NDLI: Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting UTRN in a patient with arthrogryposis.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Tabet, Anne-Claude Aboura, Azzedine Gérard, Marion Pilorge, Marion Dupont, Céline Gadisseux, Jean-François Hervy, Nadège Pipiras, Eva Delahaye, Andrée Kanafani, Samia Verloes, Alain Benzacken, Brigitte Betancur, Catalina
Description	Country affiliation: France Author Affiliation: Tabet AC ( AP-HP, Cytogenetics Unit, Department of Genetics, Robert Debré Hospital, Paris, France. anne-claude.tabet@rdb.aphp.fr)
Abstract	Chromosome 6q duplications have been documented repeatedly, allowing the delineation of a '6q duplication syndrome,' characterized by hypertelorism, downslanting palpebral fissures, tented upper lip, short neck, severe mental and growth retardation, and joint contractures. Most reported cases result from malsegregation of a reciprocal translocation leading to a terminal 6q duplication and partial monosomy of another chromosome. Only 11 cases of de novo pure duplication have been reported so far. The breakpoints do not appear to be recurrent, but in most cases they have not been characterized molecularly, precluding genotype-phenotype correlation. We report on an 8-year-old girl with a phenotype consistent with mild 6q duplication syndrome, including characteristic physical findings, mild mental retardation, and joint contractures. She carries a 13 Mb de novo 6q24.2q25.3 duplication, diagnosed by high-resolution karyotype and confirmed by array-CGH. Molecular characterization of the duplicated segment with quantitative PCR showed that the proximal breakpoint is localized within the UTRN gene, encoding utrophin, the autosomal homologue of dystrophin. We discuss the possible implication of UTRN in arthrogryposis associated with duplications spanning the 6q23q26 region.
File Format	HTM / HTML
ISSN	15524825
e-ISSN	15524833
DOI	10.1002/ajmg.a.33433
Journal	American Journal of Medical Genetics Part A
Issue Number	7
Volume Number	152A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2010-07-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Discipline Genetics Arthrogryposis Genetics Chromosome Aberrations Chromosomes, Human, Pair 6 Gene Duplication Utrophin Complications Child, Preschool Chromosome Banding Chromosome Mapping Comparative Genomic Hybridization Hand Deformities, Congenital In Situ Hybridization, Fluorescence Infant Infant, Newborn Karyotyping Polymerase Chain Reaction Pregnancy Radiography Research Support, Non-u.s. Gov't
Content Type	Text
Resource Type	Article Case study
Subject	Genetics Genetics (clinical)

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Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting UTRN in a patient with arthrogryposis

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Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting UTRN in a patient with arthrogryposis.

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Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting UTRN in a patient with arthrogryposis

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