Autistic disorder and chromosomal mosaicism 46,XY[123]/46,XY,del(20)(pter → p12.2)[10]

American Journal of Medical Genetics

Volumn 120 A, Issue 4, 2003, Pages 533-536

  Sauter, S ^a   Von Beust, G ^a   Burfeind, P ^a   Weise, A ^b   Starke, H ^b   Liehr, T ^b   Zoll, B ^a  

^a UNIVERSITY OF GÖTTINGEN   (Germany)

^b FRIEDRICH SCHILLER UNIVERSITY JENA   (Germany)

Author keywords

Autistic disorder; Chromosomal mosaicism; Mental retardation; Seizures; Terminal deletion chromosome 20

Indexed keywords

ARTICLE; AUTISM; CASE REPORT; CHROMOSOME 20; CHROMOSOME DELETION; CYTOGENETICS; DEVELOPMENTAL DISORDER; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HUMAN CELL; LYMPHOCYTE; MALE; MENTAL DEFICIENCY; MOSAICISM; MYOCLONUS EPILEPSY; PRESCHOOL CHILD; PRIORITY JOURNAL; SEIZURE;

EID: 0042324150     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.20089     Document Type: Article

References (15)

1. Chudoba I, Franke Y, Senger G, Sauerbrei G, Demuth S, Beensen V, Neumann A, Hansmann I, Claussen U. 1999. Maternal UPD 20 in a hyperactive child with severe growth retardation. Eur J Med Genet 7:533-540.
2. Cirillo Silengo M, Lopez Bell G, Biagioli M, Franceschini P. 1988. Partial deletion of the short arm of chromosome 20: 46,XX,del(20)(p11)/46,XX mosaicism. Clin Genet 33:108-110.
3. Eggermann T, Mergenthaler S, Eggermann K, Albers A, Linnemann K, Fusch C, Ranke MB, Wollmann HA. 2001. Identification of interstitial maternal uniparental disomy (UPD) (14) and complete maternal UPD (20) in a cohort of growth retarded patients. J Med Genet 38: 86-89.
4. Fryns JP, Kleczkowska A, Decock P, Massa G, van den Berghe H. 1992. 46,XX/46,XX,del(20)(pter → p12.2) mosaicism limited to fibroblasts associated with MCA/MR and severe growth deficit. Ann Génét 35: 234-236.
5. Gillberg C. 1998. Chromosomal disorders and autism. J Autism Dev Disord 28:415-425.
6. Liehr T, Heller A, Starke H, Rubtsov N, Trifonov V, Mrasek K, Weise A, Kuechler A, Claussen U. 2002. Microdissection based high resolution multicolor banding for all 24 human chromosomes. Int J Mol Med 9: 335-339.
7. Maestrini E, Marlow AJ, Weeks DE, Monaco AP. 1998. Molecular genetic investigations of autism. J Autism Dev Disord 28:427-437.
8. Michaelis RC, Skinner SA, Deason R, Skinner C, Moore CL, Phelan MC. 1997. Interstitial deletion of 20p: New candidate region for Hirschsprung disease and autism? Am J Med Genet 71:298-304.
9. Salafsky IS, MacGregor SN, Claussen U, von Eggeling F. 2001. Maternal UPD 20 in an infant from a pregnancy with mosaic trisomy 20. Prenat Diagn 21:860-863.
10. Senger G, Chudoba I, Friedrich U, Tommerup N, Claussen U, Brondum-Nielsen K. 1997. Prenatal diagnosis of a half-cryptic translocation using chromosome microdissection. Prenat Diagn 17:369-374.
11. Simonoff E. 1998. Genetic counseling in autism and pervasive developmental disorders. J Autism Dev Disord 28:447-456.
12. Smalley SL. 1997. Genetic influences in childhood-onset psychiatric disorders: Autism and attention-deficit/hyperactivity disorder. Am J Hum Genet 60:1276-1282.
13. Wassink TH, Piven J, Patil SR. 2001a. Chromosomal abnormalities in a clinic sample of individuals with autistic disorder. Psychiatric Genetics 11:57-63.
14. Wassink TH, Piven J, Vieland VJ, Huang J, Swiderski RE, Pietila J, Braun T, Beck G, Folstein SE, Haines JL, Sheffield VC. 2001b. Evidence supporting WNT2 as an autism susceptibility gene. Am J Med Genet 105: 406-413.
15. Weise A, Starke H, Tönnies H, Volleth M, Stumm M, Gabriele S, Nietzel A, Claussen U, Liehr T. 2002. Chromosome 2 aberrations in clinical cases characterised by high resolution multicolour banding and region specific FISH probes. J Med Genet 39:434-439.