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Pure interstitial dup(6)(q22.31q22.31) - a case report.

  • Sheth F FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, 380015, India. fshethad1@googlemail.com.
  • Trivedi S FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, 380015, India. drsuniltrivedi@hotmail.com.
  • Andrieux J Laboratory of Medical Genetics, Jeanne de Flandre Hospital, CHRU, 59000, Lille, France. joris.andrieux@chru-lille.fr.
  • Blouin JL Laboratory of Molecular Diagnostics, Genetic Medicine, University Hospitals of Geneva, CH-1211, Geneva, Switzerland. jean-louis.blouin@unige.ch.
  • Sheth J FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, 380015, India. jshethad1@gmail.com.
  • 2015-02-01
Published in:
  • Italian journal of pediatrics. - 2015
Child, Preschool
Chromosomes, Human, Pair 6
Consanguinity
Craniofacial Abnormalities
Developmental Disabilities
Gene Duplication
Humans
Male
Micro-Electrical-Mechanical Systems
Pedigree
Phenotype
Trisomy
English '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.
Language
  • English
Open access status
gold
Identifiers
Persistent URL
https://sonar.ch/global/documents/192233
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