Duplication within chromosome region 15q11 q13 in a patient with similarities to Prader-Willi Syndrome confirmed by region specific and band specific fish

Genetic Counseling

Volumn 10, Issue 2, 1999, Pages 123-132

  Engelen, J J M ^a   Loots, W J G ^a   Albrechts, J C M ^a   Schrander Stumpel, C T R M ^a   Dirckx, R ^a   Smeets, H J M ^a   Hamers, A J H ^a   Geraedts, J P M ^a  

^a MAASTRICHT UNIVERSITY   (Netherlands)

Author keywords

Chromosome 15; Insertion duplication; Microdissection; Region specific paint

Indexed keywords

DNA POLYMERASE; MICROSATELLITE DNA;

ARTICLE; CASE REPORT; CHROMOSOME 15Q; CHROMOSOME DUPLICATION; CHROMOSOME MICRODISSECTION; CHROMOSOME PAINTING; CLINICAL FEATURE; DEVICE; DNA PROBE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HUMAN CELL; MALE; MENTAL DEFICIENCY; OBESITY; PRADER WILLI SYNDROME;

CHILD; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 15; DNA METHYLATION; DNA PROBES; ELECTROPHORESIS, AGAR GEL; GENE DELETION; GENE DUPLICATION; GENETIC MARKERS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MALE; MICROSATELLITE REPEATS; POLYMERASE CHAIN REACTION; PRADER-WILLI SYNDROME;

EID: 0032782548     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (30)

1. BERRY R., MCGAVRAN L., ROBINSON J., STALEY L.: Familial duplication of proximal 15q in Prader- Willi individual and her normal father. Am. J. Hum. Genet., 1987, 41, A114.
2. BROOKWELL R., VELEBA A.: Proximal 15q variant with normal phenotype in three unrelated individuals. Clinical Genetics, 1987, 31, 311-314.
3. BUITING K., SAITOH S., GROSS S., DITTRICH B., SCHWARTZ S., NICHOLLS R.D., HORSTHEMKE B.: Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15. Nature Genet., 1995, 9, 395-400.
4. CLAYTON-SMITH J., WEBB T., CHENG X.J., PEMBREY M.E., MALCOLMS.: Duplication of chromosome 15 in the region 15q11-13 in a patient with developmental delay and ataxia with similarities to Angelman syndrome. J. Med. Genet., 1993, 30, 529-531.
5. CONROY J.M., GREBE T.A., BECKER L.A., TSUCHIYA K., NICHOLLS R.D., BUITING K., HORSTHEMKE B., CASSIDY S.B.: Balanced translocation 46,XY,t(2;15)(q37,2;q11.2) associated with atypical Prader-Willi syndrome. Am. J. Hum. Genet., 1997, 61, 388-394.
6. CRAWFORD E.C., LETHCO B.A., BEALER D., SCHROER R.J., CLARKSON K.B., PHELAN M.C.: Interstitial duplication and triplication of 15q11- q13 confirmed by fluorescence in situ hybridization. Am. J. Hum. Genet., 1995, 57, 618.
7. DE FRANCE H.F., BEEMER F.A., IPPEL P.F.: Duplication in chromosome 15q in a boy with the Prader-Willi syndrome: further cytogenetic confusion. Clinical Genetics, 1984, 26, 379-382.
8. DITTRICH B., BUITING K., GROSS S., HORSTHEMKE B.: Characterization of a methylation imprint in the Prader-Willi syndrome chromosome region. Hum. Molec. Genet., 1993, 2, 1995-1999.
9. DRISCOLL D.J., WATERS M.F., WILLIAMS C.A., ZORI R.T., GLENN C.C., AVIDANO K.M., NICHOLS R.D.: A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromes. Genomics, 1992, 13, 917-924.
10. DUTRILLAUX B., VIEGAS-PEQUIGNOT E.: High resolution R- and G- banding in the same preparation. Hum. Genet., 1988, 57, 91-93.
11. ENGELEN J.J.M., ALBRECHTS J.C.M., LOOTS W.J.G., HOLLANDERS-CROMBACH H.T.M., HAMERS A.J.H., GERAEDTS J.P.M.: Application of micro-FISH to delineate deletions. Cytogenet Cell Genet., 1996, 75, 167-171.
12. FUHRMANN-RIEGERA., KÖHLER A., FUHRMANN W.: Duplication or insertion in 15q11-13 associated with mental retardation - short stature and obesity - Prader-Willi or Cohen syndrome? Clinical Genetics, 1984, 25, 347-352.
13. GLENN C.C., SAITOH S., JONG M.T.C., FILBRANDT M.M., SURTI U., DRISCOLL D.J., NICHOLLS R.D.: Gene structure, DNA methylation and imprinted expression of the human SNRPN gene. Am. J. Hum. Genet., 1996, 58, 335-346.
14. GUAN X.Y., CARGILLE C.B., ANZICK S.L., THOMPSON F.H., MELTZER P.S., BITTNER M.L., TAETLE R., MCGILL J.R., TRENT J.M.: Chromosome microdissection identifies cryptic sites of DNA sequence amplification in human ovarian carcinoma. Cancer Res., 1995, 55, 3380-3385.
15. HIRSCH B., HEGGIE P., MCCONNELL K.: Inherited direct duplication of 15q11→15q13 including loci D15S11→GABRB3 in a child with autism. Am. J. Hum. Genet., 1995, 57, 646.
16. JALAL S.M., PERSONS D.L., DEWALD G.W., LINDOR N.M.: Form of 15q proximal duplication appears to be a normal euchromatic variant. Am. J. Med. Genet., 1994, 52, 495-497.
17. JALAL S.M., SPURBECK J.L. SCHAD C., LINDOR N.M., DEWALD G. W.: A form of duplication may be a normal euchromatic variant. Am. J. Med. Genet., 1996, 62, 206
18. KUWANO A., MUTIRANGURA A., DITTRICH B., BUITING K., HORSTHEMKE B., SAITOH S., NIIKAWA N., LEDBETTER S.A., GREENBERG F., CHINAULT A.C., LEDBETTER D.H.: Molecular dissection of the Prader-Willi/ Angelman syndrome region (15q11-13) by Yac cloning and FISH analysis. Hum. Mol. Genet., 1992, 1/6, 417-425.
19. LI S., TUCK-MULLER C.M., MARTINEZ J.E., YAN Q., ROWLEY E.R., ZHAO Y., WERTELECK W., CHEN H.: A boy with Prader-Willi syndrome due to familial transmission of duplication of chromosome 15 (q11-13). Am. J. Med. Genet., 1996, 62, 206-207.
20. LICHTER P., CREMER T., BORDEN J., MANUELIDIS L., WARD D.C.: Delineation of individual human chromosomes in metaphase and interphase cells by in situ suppression hybridization using recombinant DNA libraries. Hum. Genet., 1988, 88, 224-234.
21. LUDOWESE C.J., THOMPSON K.J., SEKHON G.S., PAULI R.M.: Absence of predictable phenotypic expression in proximal 15q duplications. Clinical Genetics. 1991, 40, 194-201.
22. NICHOLLS R.D.: Invited editorial: New insights reveal complex mechanisms involved in genomic imprinting. Am. J. Hum. Genet., 1984, 54, 733-740.
23. PETTIGREW A.L., GOLLIN S.M., GREENBERG F., RICCARDI V.M., LEDBETTER D.: Duplication of proximal 15q as a cause of Prader-Willi syndrome. Am. J. Med. Genet., 1987, 28, 791-802.
24. RAUCH L.A., NEVIN N.C.: Duplication of 15q11.2-15q13 in five cases with different phenotypes. J. Med. Genet., 1991, 28, 573-574.
25. SHOHAT M., SHOHAT T., RIMOIN D.L., MOHANDAS T., HECKENLIVELY J., MAGENIS R.E., DAVIDSON M.B., KORENBERG J.R.: Rearrangement of chromosome 15 in the region q11.2q12 in an individual with obesity syndrome and her normal mother. Am. J. Med. Genet., 1990, 37, 173-177.
26. SUTCLIFFE J.S., NAKAO M., CHRISTIAN S., ORSTAVICK K.H., TOMMERUP N., LEDBETTER D.H., BEAUDET: Deletions of a differentially methylated CpG-island at the SNRPN gene define a putative imprinting control region. Nat. Genet., 1994, 8, 52-58.
27. SCHULZE A., HANSSEN C., SKAKKEBAEK N.E., BRONDUM-NIELSEN K., LEDBETTER D.H., TOMMERUP N.: Exclusion of SNRPN as a major determinant of Prader-Willi syndrome by a translocation breakpoint. Nat. Genet., 1996, 12, 452-454.
28. TELENIUS H., CARTER N.P., BEBB C.E., NORDENSKJOLD M., PONDER B.A., TUNNACLIFFE A.: Degenerate oligonucleotide-primed PCR: general amplification of target DNA by a single degenerate primer. Genomics, 1992, 13, 718-725.
29. TUROLLA L., BACCICHETTI C., ARTIFONI L., LENZINI E., LESZL A., TENCONI R.: A new family with extra material on proximal 15q. Ann. Génét., 1989, 32230-232.
30. WEVRICK R., KERNS J.A., FRANCKE U.: Identification of a novel paternally expressed gene in the Prader-Willy syndrome region. Hum. Molec. Genet. 1994, 3, 1877-1882.