Cytogenetic and molecular analysis of inv dup(15) chromosomes observed in two patients with autistic disorder and mental retardation

American Journal of Medical Genetics

Volumn 61, Issue 2, 1996, Pages 182-187

  Flejter, Wendy L ^a   Bennett Baker, Pamela E ^b,c   Ghaziuddin, Mohammad ^b   McDonald, Marie ^c   Sheldon, Susan ^c   Gorski, Jerome L ^b,c  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF MICHIGAN   (United States)

^c UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

Author keywords

chromosome 15 biparental inheritance; inv dup(15) chromosomes

Indexed keywords

ADOLESCENT; ARTICLE; CASE REPORT; CHROMOSOME 15; CHROMOSOME 15Q; CHROMOSOME DUPLICATION; CHROMOSOME INVERSION; FEMALE; GROWTH RETARDATION; HUMAN; INFANTILE AUTISM; INHERITANCE; MALE; MENTAL DEFICIENCY; PRIORITY JOURNAL; SCHOOL CHILD; SEIZURE; SUPERNUMERARY CHROMOSOME;

ADOLESCENT; ADULT; AUTISTIC DISORDER; CHILD; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 15; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INVERSION, CHROMOSOME; KARYOTYPING; MALE; MENTAL RETARDATION; MICROSATELLITE REPEATS; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC;

EID: 0030070898     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960111)61:2<182::AID-AJMG17>3.0.CO;2-Q     Document Type: Article

References (21)

1. Buckton KE, Spowart G, Newton MS, Evans HJ (1985): Forty-four probands with an additional "marker" chromosome. Hum Genet 69:353-370.
2. Cheng S-D, Spinner NB, Zackai EH, Knoll JHM (1994): Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients. Am J Hum Genet 55:753-759.
3. Flejter WL, Bennett-Baker PE, Barcroft CL, Kiousis S, Chamberlain JS (1995): Region-specific cosmids and STRPs identified by chromosome microdissection and FISH. Genomics 25:413-420.
4. Ghaziuddin M, Sheldon S, Venkataraman S, Tsai L, Ghaziuddin N (1993): Autism associated with tetrasomy 15: A further report. Eur J Child Adolesc Psychiatry 2:226-230.
5. Kuwano A, Mutirangura A, Dittrich B, Suiting K, Horsthemke B, Saitoh S, Niikawa N (1992): Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11-q13) by YAC cloning and FISH analysis. Hum Mol Genet 6:417-425.
6. Leana-Cox J, Jenkins L, Palmer CG, Plattner R, Sheppard L, Flejter WL, Zackowski J, Tsein F, Schwartz S (1994): Molecular cytogenetic analysis of inv dup(15) chromosomes using probes specific for the Prader-Willi/Angelman syndrome region. Am J Hum Genet 54:748-756.
7. Malcolm S, Donlon TA (1994): Report of the second international workshop on human chromosome 15 mapping 1994. Cytogenet Cell Genet 67:1-22.
8. Maraschio P, Zuffardi O, Bernardi F, Bozzola M, De Paoli C, Fonatsch C, Flatz SD, Ghersini L, Gimelli G, Loi M, Lorini R, Peretti D, Poloni L, Tonetti D, Vanni R, Zamboni G (1981): Preferential maternal derivation in inv dup(15): Analysis of eight new cases. Hum Genet 57:345-350.
9. Maraschio P, Cuoco C, Gimelli G, Zuffardi O, Tiepolo L (1988): Origin and clinical significance of inv dup(15). In Danil A (ed): "The cytogenetics of mammalian autosomal rearrangements." New York: Alan R Liss, pp 615-634.
10. Mattei MG, Souiah N, Mattei JF (1984): Chromosome 15 anomalies and the Prader-Willi syndrome: Cytogenetic analysis. Hum Genet 66:313-334.
11. 3 (GABRB3) locus in the Angelman/Prader-Willi region (AS/PWS) of chromosome 15. Hum Mol Genet 1:67.
12. Nicholls RD, Knoll JH, Glatt K, Hersh JH, Brewster TD, Graham JM Jr, Wurster-Hill D, Wharton R, Latt SA (1989): Restriction fragment length polymorphisms within proximal 15q and their use in molecular cytogenetics and the Prader-Willi syndrome. Am J Med Genet 33:66-77.
13. Robinson WP, Wagstaff J, Bernasconi F, Baccichetti C, Artifoni L, Franzoni E, Suslak L, Shih L-Y, Aviv H, Schinzel AA (1993a): Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome. J Med Genet 30:756-760.
14. Robinson WP, Binkert F, Gine R, Vazquez C, Muller W, Rosenkranz W, Schinzel A (1993b): Clinical and molecular analysis of five inv dup(15) patients. Eur J Hum Genet 1:37-50.
15. Schweizer D, Ambros P, Andrle M (1978): Modification of DAPI banding on human chromosomes by prestaining with a DNA-binding oligopeptide. Exp Cell Res 111:327-332.
16. Seabright M (1971): A rapid banding technique for human chromosomes. Lancet 2:971-972.
17. Shibuya Y, Tonoki H, Kajii N, Niikawa N (1991): Identification of a marker chromosome as inv dup(15) by molecular analysis. Clin Genet 40:233-236.
18. Stetton G, Sroka-Zaczek B, Corson VL (1981): Prenatal detection of an accessory chromosome identified as an inversion duplication (15). Hum Genet 57:357-359.
19. Webb T (1994): Inv dup(15) supernumerary marker chromosomes. J Med Genet 31:585-594.
20. Wisniewski L, Hassold T, Heffelfinger J, Higgins JV (1979): Cytogenetic and clinical studies in five cases of inv dup(15). Hum Genet 50:259-270.
21. Wisniewski LP, Witt M, Ginsberg-Fellner F, Wilner J, Desnick RJ (1980): Prader-Willi syndrome and a bisatellited derivative of chromosome 15. Clin Genet 18:42-47.