Molecular and cytogenetic characterization of a recurrent unbalanced translocation (4;21)(p16.3;q22.1): Relevance to the Wolf-Hirschhorn and Down syndrome critical regions

American Journal of Medical Genetics

Volumn 63, Issue 2, 1996, Pages 366-372

  Sebastio, Gianfranco ^a   Perone, Lucia ^a   Guzzetta, Vito ^a   Sebastio, Lucia ^b   Vicari, Laura ^b   Della Casa, Roberto ^a   Gurrieri, Fiorella ^d   Zappata, Stefania ^d   Pomponi, M Grazia ^d   Mazzei, Attilio ^c   Neri, Giovanni ^d   Andria, Generoso ^a   Brahe, Christina ^d  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b CARDARELLI HOSPITAL   (Italy)

^c Consultorio Familiare dell'Università Cattolica ^*  (Italy)

^d CATHOLIC UNIVERSITY   (Italy)

Author keywords

chromosome 4p; Down syndrome; FISH; Wolf Hirschhorn syndrome

Indexed keywords

ANEUPLOIDY; ARTICLE; CHILD; CHROMOSOME 16P; CHROMOSOME 21Q; CHROMOSOME 4P; CHROMOSOME TRANSLOCATION 4; CLINICAL ARTICLE; CYTOGENETICS; DOWN SYNDROME; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; MALE; MOLECULAR GENETICS; PRIORITY JOURNAL; WOLF HIRSCHHORN SYNDROME;

ABNORMALITIES, MULTIPLE; CELLS, CULTURED; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 21; CHROMOSOMES, HUMAN, PAIR 4; DOWN SYNDROME; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; MALE; MONOSOMY; PEDIGREE; RECURRENCE; SYNDROME; TRANSLOCATION, GENETIC; TRISOMY;

CANIS;

EID: 0029982634     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960517)63:2<366::AID-AJMG8>3.0.CO;2-R     Document Type: Article

References (15)

1. Chumakov I, Rigault P, Guillou S, Ougen P, Billaut A, Guasconi G, Gervy P, LeGall I, Soularue P, Grinas L, Bougueleret L, Bellané-Chantelot C, Lacroix B, Barillot E, Gesnouin P, Pook S, Vaysseix G, Frelat G, Schmitz A, Sambucy JL, Bosch A, Estivill X, Weissenbach J, Vignal A, Riethman H, Cox D, Patterson D, Gardiner K, Hattori M, Sakaki Y, Ichikawa H, Ohki M, Le Paslier D, Heilig R, Antonarakis S, Cohen D (1992): Continuum of overlapping clones spanning the entire human chromosome 21q. Nature 356: 380-387.
2. Dallapiccola B, Mandich P, Bellone E, Selicorni A, Mokin V, Ajmar F, Novelli G (1994): Parental origin of chromosome 4p deletion in Wolf-Hirschhorn syndrome. Am J Hum Genet 47:921-924.
3. Delabar JM, Theophile D, Rahmani Z, Chettouh Z, Blouin JL, Prieur M, Noel B, Sinet PM (1993): Molecular mapping of twenty-four features of Down syndrome on chromosome 21. Eur J Hum Genet 1: 114-124.
4. Dufresne-Zacharia MC, Dahmane N, Theophile D, Orti R, Chettouh Z, Sinet PM, Delabar JM (1994): 3.6-Mb genomic and YAC physical map of the Down syndrome chromosome region on chromosome 21. Genomics 19:462-469.
5. Dutrillaux B, Lejeune J (1971): Sur le novelle technique d'analyse du caryotype humain. C R Acad Sci (Paris), série D 272:2638-2640.
6. Duttrillaux B, Viegas E, Pequignot L (1981): High resolution R and G banding on the same separation. Hum Genet 57:93-95.
7. Estabrooks LL, Lamb AL, Aylsworth AS, Callanan NP, Rao KW (1994): Molecular characterization of chromosome 4p deletions resulting in Wolf-Hirschhorn syndrome. J Med Genet 31:103-107.
8. Fuscoe JC, Fenwick RG, Ledbetter DH, Caskey CT (1983): Deletion and amplification of the HGPRT locus in Chinese hamster cells. Mol Cell Biol 3:1086-1096.
9. Gandelman KU, Gibson L, Meyn MS, Yang Feng TL (1992): Molecular definition of the smallest region of deletion overlap in the Wolf-Hirschhorn syndrome. Am J Hum Genet 51:571-578.
10. Korenberg JR, Chen XN, Schipper R, Sun Z, Gonsky R, Gerwehr S, Carpenter N, Daumer C, Dignan P, Disteche C, Graham JM Jr, Hugdins L, McGillivray B, Miyazaki K, Ogasawara N, Park JP, Pagon R, Peuschel S, Sack G, Say B, Schuffenhauer S, Soukup S, Yamanaka T (1994): Down syndrome phenotypes: The consequences of chromosomal imbalance. Proc Natl Acad Sci USA 91: 4997-5001.
11. Lurie IW, Lazjuk GI, Ussova YI, Presman EB, Gurevich DB (1980): The Wolf-Hirschhorn syndrome. Clin Genet 17:375-384.
12. Nelson DL, Ledbetter SA, Corbo L, Victoria MF, Ramirez-Solis R, Webster TD, Ledbetter DH, Caskey CT (1989): Alu polymerase chain reaction: A method for rapid isolation of human-specific sequences from complex DNA sources. Proc Natl Acad Sci USA 86: 6686-6690.
13. Scott HS, Litjens T, Hopwood JJ, Morris CP (1992): PCR detection of two RFLPs in exon 1 of the α-L-iduronidase (IDUA) gene. Hum Genet 90:327.
14. Wilson MG, Towner JW, Coffin GS, Ebbin AJ, Siris E, Brager P (19810: Genetic and clinical studies in 13 patients with the Wolf-Hirschhorn syndrome (del(4p)). Hum Genet 59:297-307.
15. Zackai EH, McDonald-McGinn DM, Spinner N, Alther MR, Bengtsson U, Wasmuth JJ (1994): Classical Wolf-Hirschhorn syndrome confirmed molecularly despite normal results using commercially available probes: redefinition of critical region. Am J Hum Genet 53:A47.