Subtelomeric chromosomal rearrangements detected in patients with idiopathic mental retardation and dysmorphic features

Genetic Counseling

Volumn 16, Issue 2, 2005, Pages 129-138

  Caliskan, M O ^a   Karauzum, S B ^a   Mihci, E ^a   Tacoy, S ^a   Luleci, G ^a   Luleci, Guven ^a  

^a AKDENIZ UNIVERSITY   (Turkey)

Author keywords

Cryptic subtelomeric aberrations; Dysmorphic features; Fish; Idiopathic mental retardation

Indexed keywords

ARTICLE; CHILD; CHROMOSOME 10P; CHROMOSOME 18P; CHROMOSOME 2Q; CHROMOSOME ABERRATION; CHROMOSOME DELETION; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL MALFORMATION; CYTOGENETICS; FAMILIAL DISEASE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC COUNSELING; HUMAN; IDIOPATHIC DISEASE; INCIDENCE; KARYOTYPE; MALE; MENTAL DEFICIENCY; PERCEPTION DEAFNESS; PRENATAL DIAGNOSIS; TELOMERE; TERATOLOGY;

ABNORMALITIES, MULTIPLE; CHILD; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 10; CHROMOSOMES, HUMAN, PAIR 18; CHROMOSOMES, HUMAN, PAIR 2; CRANIOFACIAL ABNORMALITIES; DEAFNESS; DERMOSCOPY; FEMALE; GENE REARRANGEMENT; GENOTYPE; HUMANS; IMAGE PROCESSING, COMPUTER-ASSISTED; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; KARYOTYPING; MALE; MENTAL RETARDATION; MIDDLE AGED; TELOMERE; TRANSLOCATION, GENETIC;

EID: 22444451052     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (22)

1. ANDERLID B.M., SCHOUMANS J., ANNEREN G., SAHLEN S., KYLLERMAN M., VUJIC M., HAGBERG B., BLENNOW E., NORDENSKJOLD M.: Subtelomeric rearrangements detected in patients with idiopathic mental retardation. Am. J. Med. Genet., 2002, 107, 275-284.
2. BACINO C.A., KASHORK C.D., DAVINO N.A., SHAFFER L.G.: Detection of a cryptic translocation in a family with mental retardation using FISH and telomere region-specific probes. Am. J. Med. Genet., 2000, 92, 250-255.
3. BAKER E., HINTON L., CALLEN D.F., ALTREE M., DOBBIE A., EYRE H.J., SUTHERLAND G.R., THOMPSON E., THOMPSON P., WOOLLATT E., HAAN E.: Study of 250 children with idiopathic mental retardation reveals nine cryptic and diverse subtelomeric chromosome anomalies. Am. J. Med. Genet., 2002, 107, 285-293.
4. BIJLSMA E.K., AALFS C.M., SLUITJER S., OUDE LUTTIKHUS M.E., TREMBATH R.C., HOOVERS J.M., HENNEKAM R.C.: Familial cryptic translocation between chromosomes 2qter and Sqter: further delineation of the Albright hereditary osteodystrophy-like phenotype. J. Med. Genet., 1999, 36, 604-609.
5. CLARKSON B., PAVENSKI K., DUPUIS L., KENNEDY S., MEYN S., NEZARATI M.M., NIE G., WEKSBERG R., WITHERS S., QUERCIA N., TEEBI A.S., TESHIMA I.: Detecting rearrangements in children using subtelomeric FISH and SKY. Am. J. Med. Genet., 2002, 107, 267-274.
6. DE VRIES B.B., WHITE S.M., KNIGHT S.J., REGAN R., HOMFRAY T., YOUNG I.D., SUPER M., MCKEOWN G., SPLITT M., QUARRELL O.W., TRAINER A.H., NIERMEIJER M.F., MALCOLM S., FLINT J., HURST J.A., WINTER R.M.: Clinical studies on submicroscopic subtelomeric rearrangements: a checklist. J. Med. Genet., 2001, 38, 145-150.
7. FAN Y.S., ZHANG Y., SPEEVAK M., FARRELL S., JUNG J.H., SIU V.M.: Detection of submicroscopic aberrations in patients with unexplained mental retardation by fluorescence in situ hybridization using multiple subtelomeric probes. Genet. Med., 2001, 3, 416-421.
8. GRANZOW M., POPP S., KELLER M., HOLTGREVE-GREZ H., BROUGH M., SCHOELL B., RAUTERBERG-RULAND I., HAGER H.D., TARIVERDIAN G., JAUCH A.: Multiplex FISH telomere integrity assay identifies an unbalanced cryptic translocation der(5)t(3;5) (q27;p15.3) in a family with three mentally retarded individuals. Hum. Genet., 2000, 107, 51-57.
9. JOLY G., LAPIERR J.M, OZILOU C., GOSSET P., AURIAS A., DE BLOIS M.C, PRIEUR M., RAOUL O., COLLEAUX L., MUNNICH A., ROMANO S.P., VEKEMANA M., TURLEAU C.: Comparative genomic hybridisation in mentally retarded patients with dysmorphic features and a normal karyotype. Clin. Genet., 2001, 60, 212-219.
10. JOYCE C.A., DENNIS N.R., COOPER S., BROWNE C.E.: Subtelomeric rearrangements: results from a study of selected and unselected probands with idiopathic mental retardation and control individuals by using high-resolution G-banding and FISH. Hum. Genet., 2001, 109, 440-451.
11. KNIGHT S.J., LESE C.M., PRECHT K.S., KUC J., NING Y., LUCAS S., REGAN R., BRENAN M., NICOD A., LAWRIE N.M., CARDY D.L., NGUYEN H., HUDSON T.J., RIETHMAN H.C., LEDBETTER D.H., FLINT J.: An optimized set of human telomere clones for studying telomere integrity and architecture. Am. J. Hum. Genet., 2000, 67, 320-332.
12. KNIGHT S.J., FLINT J.: Perfect endings: a review of subtelomeric probes and their use in clinical diagnosis. J. Med. Genet., 2000, 37, 401-409.
13. LULECI G., BASARAN S., BAGCI G., KESER I.: Kromozomlarin boyanmasi ve bantlanmasi. In: Sitogenetik Uygulama Yöntemleri. Meteksan, 1990, 1-33.
14. ROSENBERG M., HUI L., MA J., NUSBAUM H.C., CLARK K., ROBINSON L., DZIADZIO L., SWAIN P.M., KEITH T., HUDSON T.J., BIESECKER L.G., FLINT J.: Characterization of short tandem repeats from thirty-one human telomeres. Genome Res., 1997, 7, 917-923.
15. SACCONE S., DE SARIO A., WIEGANT J., RAAP A.K., DELLA VALLE G., BERNARDI G.: Correlations between isochores and chromosomal bands in the human genome. Proc. Natl. Acad. Sci. USA., 1993, 90, 11929-11933.
16. SACCONE S., DE SARIO A., DELIA VALLE G., BERNARDI G.: The highest gene concentrations in the human genome are in telomeric bands of metaphase chromosomes. Proc. Natl. Acad. Sci. USA., 1992, 89, 4913-4917.
17. SISMANI C., ARMOUR J.A., FLINT J., GIRGALLI C., REGAN R., PATSALIS P.C.: Screening for subtelomeric chromosome abnormalities in children with idiopathic mental retardation using multiprobe telomeric FISH and the new MAPH telomeric assay. Eur. J. Hum. Genet., 2001, 9, 527-532.
18. SLAVOTINEK A., ROSENBERG M., KNIGHT S., GAUNT L., FERGUSSON W., KILLORAN C., CLAYTON-SMITH J., KINGSTON H., CAMPBELL R.H., FLINT J., DONNAI D., BIESECKER L.: Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres. J. Med. Genet., 1999, 36, 405-411.
19. SPELEMAN F., CALLENS B., LOGGHE K., VAN ROY N., HORSLEY S.W., JAUCH A., VERSCHRAEGEN-SPAE M.R., LEROY J.G.: Subtelomeric familial translocation t(2;7)(q37;q35) leading to partial trisomy 7q35→qter: molecular cytogenetic analysis and clinical phenotype in two generations. Am. J. Med. Genet., 2000, 93, 349-354.
20. SYRROU M., KEYMOLEN K., DEVRIENDT K., HOLVOET M., THOELEN R., VERHOFSTADT K., FRYNS J.P.: Glypican 1 gene: good candidate for brachydactyly type E. Am. J. Med. Genet., 2002, 108, 310-314.
21. WILSON L.C., LEVERTON K., OUDE LUTTIKHUIS M.E., OLEY C.A., FLINT J., WOLSTENHOLME J., DUCKETT D.P., BARROW M.A., LEONARD J.V., READ A.P.: Brachydactyly and mental retardation: an Albright hereditary osteodystrophy-like syndrome localized to 2q37. Am. J. Hum. Genet., 1995, 56, 400-407.
22. WLSON G.N., HELLER K.B., ELTERMAN R.D., SCHNEIDER N.R.: Partial trisomy 18 with minimal anomalies: lack of correspondence between phenotypic manifestations and triplicated loci along chromosome 18. Am. J. Med. Genet., 1990, 36, 506-510.