Deletion 2p25.2: A cryptic chromosome abnormality in a patient with autism and mental retardation detected using aCGH

European Journal of Medical Genetics

Volumn 52, Issue 1, 2009, Pages 67-70

  Lo Castro, Adriana ^a   Giana, Grazia ^a   Fichera, Marco ^b   Castiglia, Lucia ^b   Grillo, Lucia ^b   Musumeci, Sebastiano Antonino ^b   Galasso, Cinzia ^a   Curatolo, Paolo ^a  

^a UNIVERSITY OF ROME TOR VERGATA   (Italy)

^b OASI RESEARCH INSTITUTE IRCCS   (Italy)

Author keywords

2p Deletion syndrome; Array CGH; Autism; Mental retardation; Monosomy 2p

Indexed keywords

AGENESIS; ARTICLE; AUTISM; CASE REPORT; CHILD; CHROMOSOME 2P; CHROMOSOME ABERRATION; CHROMOSOME DELETION; COMPARATIVE GENOMIC HYBRIDIZATION; CRANIOFACIAL MALFORMATION; FEMALE; GENE; GENE REARRANGEMENT; HETEROZYGOTE; HUMAN; MENTAL DEFICIENCY; MICROCEPHALY; MONOSOMY; OPTIC NERVE; PHENOTYPE; SCHOOL CHILD; SOX11 GENE;

AUTISTIC DISORDER; CHILD; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 2; COMPARATIVE GENOMIC HYBRIDIZATION; HUMANS; MENTAL RETARDATION;

EID: 58149141727     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2008.09.004     Document Type: Article

References (9)

1. Aviram-Goldring A., Fritz B., Bartsch C., Steuber E., Daniely M., Lev D., Chaki R., Barkai G., Frydman M., and Rehder H. Molecular cytogenetic studies in three patients with partial trisomy 2p, including CGH from paraffin-embedded tissue. Am. J. Med. Genet. 91 (2000) 74-82
2. Dee S.L., Clark A.T., Willatt L.R., and Yates J.W.R. A case of ring chromosome 2 with growth retardation, mild dysmorphism, and microdeletion of 2p detected using FISH. J. Med. Genet. 38 (2001) E32
3. Gruchy N., Jacquemont M.-L., Lyonnet S., Labrune P., El Kamel I., Siffroi J.-P., and Portnoi M.-F. Recurrent inverted duplication of 2p with terminal deletion in a patient with the classical phenotype of trisomy 2p23-pter. Am. J. Med. Genet. 143 (2007) 2417-2422
4. Jankowski M.P., Cornuet P.K., McIlwrath S., Koerber H.R., and Albers K.M. SRY-box containing gene 11 (Sox11) transcription factor is required for neuron survival and neurite growth. Neuroscience 143 (2006) 501-514
5. Ravnan J.B., Tepperberg J.H., Papenhausen P., Lamb A.N., Hedrick J., Eash D., Ledbetter D.H., and Martin C.L. Subtelomere FISH analysis of 11 688 cases: an evaluation of the frequency and pattern of subtelomere rearrangements in individuals with developmental disabilities. J. Med. Genet. 43 (2006) 478-489
6. Shaffer L.G., Kashork C.D., Saleki R., Rorem E., Sundin K., Ballif B.C., and Bejjani B.A. Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases. J. Pediatr. 149 (2006) 98-102
7. Zou Y.S., Van Dyke D.L., and Ellison J.W. Microarray comparative genomic hybridization and FISH studies of an unbalanced cryptic telomeric 2p deletion/16q duplication in a patient with mental retardation and behavioural problems. Am. J. Med. Genet. A 143 (2007) 746-751
8. Wurm A., Sock E., Fuchshofer R., Wegner M., and Tamm E.R. Anterior segment dysgenesis in the eyes of mice deficient for the high-mobility-group transcription factor Sox11. Exp. Eye Res. 86 (2008) 895-907
9. Wong K.K., deLeeuw R.J., Dosanjh N.S., Kimm L.R., Cheng Z., Horsman D.E., MacAulay C., Ng R.T., Brown C.J., Eichler E.E., and Lam W.L. A comprehensive analysis of common copy-number variations in the human genome. Am. J. Hum. Genet. 80 (2007) 91-104