Research
Print page Print page
Switch language
The Capital Region of Denmark - a part of Copenhagen University Hospital
Published

Microdeletion in distal 17p13.1: a recognizable phenotype with microcephaly, distinctive facial features, and intellectual disability

Research output: Contribution to journalJournal articleResearchpeer-review

DOI

  1. Safety of switching to Migalastat from enzyme replacement therapy in Fabry disease: Experience from the Phase 3 ATTRACT study

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. First reported adult patient with TARP syndrome: A case report

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Ocular albinism with infertility and late-onset sensorineural hearing loss

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Stakeholders in psychiatry and their attitudes toward receiving pertinent and incident findings in genomic research

    Research output: Contribution to journalJournal articleResearchpeer-review

  1. Correction: Educational delay and attainment in persons with neurofibromatosis 1 in Denmark

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Novel de novo mutation in ZBTB20 in primrose syndrome in boy with short stature

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Aortic aneurysm: An underestimated serious finding in the EP300 mutation phenotypical spectrum

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Spatially Detailed 3D Quantification of Improved Facial Symmetry After Surgery in Children With Unicoronal Synostosis

    Research output: Contribution to journalJournal articleResearchpeer-review

View graph of relations
Array comparative genomic hybridization has led to the identification of new syndromes by identifying genomic imbalances not detectable by standard karyotyping methods and by allowing correlations with physical findings. Deletions in the 17p13.1 region have been reported in patients with dysmorphic features and developmental delay but a consistent phenotype has yet to emerge. This report describes two unrelated patients with a characteristic phenotype associated with overlapping de novo deletions in the distal region of 17p13.1 detected with array comparative genomic hybridization and confirmed by real-time PCR. These patients share remarkably similar clinical features including microcephaly, mild developmental delay, generalized joint laxity, and a body posture with knee and elbow flexion and hands held in midline. They have distinctive facial features which include long midface with retrognathia with overbite, and protruding ears. The deletions in both patients are the smallest ever reported in this region (approximately 252 and 219 kb). The overlapping region contains 18 genes. Various isolated deletions of the 17p13.1 region have been reported previously without delineation of a consistent phenotype. We propose that the described microdeletions in the distal portion of 17p13.1 represent a novel microdeletion syndrome.
Original languageEnglish
JournalAmerican Journal of Medical Genetics. Part A
Volume158A
Issue number8
Pages (from-to)1832-6
Number of pages5
ISSN1552-4825
DOIs
Publication statusPublished - 2012

    Research areas

  • Base Sequence, Child, Chromosomes, Human, Pair 17, DNA Primers, Facies, Female, Gene Deletion, Humans, Intellectual Disability, Male, Microcephaly, Phenotype, Real-Time Polymerase Chain Reaction

ID: 36819949