3.7 Mb tandem microduplication in chromosome 5p13.1-p13.2 associated with developmental delay, macrocephaly, obesity, and lymphedema. Further characterization of the dup(5p13) syndrome

European Journal of Medical Genetics

Volumn 54, Issue 3, 2011, Pages 225-230

  Oexle, Konrad ^a   Hempel, Maja ^a   Jauch, Anna ^c   Meitinger, Thomas ^a,b   Rivera Brugués, Núria ^b   Stengel Rutkowski, Sabine ^d   Strom, Tim ^b  

^a TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^b INSTITUTE OF EPIDEMIOLOGY   (Germany)

^c UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^d UNIVERSITY OF MUNICH   (Germany)

Author keywords

Autism; Dup(5p) syndrome; Low posterior hairline; Lymphedema; Mental retardation; Obesity

Indexed keywords

ANTEVERTED NOSTRIL; ARTICLE; ATTENTION DEFICIT DISORDER; AUTISM; CASE REPORT; CHROMOSOME 5P; CHROMOSOME DUPLICATION; DEVELOPMENTAL DISORDER; DISEASE ASSOCIATION; ECHOLALIA; EPICANTHUS; GROWTH RETARDATION; HIGH ARCHED PALATE; HUMAN; HYPERTENSION; KYPHOSIS; LEG SWELLING; LYMPHEDEMA; MACROCEPHALY; MALE; MOTOR DEVELOPMENT; MUSCLE HYPOTONIA; OBESITY; SCOLIOSIS; TRISOMY; ULTRASOUND;

ABNORMALITIES, MULTIPLE; ADOLESCENT; CHILD; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 5; DEVELOPMENTAL DISABILITIES; FOLLOW-UP STUDIES; GENE DUPLICATION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; LYMPHEDEMA; MACROCEPHALY; MALE; OBESITY; SYNDROME; YOUNG ADULT;

EID: 79955463479     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2010.12.012     Document Type: Article

References (19)

1. Lejeune J., Lafourcade J., Berger R., Turpin R. Ségrégation familiale d'une translocation 5~13 déterminant une monosomie et une trisomie partielles du bras court du chromosome 5: Maladie du " Cri du chat" et sa " réciproque" C. R. Hebd. Seances. Acad. Sci. 1964, 258:5767-5770.
2. Lorda-Sánchez I., Urioste M., Villa A., Carrascosa M.C., Vázquez M.S., Martínez A., Martínez-Frías M.L. Proximal partial 5p trisomy resulting from a maternal (19;5) insertion. Am. J. Med. Genet. 1997, 68:476-480.
3. Zabel B., Baumann W., Gehler J., Conrad G. Partial trisomy for short and long arm of chromosome no. 5. Two cases of two possible syndromes. J. Med. Genet. 1978, 15:143-147.
4. Chia N.L., Bousfield L.R., Johnson B.H. A case report of a de novo tandem duplication (5p)(p14→pter). Clin. Genet. 1987, 31:65-69.
5. Avansino J.R., Dennis T.R., Spallone P., Stock A.D., Levin M.L. Proximal 5p trisomy resulting from a marker chromosome implicates band 5p13 in 5p trisomy syndrome. Am. J. Med. Genet. 1999, 87:6-11.
6. Loscalzo M.L., Becker T.A., Sutcliffe M. A patient with an interstitial duplication of chromosome 5p11-p13.3 further confirming a critical region for 5p duplication syndrome. Eur. J. Med. Genet. 2008, 51:54-60.
7. Bushby K.M., Cole T., Matthews J.N., Goodship J.A. Centiles for adult head circumference. Arch. Dis. Child. 1992, 67:1286-1287.
8. Blackx L., Thoelen R., Van Esch H., Vermeesch J.R. Direct fluorescent labelling of clones by DOP PCR. Mol. Cytogenet. 2008, 1-4.
9. Wagenstaller J., Spranger S., Lorenz-Depiereux B., Kazmierczak B., Nathrath M., Wahl D., Heye B., Glaser D., Liebscher V., Meitinger T., Strom T.M. Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation. Am. J. Hum. Genet. 2007, 81:768-779.
10. Iafrate A.J., Feuk L., Rivera M.N., Listewnik M.L., Donahoe P.K., Qi Y., Scherer S.W., Lee C. Detection of large-scale variation in the human genome. Nat. Genet. 2004, 36:949-951.
11. Vera-Carbonell A., Bafalliu J.A., Guillén-Navarro E., Escalona A., Ballesta-Martínez M.J., Fuster C., Fernández A., López-Expósito I. Characterization of a de novo complex chromosomal rearrangement in a patient with cri-du-chat and trisomy 5p syndromes. Am. J. Med. Genet. A 2009, 149:2513-2521.
12. Yan J., Zhang F., Brundage E., Scheuerle A., Lanpher B., Erickson R.P., Powis Z., Robinson H.B., Trapane P.L., Stachiw-Hietpas D., Keppler-Noreuil K.M., Lalani S.R., Sahoo T., Chinault A.C., Patel A., Cheung S.W., Lupski J.R. Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange. J. Med. Genet. 2009, 46:626-634.
13. Schinzel A. Catalogue of unbalanced chromosome aberrations in man 2001, Walter de Gruyter, Berlin, 242-246. second ed.
14. Rethoré M.O., Blois M.C., Peeters M., Popowski P., Pangalos C., Lejeune J. Pure partial trisomy of the short arm of chromosome 5. Hum. Genet. 1989, 82:296-298.
15. Cervera M., Sánchez S., Molina B., Alcántara M.A., Del Castillo V., Carnevale A., González-del Angel A. Trisomy of the short arm of chromosome 5 due to a de novo inversion and duplication (5)(p15.3 p13.3). Am. J. Med. Genet. A 2005, 136:381-385.
16. Teslovich T.M., Musunuru K., Smith A.V., Edmondson A.C., Stylianou I.M., Koseki M., Pirruccello J.P., Ripatti S., Chasman D.I., Willer C.J., Johansen C.T., Fouchier S.W., Isaacs A., Peloso G.M., Barbalic M., Ricketts S.L., et al. Biological, clinical and population relevance of 95 loci for blood lipids. Nature 2010, 466:707-713.
17. Heid I.M., Jackson A.U., Randall J.C., Winkler T.W., Qi L., Steinthorsdottir V., Thorleifsson G., Zillikens M.C., Speliotes E.K., Mägi R., Workalemahu T., White C.C., Bouatia-Naji N., Harris T.B., Berndt S.I., Ingelsson E., et al. Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. Nat. Genet. 2010, 42:949-960.
18. Speliotes E.K., Willer C.J., Berndt S.I., Monda K.L., Thorleifsson G., Jackson A.U., Allen H.L., Lindgren C.M., Luan J., Mägi R., Randall J.C., Vedantam S., Winkler T.W., Qi L., Workalemahu T., Heid I.M., et al. Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat Genet 2010, 42:937-948.
19. Scherag A., Dina C., Hinney A., Vatin V., Scherag S., Vogel C.I., Müller T.D., Grallert H., Wichmann H.E., Balkau B., Heude B., Jarvelin M.R., Hartikainen A.L., Levy-Marchal C., Weill J., Delplanque J., et al. Two new loci for body-weight regulation identified in a joint analysis of genome-wide association studies for early-onset extreme obesity in French and German study groups. PLoS Genet. 2010, 6:e1000916.