Screening for cryptic chromosomal abnormalities in patients with mental retardation and dysmorphic facial features using telomere FISH probes [3]

American Journal of Medical Genetics

Volumn 117 A, Issue 3, 2003, Pages 302-303

  Hulley, Bonnie J ^a   Hummel, Marybeth ^a   Wenger, Sharon L ^a  

^a WEST VIRGINIA UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BLOOD SAMPLING; CHROMOSOME 1P; CHROMOSOME 8P; CHROMOSOME ABERRATION; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME REARRANGEMENT; CLINICAL ARTICLE; CROSS HYBRIDIZATION; CYTOGENETICS; DEVELOPMENTAL DISORDER; DNA POLYMORPHISM; FACE DYSMORPHIA; FLUORESCENCE IN SITU HYBRIDIZATION; GENE MUTATION; GENETIC SCREENING; HUMAN; LETTER; MENTAL DEFICIENCY; MOLECULAR PROBE; MUTATIONAL ANALYSIS; PARENT; PRIORITY JOURNAL; PROGNOSIS; TELOMERE; CHROMOSOME 1; CHROMOSOME 2; CHROMOSOME 8; CHROMOSOME DISORDER; CONGENITAL MALFORMATION; FACE; GENE TRANSLOCATION; GENETICS; METHODOLOGY; NUCLEIC ACID PROBE; PATHOLOGY;

CHROMOSOME ABERRATIONS; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 1; CHROMOSOMES, HUMAN, PAIR 2; CHROMOSOMES, HUMAN, PAIR 8; FACE; GENETIC SCREENING; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MENTAL RETARDATION; NUCLEIC ACID PROBES; TELOMERE; TRANSLOCATION, GENETIC;

EID: 0041319171     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

References (9)

1. Anderlid B-M, Schoumans J, Anneren G, Sahlen S, Kyllerman M, Vujic M, Hagberg B, Blennow E, Nordenskjold M. 2002. Subtelomeric rearrangements detected in patients with idiopathic mental retardation. Am J Med Genet 107:275-285.
2. Baker E, Hinton L, Callen DF, Altree M, Dobbie A, Eyre HJ, Sutherland GR, Thompson E, Thompson P, Woollatt E, Haan E. 2002. Study of 250 children with idiopathic mental retardation reveals nine cryptic and diverse subtelomeric chromosome anomalies. Am J Med Genet 107:285-293.
3. Ballif BC, Kashork CD, Shaffer LG. 2000. The promise and pitfalls of telomere region-specific probes. Am J Hum Genet 67:1356-1359.
4. Ballif BC, Heilstedt HA, Knox-DuBois C, Shaffer LG. 2001. Molecular mechanisms of terminal deletions. Am J Hum Genet 69:231S.
5. Clarkson B, Pavenski K, Dupuis L, Kennedy S, Meyn S, Nezarati MM, Nie G, Weksberg R, Withers S, Quercia N, Teebi AS, Teshima I. 2002. Detecting rearrangements in children using subtelomeric FISH and SKY. Am J Med Genet 107:267-274.
6. Knight SJL, Regan R, Nicod A, Horsley SW, Kearney L, Homfray T, Winter RM, Bolton P, Flint J. 1999. Subtle chromosomal rearrangements in children with unexplained mental retardation. Lancet 354:1676-1681.
7. Reish O, Berry SA, Hirsch B. 1995. Partial monosomy of chromosome lp36.3: characterization of critical region and delineation of a syndrome. Am J Med Genet 59:467-475.
8. Rossi E, Piccini F, Zollino M, Neri G, Caselli D, Tenconi R, Castellan C, Carrozzo R, Danesin C, Zuffardi O, Ragusa A, Castiglia L, Galesi O, Greco D, Romano C, Peirluigi M, Perfumo C, Di Rocco M, Faravelli F, Bricarelli F, Bonaglia M, Bedeschi M, Borgatti R. 2001. Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations. J Med Genet 38:417-420.
9. Slavotinek A, Rosenberg M, Knight S, Gaunt L, Fergusson W, Killoran C, Clayton-Smith J, Kingston H, Campbell RH, Flint J, Donnai D, Beisecker L. 1999. Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres. J Med Genet 36:405-411.