3q29 microdeletion syndrome: Clinical and molecular characterization of a new syndrome

Lionel Willatt, James Cox, John Barber, Elisabet Dachs Cabanas, Amanda Collins, Dian Donnai, David R. FitzPatrick, Eddy Maher, Howard Martin, Josep Parnau, Lesley Pindar, Jacqueline Ramsay, Charles Shaw-Smith, Erik A. Sistermans, Michael Tettenborn, Dorothy Trump, Bert B A De Vries, Kate Walker, F. Lucy Raymond

    Research output: Contribution to journalArticlepeer-review


    We report the identification of six patients with 3q29 microdeletion syndrome. The clinical phenotype is variable despite an almost identical deletion size. The phenotype includes mild-to-moderate mental retardation, with only slightly dysmorphic facial features that are similar in most patients: a long and narrow face, short philtrum, and high nasal bridge. Autism, gait ataxia, chest-wall deformity, and long and tapering fingers were noted in at least two of six patients. Additional features-including microcephaly, cleft lip and palate, horseshoe kidney and hypospadias, ligamentous laxity, recurrent middle ear infections, and abnormal pigmentation-were observed, but each feature was only found once, in a single patient. The microdeletion is ∼1.5 Mb in length, with molecular boundaries mapping within the same or adjacent bacterial artificial chromosome (BAC) clones at either end of the deletion in all patients. The deletion encompasses 22 genes, including PAK2 and DLG1, which are autosomal homologues of two known X-linked mental retardation genes, PAK3 and DLG3. The presence of two nearly identical low-copy repeat sequences in BAC clones on each side of the deletion breakpoint suggests that nonallelic homologous recombination is the likely mechanism of disease causation in this syndrome. © 2005 by The American Society of Human Genetics. All rights reserved.
    Original languageEnglish
    Pages (from-to)154-160
    Number of pages6
    JournalAmerican Journal of Human Genetics
    Issue number1
    Publication statusPublished - Jul 2005


    • genetics: Abnormalities, Multiple
    • Child
    • Child, Preschool
    • Chromosome Deletion
    • Chromosome Mapping
    • Chromosomes, Human, Pair 3
    • genetics: Craniofacial Abnormalities
    • Female
    • Humans
    • Infant
    • Male
    • genetics: Mental Retardation
    • Phenotype
    • Research Support, Non-U.S. Gov't
    • Syndrome


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