Familial mental retardation syndrome ATR-16 due to an inherited cryptic subtelomeric translocation, t(3;16)(q29;p13.3)

American Journal of Human Genetics

Volumn 66, Issue 1, 2000, Pages 16-25

  Holinski Feder, Elke ^a   Reyniers, Edwin ^c   Uhrig, Sabine ^a   Golla, Astrid ^a   Wauters, Jan ^c   Kroisel, Peter ^d   Bossuyt, Paul ^c   Rost, Imma ^a   Jedele, Kerry ^a   Zierler, Hannelore ^d   Schwab, Sieglinde ^e   Wildenauer, Dieter ^e   Speicher, Michael R ^b   Willems, Patrick J ^c,f   Meitinger, Thomas ^a   Kooy, R Frank ^c  

^a Department of Medical Genetics ^*  (Germany)

^b UNIVERSITY OF MUNICH   (Germany)

^c UNIVERSITY OF ANTWERP   (Belgium)

^d UNIVERSITY OF GRAZ   (Austria)

^e UNIVERSITY OF BONN   (Germany)

^f ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME 16P; CHROMOSOME 3Q; CHROMOSOME ANALYSIS; CHROMOSOME DUPLICATION; CHROMOSOME TRANSLOCATION 3; CLINICAL ARTICLE; FAMILIAL DISEASE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC LINKAGE; GENOME; HUMAN; HUMAN CELL; KARYOTYPING; MALE; MENTAL RETARDATION MALFORMATION SYNDROME; PEDIGREE; PENETRANCE; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; TELOMERE;

EID: 0033909534     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302703     Document Type: Article

References (27)

1. Altherr MR, Wright TJ, Denison K, Perez-Castro AV, Johnson V (1997) Delimiting the Wolf-Hirschhorn syndrome critical region to 750 kilobase pairs. Am J Med Genet 71:47-53
2. Alvarez Arratia MC, Rivera H, Möller M, Valdivia A, Vigueras A, Cantu JM (1984) De novo del(3)(q28). Ann Genet 27: 109-111
3. Brueton LA, Barber JCK, Huson SM, Winter RM (1989) Partial monosomy 3q in a boy with short stature, developmental delay, and mild dysmorphic features. J Med Genet 26: 729-730
4. Curry CJ, Stevenson RE, Aughton D, Byrne J, Carey JC, Cassidy S, Cunniff C, et al (1997) Evaluation of mental retardation: recommendations of a consensus conference. Am J Med Genet 72:468-477
5. Dib C, Fauré S, Fizames C, Samson D, Drouot N, Vignal A, Millasseau P, et al (1996) A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380:152-154
6. Eils R, Uhrig S, Saracoglu K, Sätzler K, Bolzer A, Petersen I, Chassery J, et al (1998) An optimized, fully automated system for fast and accurate identification of chromosomal rearrangements by multiplex-FISH (M-FISH). Cytogenet Cell Genet 82:160-171
7. Flint J, Wilkie AOM, Buckle VJ, Winter RB, Holland AJ, McDermid HE (1995) The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation. Nat Genet 9:132-139
8. Garcia-Esquivel L, Rivas F, Rivera H, Möller M, Velazquez AL, Cantu JM (1987) Familial trisomy 3q25-qter: report of two cases. J Genet Hum 35:299-303
9. Giraudeau F, Aubert D, Young I, Horsley S, Knight S, Kearney L, Vergnaud G, et al (1997) Molecular-cytogenetic detection of a deletion of 1p36.3. J Med Genet 34:314-317
10. Jokiaho I, Salo A, Niemi KM, Blomstedt GC, Pihkala J (1989) Deletion 3q27-3qter in an infant with mild dysmorphism, parietal meningocele, and neonatal miliaria rubra-like lesions. Hum Genet 83:302-304
11. Kondo I, Hirano T, Hamaguchi H, Ohta Y, Haibara S, Nakai H, Takita H (1979) A case of trisomy 3q21 leads to qter syndrome. Hum Genet 46:141-147
12. Kuwano A, Ledbetter SA, Dobyns WB, Emanuel BS, Ledbetter DH (1991) Detection of deletions and cryptic translocations in Miller-Dicker syndrome by in situ hybridization. Am J Hum Genet 49:707-714
13. Lathrop GM, Lalouel JM (1984) Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet 36:460-465
14. Leonard C, Huret JL, Imbert M-C, Lebouc Y, Selva J, Boulley A-M (1992) Trisomy 16p in a liveborn offspring due to maternal translocation t(16;21)(q11;p11) and review of the literature. Am J Med Genet 43:621-625
15. Lindor NM, Valdes MG, Wick M, Thibodeau SN, Jalal S (1997) De novo 16p deletion: ATR-16 syndrome. Am J Med Genet 72:451-454
16. Montera MR, Martinez A, Fayos JL, Alvarez V (1988) A new case of partial trisomy 3(q25-qter) in a newborn. Ann Genet 31:65-68
17. Nellist M, Janssen B, Brook-Carter PT, Hesseling-Janssen ALW, Maheshwar MM, Verhoef S, van den Ouweland AMW, et al (1993) Identification and characterization of the tuberous sclerosis gene on chromosome 16. Cell 75: 1305-1315
18. Ning Y, Roschke A, Smith ACM, Macha M, Precht K, Riethman H, Ledbetter DH, et al ( 1996) A complete set of human telomeric probes and their clinical application. Nat Genet 14:86-89
19. O'Connor TA, Higgins RR (1992) Trisomy 16p in a liveborn infant and review of trisomy 16p. Am J Med Genet 42: 316-319
20. Overhauser J, Bengtsson U, McMahon J, Ulm J, Butler MG, Santiago L, Wasmuth JJ (1989) Prenatal diagnosis and carrier detection of a cryptic translocation by using DNA markers from the short arm of chromosome 5. Am J Hum Genet 45:296-303
21. Sargent C, Burn J, Baraitser M, Pembrey ME (1985) Trigonocephaly and the Opitz C syndrome. J Med Genet 22:39-45
22. Slavotinek A, Rosenberg M, Knight S, Gaunt L, Fergusson W, Killoran C, Clayton-Smith J, et al (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
23. Speicher MR, Ballard SG, Ward DC (1996) Karyotyping human chromosomes by combinatorial multi-fluor FISH. Nat Genet 12:368-375
24. Uhrig S, Schuffenhauer S, Fauth C, Wirtz A, Daumer-Haas C, Apacik C, Cohen M, et al (1999) Multiplex-FISH for pre-and postnatal diagnostic applications. Am J Hum Genet 65: 448-462
25. Weatherall DJ, Higgs DR, Bunch C, Old JM, Hunt DM, Pressley L, Clegg JB, et al (1981) Hemoglobin H disease and mental retardation: a new syndrome or a remarkable coincidence? N Engl J Med 305:607-612
26. Wilkie AOM, Buckle VJ, Harris PC, Lamb J, Barton NJ, Reeders ST, Lindenbaum RH, et al (1990a) Clinical features and molecular analysis of the α thalassemia/mental retardation syndromes. I: Cases due to deletions involving chromosome band 16p13.3. Am J Hum Genet 46:1112-1126
27. Wilkie AOM, Lamb J, Harris PC, Finney RD, Higgs DR (1990b) A truncated human chromosome 16 associated with α thalassemia is stabilized by addition of telomeric repeat (TTAGGG). Nature 346:868-871