A 6-year experience demonstrates the utility of screening for both cytogenetic and FMR-1 abnormalities in patients with mental retardation

Genetic Testing

Volumn 3, Issue 3, 1999, Pages 291-296

  White, Beverly J ^a   Ayad, Mervat ^a   Fraser, Allan ^a   Entwistle, Tom ^a   Winkler, Shelly ^a   Sbeiti, Adam ^a   Fenwick, Ray ^a  

^a QUEST DIAGNOSTICS NICHOLS INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 7Q; CHROMOSOME ABERRATION; CONTROLLED STUDY; COST UTILITY ANALYSIS; DIAGNOSTIC VALUE; FEMALE; GENE DELETION; GENETIC SCREENING; HUMAN; MAJOR CLINICAL STUDY; MALE; MENTAL DEFICIENCY;

BLOTTING, SOUTHERN; CHROMOSOME ABERRATIONS; CHROMOSOME BANDING; CHROMOSOMES, HUMAN, PAIR 7; DNA MUTATIONAL ANALYSIS; FEMALE; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; GENETIC SCREENING; HUMANS; KARYOTYPING; MALE; NERVE TISSUE PROTEINS; RETROSPECTIVE STUDIES; RNA-BINDING PROTEINS; TRINUCLEOTIDE REPEAT EXPANSION; X CHROMOSOME;

EID: 0032820319     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/109065799316617     Document Type: Article

References (12)

1. BEHJATI, F., MULLARKEY, M., BERGBAUM, A., BERRY, A.C., and DOCHERTY, Z. (1997). Chromosome deletion 17p11.2 (Smith-Magenis syndrome) in seven new patients, four of whom had been referred for fragile-X investigation. Clin. Genet. 51, 71-74.
2. CARPENTER, N.J., and PRITCHARD, J.K. (1994). Detection of fragile X syndrome using molecular and cytogenetic techniques. Assoc. Cytogenetic Technologists Annual Meeting. Abstract B1.
3. CURRY, C.J., STEVENSON, R.E., AUGHTON, D., BYRNE, J., CAREY, J.C., CASSIDY, S., CUNNIFF, C., HOWARD-PEEBLES, P., SHERMAN, S., TAYLOR, A., and WULFSBERG, E. (1997). Evaluation of mental retardation: recommendations of a Consensus Conference: American College of Medical Genetics. Am. J. Med. Genet. 72, 468-477.
4. DEWALD, G.W., BUCKLEY, D.D., SPURBECK, J.L., and JALAL, S.M. (1992). Cytogenetic guidelines for fragile X studies tested in routine practice. Am. J. Med. Genet. 44, 816-821.
5. ERSTER, S.H., BROWN, W.T., GOONEWARDENA, P., DOBKIN, C.S., JENKINS, E.C., and PERGOLIZZI, G. (1992). Polymerase chain reaction analysis of fragile X mutations. Hum. Genet. 90, 55-61.
6. MARINI, T., PFLUEGER, S., JACKSON, A., NABER, S., KARPELLS, S., and NAEEM, R. (1997). A five-year experience with fragile X testing. Setting laboratory standards of practice and a cost-effective protocol. Diagn. Mol. Pathol. 6, 161-166.
7. - analysis. Ann. Clin. Lab Sci. 26, 323-328.
8. PARK, V., GRAHAM, J.M., JR., JONES, M.C., KABACK, M.M., MOESCHLER, J., SCHAEFER, G.B., SCHWARTZ, S., TARLETON, J., and OPITZ, J. (1994). Policy Statement: American College of Medical Genetics. Fragile X syndrome: diagnostic and carrier testing. Am. J. Med. Genet. 53, 380-381.
9. ROUSSEAU, F., HEITZ, D., BIANCALANA, V., BLUMENFELD, S., KRETZ, C., BOUE, J., TOMMERUP, N., VAN DER HAGEN, C., DELOZIER-BLANCHET, C., CROQUETTE, M.-F., GILGENKRANTZ, S., JALBERT, P., VOELCKEL, M.-A., OBERLE, I., and MANDEL, J.-L. (1991). Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation. New Engl. J. Med. 325, 1673-1681.
10. SCHINZEL, A. (1994). Human Cytogenetics Database. Oxford University Press, New York.
11. SCHRANDER-STUMPEL, C., GERVER, W.J., MEYER, H., ENGELEN, J., MULDER, H., and FRYNS, J.P. (1994). Prader-Willi like phenotype in fragile X syndrome. Clin. Genet. 45, 175-180.
12. VOULLAIRE, L.E., WEBB, G.C., and LEVERSHA, M. (1989). Fragile X testing in a diagnostic cytogenetics laboratory. J. Med. Genet. 26, 439-442.