1.3 Mb de novo deletion in chromosome band 3q29 associated with normal intelligence in a child

European Journal of Medical Genetics

Volumn 53, Issue 6, 2010, Pages 415-418

  Cobb, William ^a   Anderson, Arne ^a   Turner, Clesson ^a   Hoffman, Ruth D ^a   Schonberg, Steven ^b   Levin, Sondra W ^a  

^a WALTER REED ARMY MEDICAL CENTER   (United States)

^b QUEST DIAGNOSTICS NICHOLS INSTITUTE   (United States)

Author keywords

Array CGH analysis; Autism; Deletion 3q29; IQ

Indexed keywords

ARTICLE; ATTENTION DEFICIT DISORDER; AUTISM; CASE REPORT; CHILD; CHROMOSOME 3Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; HUMAN; INTELLIGENCE; INTELLIGENCE QUOTIENT; LANGUAGE DISABILITY; MALE; PHENOTYPE; PSYCHOEDUCATION; PSYCHOLOGIC TEST; CHROMOSOME 3; FLUORESCENCE IN SITU HYBRIDIZATION; GENETICS; LETTER;

ATTENTION DEFICIT DISORDER WITH HYPERACTIVITY; AUTISTIC DISORDER; CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 3; COMPARATIVE GENOMIC HYBRIDIZATION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INTELLIGENCE; MALE; PHENOTYPE;

EID: 78349305817     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2010.08.009     Document Type: Article

References (10)

1. Ballif B.C., Theisen A., Coppinger J., Gowans G.C., Hersh J.H., Madan-Khetarpal S., Schmidt K.R., Tervo R., Escobar L.F., Friedrich C.A., McDonald M., Campbell L., Ming J.E., Zackai E.H., Bejjani B.A., Shaffer L.G. Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication. Mol. Cytogenet. 2008, 1:1-8.
2. Baynam G., Goldblatt J., Townshend S. A case of 3q29 microdeletion with novel features and a review of cytogenetically visible terminal 3q deletions. Clin. Dysmorphol. 2006, 15:145-148.
3. Digilio M.C., Bernardini L., Mingarelli R., Capolino R., Capalbo A., Giuffrida M.G., Versacci P., Novelli A., Dallapiccola B. 3q29 microdeletion: a mental retardation disorder unassociated with a recognizable phenotype in two mother-daughter pairs. Am. J. Med. Genet. A 2009, 149A:1777-1781.
4. Li F., Lisi E.C., Wohler E.S., Hamosh A., Batista D.A.S. 3q29 interstitial microdeletion syndrome: an inherited case associated with cardiac defect and normal cognition. Eur. J. Med. Genet. 2009, 52:349-352.
5. Rossi E., Piccini F., Zollino M., Neri G., Caselli D., Tenconi R., Castellan C., Carrozzo R., Danesino C., Zuffardi O., Ragusa A., Castiglia L., Galesi O., Greco D., Romano C., Pierluigi M., Perfumo C., Di Rocco M., Faravelli F., Dagna Bricarelli F., Bonaglia M., Bedeschi M., Borgatti R. Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations. J. Med. Genet. 2001, 38:417-420.
6. Slavotinek A., Rosenberg M., Knight S., Gaunt L., Fergusson W., Killoran C., Clayton-Smith J., Kingston H., Campbell R.H.A., Flint J., Donnai D., Biesecker L. Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres. J. Med. Genet. 1999, 36:405-411.
7. Tyshchenko N., Hackmann K., Gerlach E., Neuhann T., Schrock E., Tinschert S. 1.6 Mb deletion in chromosome band 3q29 associated with eye abnormalities. Eur. J. Med. Genet. 2009, 52:128-130.
8. van Ravenswaaij-Arts C.M.A. Emerging microdeletion and microduplication syndromes; the counseling paradigm. Eur. J. Med. Genet. 2009, 52:75-76.
9. Vermeesch J.R., Melotte C., Froyen G., Van Vooren S., Dutta B., Maas N., Vermeulen S., Menten B., Speleman F., De Moor B., Van Hummelen P., Marynen P., Fryns J.P., Devriendt K. Molecular karyotyping: array CGH quality criteria for constitutional genetic diagnosis. J. Histochem. Cytochem. 2005, 53:413-422.
10. Willatt L., Cox J., Barber J., Cabanas E.D., Collins A., Donnai D., FitzPatrick D.R., Maher E., Martin H., Parnau J., Pindar L., Ramsay J., Shaw-Smith C., Sistermans E.A., Tettenborn M., Trump D., de Vries B.B., Walker K., Raymond F.L. 3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome. Am. J. Hum. Genet. 2005, 77:154-160.