Triplication of 15q11-q13 with inv dup(15) in a female with developmental delay

Journal of Medical Genetics

Volumn 35, Issue 5, 1998, Pages 425-428

  Long, Fiona L ^a   Duckett, David P ^b   Billam, Lara J ^b   Williams, Denise K ^b   Crolla, John A ^a  

^a SALISBURY DISTRICT HOSPITAL   (United Kingdom)

^b UNIVERSITY HOSPITALS OF LEICESTER NHS TRUST   (United Kingdom)

Author keywords

Inv dup(15) chromosome; Proximal 15q triplication

Indexed keywords

MICROSATELLITE DNA;

ARTICLE; CASE REPORT; CHROMOSOME 15Q; CHROMOSOME DUPLICATION; CHROMOSOME INVERSION; DICENTRIC CHROMOSOME; DNA PROBE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE LOCUS; GROWTH RETARDATION; HAPPY PUPPET SYNDROME; HUMAN; HUMAN CELL; NUMERICAL CHROMOSOME ABERRATION; PRADER WILLI SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL;

EID: 0031920916     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.35.5.425     Document Type: Article

References (18)

1. Knoll JHM, Nicholls RD, Magenis RE, Graham JM Jr, Lalande M, Latt SA. Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion. Am J Med Genet 1989;32:285-90.
2. De France HF, Beemer FA, Ippel PF. Duplication in chromosome 15q in a boy with the Prader-Willi syndrome; further cytogenetic confusion. Clin Genet 1984;26:379-82.
3. Shohat M, Shohat T, Rimoin DL, et al. Rearrangement of chromosome 15 in the region q11.2-q12 in an individual with obesity syndrome and her normal mother. Am J Med Genet 1990;37:173-7.
4. Rauch LA, Nevin NC. Duplication of 15q11.2-15q13 in five cases with different phenotypes. J Med Genet 1991;28:573-4.
5. Bundey S, Hardy C, Vickers S, Kilpatrick MW, Corbett JA. Duplication of the 15q11-13 region in a patient with autism, epilepsy, and ataxia. Dev Med Child Neurol 1994;36:736-42.
6. Clayton-Smith J, Webb T, Cheng XJ, Pembrey ME, Malcolm S. Duplication of chromosome 15 in the region 15q11-q13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome. Am J Med Genet 1993;30:529-31.
7. Abeliovich D, Dagan J, Werner M, Lerer I, Shapira Y, Meiner V. Simultaneous formation of inv dup(15) and dup(15) in a girl with developmental delay: origin of the abnormal chromosome. Eur J Hum Genet 1995;49:49-55.
8. Cook EH Jr, Lindreen Y, Levarthal BL, et al. Autism or atypical autism in maternally but not paternally derived proximal 15q duplication. Am J Hum Genet 1997;60:928-34.
9. Buckton KE, Spowart G, Newton MS, Evans HJ. Forty four patients with an additional "marker" chromosome. Hum Genet 1985;69:353-70.
10. Webb T. Inv dup(15) supernumerary marker chromosomes. J Med Genet 1994;31:585-94.
11. Crolla JA, Harvey JF, Sitch FL, Dennis NR. Supernumerary marker 15 chromosomes: a clinical, molecular and FISH approach to diagnosis and prognosis. Hum Genet 1995;95-161-70.
12. Cheng SD, Spinner NB, Zackai EH, Knoll JHM. Cytogenetic and molecular characterisation of inverted duplicated chromosomes 15 from 11 patients. Am J Hum Genet 1994;55:753-9.
13. Leana-Cox J, Jenkins L, Palmer CG, et al. Molecular cytogenetic analysis of inv dup(15) chromosomes, using probes specific for the Prader-Willi/Angelman syndrome region - clinical implications. Am J Hum Genet 1994;54:748-56.
14. Schinzel AA, Brecevic L, Bernasconi F, et al. Intrachromosomal triplication of 15q11-q13. J Med Genet 1994;31:798-803.
15. Holowinsky S, Black SH, Howard-Peebles PN, et al. Triplication 15q11-q13 in two unrelated patients with hypotonia, cognitive delays and visual impairment. Am J Hum Genet 1993;53:A125.
16. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988;16:1215.
17. Hudson TJ, Engelstein M, Lee MK, et al. Isolation and chromosomal assignment of 100 highly informative human simple sequence polymorphisms. Genomics 1992;13:622-9.
18. ISCN (1995). In: Mitelman F, ed. An international system for human cytogenetic nomenclature. Basel: Karger, 1995.