Characterization of interstitial Xp duplications in two families by tiling path array CGH

American Journal of Medical Genetics, Part A

Volumn 146, Issue 2, 2008, Pages 197-203

  Tzschach, Andreas ^a   Chen, Wei ^a   Erdogan, Fikret ^a   Hoeller, Adelheid ^b   Ropers, Hans Hilger ^a   Castellan, Claudio ^c   Ullmann, Reinhard ^a   Schinzel, Albert ^c,d  

^a MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^b Central Hospital   (Italy)

^c Genetic Counseling Service for South Tyrol   (Italy)

^d UNIVERSITY OF ZURICH   (Switzerland)

Author keywords

Array CGH; Duplication Xp; MAOA; Mental retardation; Obesity

Indexed keywords

ADULT; ARTICLE; CDKL5 GENE; CHROMOSOME ARM; CHROMOSOME DUPLICATION; CLINICAL ARTICLE; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; DISEASE SEVERITY; FAMILIAL DISEASE; GENE; GENE DUPLICATION; GENE IDENTIFICATION; HUMAN; INTERSTITIAL XP DUPLICATION; KARYOTYPE 46,XY; MACROCEPHALY; MALE; MAOA GENE; MENTAL DEFICIENCY; NDP GENE; OBESITY; PRIORITY JOURNAL; RARE DISEASE; RSK2 GENE; TM4SF2 GENE;

ADULT; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, X; FAMILY; GENE DUPLICATION; HUMANS; KARYOTYPING; MALE; MENTAL RETARDATION; MICROARRAY ANALYSIS; MIDDLE AGED; PEDIGREE;

EID: 37849018206     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32070     Document Type: Article

References (21)

1. Bardoni B, Floridia G, Guioli S, Peverali G, Anichini C, Cisternino M, Casalone R, Danesino C, Fraccaro M, Zuffardi O, et al. 1993. Functional disomy of Xp22-pter in three males carrying a portion of Xp translocated to Yq. Hum Genet 91:333-338.
2. Bardoni B, Zanaria E, Guioli S, Floridia G, Worley KC, Tonini G, Ferrante E, Chiumello G, McCabe ER, Fraccaro M, et al. 1994. A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal. Nat Genet 7:497-501.
3. Baumstark A, Barbi G, Djalali M, Geerkens C, Mitulla B, Mattfeldt T, de Almeida JC, Vargas FR, Llerena Junior JC, Vogel W, Just W. 1996. Xp-duplications with and without sex reversal. Hum Genet 97:79-86.
4. Brunner HG, Nelen M, Breakefield XO, Ropers HH, van Oost BA. 1993. Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A. Science 262:578-580.
5. Chen W, Erdogan F, Ropers HH, Lenzner S, Ullmann R. 2005. CGHPRO - A comprehensive data analysis tool for array CGH. BMC Bioinformatics 6:85.
6. Cianchetti C, Muntoni F, Falchi AM, Nucaro A, Sannio-Fancello G, Cao A, Marrosu MG. 1992. X-linked mental retardation and characteristic physical features in two brothers with duplication Xp22-Xpter. Am J Med Genet 43:475-478.
7. Erdogan F, Chen W, Kirchhoff M, Kalscheuer V, Hultschig C, Mueller I, Schulz R, Menzel C, Bryndorf T, Ropers HH, Ullmann R. 2006. Impact of low copy repeats on the generation of balanced and unbalanced chromosomal aberrations in mental retardation. Cytogenet Genome Res 115:247-253.
8. Gimelli G, Giglio S, Zuffardi O, Alhonen L, Suppola S, Cusano R, Lo Nigro C, Gatti R, Ravazzolo R, Seri M. 2002. Gene dosage of the spermidine/spermine N(1)-acetyltransferase (SSAT) gene with putrescine accumulation in a patient with a Xp21.1p22.12 duplication and keratosis follicularis spinulosa decalvans (KFSD). Hum Genet 111:235-241.
9. Inoue K, Osaka H, Sugiyama N, Kawanishi C, Onishi H, Nezu A, Kimura K, Yamada Y, Kosaka K. 1996. A duplicated PLP gene causing Pelizaeus-Merzbacher disease detected by comparative multiplex PCR. Am J Hum Genet 59:32-39.
10. Kalscheuer VM, Tao J, Donnelly A, Hollway G, Schwinger E, Kubart S, Menzel C, Hoeltzenbein M, Tommerup N, Eyre H, Harbord M, Haan E, Sutherland GR, Ropers HH, Gecz J. 2003. Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation. Am J Hum Genet 72:1401-1411.
11. Lugtenberg D, de Brouwer AP, Kleefstra T, Oudakker AR, Frints SG, Schrander-Stumpel CT, Fryns JP, Jensen LR, Chelly J, Moraine C, Turner G, Veltman JA, Hamel BC, de Vries BB, van Bokhoven H, Yntema HG. 2006. Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH. J Med Genet 43:362-370.
12. Matsuo M, Muroya K, Kosaki K, Ishii T, Fukushima Y, Anzo M, Ogata T. 1999. Random X-inactivation in a girl with duplication Xp11.21-p21.3: Report of a patient and review of the literature. Am J Med Genet 86:44-50.
13. Melaragno MI, Ramos MA, Brunoni D. 1998. Partial Xp duplication due to a translocation t(X;15) in two male and two female patients: A familial case report and review of the literature. Ann Genet 41:189-194.
14. Narahara K, Kodama Y, Kimura S, Kimoto H. 1979. Probable inverted tandem duplication of Xp in a 46,Xp + Y boy. Jinrui Idengaku Zasshi 24:105-110.
15. Nielsen KB, Langkjaer F. 1982. Inherited partial X chromosome duplication in a mentally retarded male. J Med Genet 19:222-224.
16. Portnoi MF, Bouayed-Abdelmoula N, Mirc M, Zemni R, Castaing H, Stephann J, Ardalan A, Vialard F, Nouchy M, Daoud P, Chelly J, Taillemite JL. 2000. Molecular cytogenetic analysis of a duplication Xp in a female with an abnormal phenotype and random X inactivation. Clin Genet 58:116-122.
17. Poston WS, Foreyt JP. 2004. Sibutramine and the management of obesity. Expert Opin Pharmacother 5:633-642.
18. Rao PN, Klinepeter K, Stewart W, Hayworth R, Grubs R, Pettenati MJ. 1994. Molecular cytogenetic analysis of a duplication Xp in a male: Further delineation of a possible sex influencing region on the X chromosome. Hum Genet 94:149-153.
19. Telvi L, Ion A, Carel JC, Desguerre I, Piraud M, Boutin AM, Feingold J, Ponsot G, Fellous M, McElreavey K. 1996. A duplication of distal Xp associated with hypogonadotrophic hypogonadism, hypoplastic external genitalia, mental retardation, and multiple congenital abnormalities. J Med Genet 33:767-771.
20. Trivier E, De Cesare D, Jacquot S, Pannetier S, Zackai E, Young I, Mandel JL, Sassone-Corsi P, Hanauer A. 1996. Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome. Nature 384:567-570.
21. Van Esch H, Bauters M, Ignatius J, Jansen M, Raynaud M, Hollanders K, Lugtenberg D, Bienvenu T, Jensen LR, Gecz J, Moraine C, Marynen P, Fryns JP, Froyen G. 2005. Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. Am J Hum Genet 77:442-453.