative PCR in the proband and phenotypically normal parents. With the current techniques, we cannot exclude presence of a deleterious homozygous point mutation in the proband where each copy would have been inherited from both parents.
authors: FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, 380015, India. fshethad1@googlemail.com.
authors: Frenny
authors: F
authors: Sheth
authors: FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, 380015, India. drsuniltrivedi@hotmail.com.
authors: Sunil
authors: S
authors: Trivedi
authors: Laboratory of Medical Genetics, Jeanne de Flandre Hospital, CHRU, 59000, Lille, France. joris.andrieux@chru-lille.fr.
authors: Joris
authors: J
authors: Andrieux
authors: Laboratory of Molecular Diagnostics, Genetic Medicine, University Hospitals of Geneva, CH-1211, Geneva, Switzerland. jean-louis.blouin@unige.ch.
authors: Jean-Louis
authors: JL
authors: Blouin
authors: FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, 380015, India. jshethad1@gmail.com.
authors: Jayesh
authors: J
authors: Sheth
mesh_terms: D002675:Child, Preschool; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D003241:Consanguinity; D019465:Craniofacial Abnormalities / Q000235:genetics*; D002658:Developmental Disabilities / Q000235:genetics*; D020440:Gene Duplication; D006801:Humans; D008297:Male; D055617:Micro-Electrical-Mechanical Systems; D010375:Pedigree; D010641:Phenotype; D014314:Trisomy / Q000235:genetics*
references: J Med Genet. 2000 Apr;37(4):281-6
references: 10745046
references: Eur J Hum Genet. 2013 Apr;21(4):361-5
references: 22909776
references: Nature. 2001 Feb 15;409(6822):860-921
references: 11237011
references: Genome Res. 2001 Jun;11(6):1005-17
references: 11381028
references: Nat Genet. 2010 Mar;42(3):203-9
references: 20154674
references: Neuron. 2011 Jun 9;70(5):863-85
references: 21658581
references: J Med Genet. 2000 Nov;37(11):889-92
references: 11185077
references: Nat Genet. 2004 Sep;36(9):949-51
references: 15286789
references: Eur J Biochem. 1995 Oct 1;233(1):258-65
references: 7588753
references: Am J Med Genet. 1998 Nov 2;80(2):133-5
references: 9805129
references: Hum Mutat. 2005 Nov;26(5):426-36
references: 16145689
references: J Med Genet. 2006 Feb;43(2):143-7
references: 15908570
references: Nat Genet. 2006 May;38(5):528-30
references: 16604071
references: Am J Hum Genet. 2007 Feb;80(2):372-7
references: 17236142
references: Eur J Med Genet. 2007 Jan-Feb;50(1):60-5
references: 17071147
references: Am J Hum Genet. 2008 Feb;82(2):432-43
references: 18252223