Subtelomeric 6p deletion: Clinical and array-CGH characterization in two patients

American Journal of Medical Genetics, Part A

Volumn 146, Issue 16, 2008, Pages 2094-2102

  Martinet, Danielle ^a   Filges, Isabel ^b   Schmutz, Nathalie Besuchet ^a   Morris, Michael A ^b   Gaide, Anne Claude ^a   Dahoun, Sophie ^b   Bottani, Armand ^b   Addor, Marie Claude ^a   Antonarakis, Stylianos E ^b   Beckmann, Jacques S ^a   Béna, Frédérique ^b  

^a LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^b GENEVA UNIVERSITY HOSPITALS   (Switzerland)

Author keywords

Array CGH; Chromosome 6p deletion; Developmental delay; Eye abnormalities; Inv del dup(6)

Indexed keywords

ARTICLE; BODY GROWTH; CASE REPORT; CHILD; CHROMOSOME 6P; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME INVERSION; CHROMOSOME REARRANGEMENT; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISORDER; FACIES; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DELETION; GENOTYPE PHENOTYPE CORRELATION; HIP DYSPLASIA; HUMAN; HYPSARRHYTHMIA; INFANT; MALE; MENTAL DEFICIENCY; MICROARRAY ANALYSIS; PERCEPTION DEAFNESS; PRIORITY JOURNAL; TELOMERE; TONGUE; VISUAL FIELD;

ABNORMALITIES, MULTIPLE; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 6; CRANIOFACIAL ABNORMALITIES; DEVELOPMENTAL DISABILITIES; FEMALE; GENOTYPE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INVERSION, CHROMOSOME; KARYOTYPING; MALE; MENTAL RETARDATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PHENOTYPE;

EID: 49449094619     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32414     Document Type: Article

References (40)

1. Anderlid BM, Schoumans J, Hallqvist A, Stahl Y, Wallin A, Blennow E, Nordenskjold M. 2003. Cryptic subtelomeric 6p deletion in a girl with congenital malformations and severe language impairment. Eur J Hum Genet 11:89-92.
2. Bonaglia MC, Giorda R, Poggi G, Raggi ME, Rossi E, Baroncini A, Giglio S, Borgatti R, Zuffardi O. 2000. Inverted duplications are recurrent rearrangements always associated with a distal deletion: Description of a new case involving 2q. Eur J Hum Genet 8:597-603.
3. Breuning MH, Bijlsma JB, de France HF. 1977. Partial trisomy 6p due to familial translocation t(6;20)(p21;p13). A new syndrome? Hum Genet 38:7-13.
4. Chen C, Chern S, Lin S, Lin C, Li Y, Wang T, Lee C, Pan C, Hsieh L, Wang W. 2005. A paternally derived inverted duplication of distal 14q with a terminal 14q deletion. Am J Med Genet Part A 139A:146-150.
5. Côté GB, Papadakou-Lagoyanni S, Sbyrakis S. 1978. Partial trisomy 6p with karyotype 46,XY,der(22), t(6;22)(p22; q13)mat. J Med Genet 15:479-481.
6. Cotter PD, Kaffe S, Li L, Gershin IF, Hirschhorn K. 2001. Loss of subtelomeric sequence associated with a terminal inversion duplication of the short arm of chromosome 4. Am J Med Genet 102:76-80.
7. Davies AF, Mirza G, Sekhon G, Turnpenny P, Leroy F, Speleman F, Law C, van Regemorter N, Vamos E, Flinter F, Ragoussis J. 1999. Delineation of two distinct 6p deletion syndromes. Hum Genet 104:64-72.
8. De Brasi D, Rossi E, Giglio S, D'gostino A, Titomanlio L, Farina V, Andria G, Sebastio G. 2001. Inv dup del(1)(pter → q44::q44 → q42:) with the classical phenotype of trisomy 1q42-qter. Am J Med Genet 104:127-130.
9. DeScipio C, Schneider L, Young TL, Wasserman N, Yaeger D, Lu F, Wheeler PG, Williams MS, Bason L, Jukofsky L, Menon A, Geschwindt R, Chudley AE, Saraiva J, Schinzel A, Guichet A, Dobyns WE, Toutain A, Spinner NB, Krantz ID. 2005. Subtelomeric deletions of chromosome 6p: Molecular and cytogenetic characterization of three new cases with phenotypic overlap with Ritscher-Schinzel (3C) syndrome. Am J Med Genet Part A 134A:3-H.
10. De Vries BB, Winter R, Schinzel A, van Ravenswaaij-Arts C. 2003. Telomeres: A diagnosis at the end of the chromosomes. J Med Genet 40:385-398.
11. Fisher AM, Thomas NS, Cockwell A, Stecko O, Kerr B, Temple IK, Clayton P. 2002. Duplication of chromosome 11p15 of maternal origin result in a phenotype that includes growth retardation. Hum Genet 111:290-296.
12. Florida G, Piantanida M, Minelli A, Dellavecchia C, Bonaglia C, Rossi E, Gimelli G, Croci G, Franchi F, Gilgenkrantz S, Grammatico P, Dalprá L, Wood S, Danesino C, Zuffardi O. 1996. The same molecular mechanism at the maternal meiosis I produces mono- and dicentric 8p duplications. Am J Hum Genet 58:785-796.
13. Fryns JP, Petit P, Jaeken J, Eggermont E, Kleczkowska A, van den Berghe H. 1983. Partial distal 6p trisomy: A clinical entity. Ann Genet 26:50-52.
14. Giglio S, Broman KW, Matsumoto N, Calvari V, Gimelli G, Neumann T, Ohashi H, Voullaire L, Larizza D, Giorda R, Weber JL, Ledbetter DH, Zuffardi O. 2001. Olfactory receptor-gene cluster, genomic-inversion polymorphisms, and common chromosome rearrangements. Am J Hum Genet 68:874-883.
15. Hoo JJ, Chao M, Szego K, Rauer M, Echiverri SC, Harris C. 1995. Four new cases of inverted terminal duplication: A modified hypothesis of mechanism of origin. Am J Med Genet 58:299-304.
16. Jenderny J, Poetsch M, Hoeltzenbein M, Friedrich U, Jauch A. 1998. Detection of a concomitant distal deletion in an inverted duplication of chromosome 3. Is there an overall mechanism for the origin of such duplications/deficiencies? Eur J Hum Genet 6:439-444.
17. Kennedy D, Silver MM, Winsor EJT, Toi A, Provias J, Macha M, Precht K, Ledbetter DH, Chitayat D. 2000. Inverted duplication of the distal short arm of chromosome 3 associated with lobar holoprosencephaly and lumbosacral meningomyelocele. Am J Med Genet 91:167-170.
18. Kondoh Y, Toma T, Ohashi H, Harada N, Yoshiura K, Ohta T, Kishino T, Niikawa N, Matsumoto N. 2003. Inv dup del(4)(:p14 → p16.3::p16.3 → qter) with manifestations of partial duplication 4p and Wolf-Hirschhorn syndrome. Am J Med Genet Part A 120A:123-126.
19. Kume T, Deng KY, Winfrey V, Gould DB, Walter MA, Hogan BL. 1998. The forkhead/winged helix gene MfI is disrupted in the pleiotropic mouse mutation congential hydrocephalus. Cell J 93:985-996.
20. Le Caignec C, De Mas P, Vincent MC, Bocéno M, Bourrouillou G, Rival JM, David A. 2005. Subtelomeric 6p deletion: Clinical, FISH, and array CGH characterization of two cases. Am J Med Genet Part A 132A:175-180.
21. Lin RJ, Cherry AM, Chen KC, Lyons M, Hoyme HE, Hudgins L. 2005. Terminal deletion of 6p results in a recognizable phenotype. Am J Med Genet Part A 136A:162-168.
22. Lines MA, Kozlowski K, Walter MA. 2002. Molecular genetics of Axenfeld-Rieger malformations. Hum Mol Genet 11:1177-1184.
23. Maclean K, Smith J, St. Heaps L, Chia N, Williams R, Peters GB, Onikul E, McCrossin T, Lehmann OJ, Adès LC. 2005. Axenfeld-Rieger malformation and distinctive facial features: Clues to a recognizable 6p25 microdeletion syndrome. Am J Med Genet Part A 132A:381-385.
24. Martinez-Glez V, Lorda-Sanchez I, Ramirez JM, Ruiz-Barnes P, Rodriguez de Alba M, Diego-Alvarez D, Ramos C, Searby CC, Nishimura DY, Ayuso C. 2007. Clinical presentation of a variant of Axenfeld-Rieger syndrome associated with subtelomeric 6p deletion. Eur J Med Genet 50:120-127.
25. Means AJ, Jordan T, Mirzayans F, Dubois S, Kume T, Parlee M, Ritch R, Koop B, Kuo WL, Collins C, Marshall J, Gould DB, Pearce W, Carlsson P, Enerbäck S, Morissette J, Bhattacharya S, Hogan B, Raymond V, Walter MA. 1998. Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly. Am J Hum Genet 63:1316-1328.
26. Mewar R, Harrison W, Weaver DD, Palmer C, Davee MA, Overhauser J. 1994. Molecular cytogenetic determination of a deletion/duplication of 1q that results in a trisomy 18 syndrome-like phenotype. Am J Med Genet 52:178-183.
27. Milunsky J, Huang X-L, Wyandt HE, Milunsky A. 1999. Schizophrenia susceptibility gene locus at Xp22.3. Clin Genet 55:455-460.
28. Mirza G, Williams RR, Mohammed S, Clark R, Newbury-Ecob R, Baldinger S, Flinter F, Ragoussis J. 2004. Refined genotype-phenotype correlations in cases of chromosome 6p deletion syndromes. Eur J Hum Genet 12:718-728.
29. Mitchell JJ, Vekemans M, Luscombe S, Hayden M, Weber B, Richter A, Sparkes R, Kojis T, Watters G, Der Kaloustian VM. 1994. U-type exchange in a paracentric inversion as a possible mechanism of origin of an inverted tandem duplication of chromosome 8. Am J Med Genet 49:384-387.
30. Pangalos C, Theophile D, Sinet P-M, Marks A, Stamboulieh-Abazis D, Chettouh Z, Prieur M, Verellen C, Rethoré M-O, Lejeune J, Delabar J-M. 1992. No significant effect of monosomy for distal 21q22.3 on the Down syndrome phenotype in 'mirror' duplications of chromosome 21. Am J Hum Genet 51:1240-1250.
31. Pinkel D, Landegent J, Collins C, Fuscoe J, Segraves R, Lucas J, Gray J. 1988. Fluorescence in situ hybridization with human chromosome-specific libraries: Detection of trisomy 21 and translocations of chromosome 4. Proc Natl Acad Sci USA 85:9138-9142.
32. Rosenberg C, Knijnenburg J, Bakker E, Vianna-Morgante AM, Sloos W, Otto PA, Kriek M, Hansson K, Krepischi-Santos AC, Fiegler H, Carter NP, Bijlsma EK, van Haeringen A, Szuhai K, Tanke HJ. 2006. Array-CGH detection of micro rearrangements in mentally retarded individuals; Clinical significance of imbalances present both in affected children and normal parents. J Med Genet 43:180-186.
33. Shaw-Smith C, Redon R, Rickman L, Rio M, Willatt L, Fiegler H, Firth H, Sanlaville D, Winter R, Colleaux L, Bobrow M, Carter NP. 2004. Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/ mental retardation and dysmorphic features. J Med Genet 41:241-248.
34. Sreekantaiah C, Kronn D, Marinescu RC, Goldin B, Overhauser J. 1999. Characterization of a complex chromosomal rearrangement in a patient with a typical catlike cry and no other clinical findings of cri-du-chat syndrome. Am J Med Genet 86:264-268.
35. Stetten G, Charity LL, Kasch LM, Scott AF, Berman CL, Pressman E, Blakemore KJ. 1997. A paternally derived inverted duplication of 7q with evidence of a telomeric deletion. Am J Med Genet 68:76-81.
36. Strungaru H, Dinu I, Walter M. 2007. Genotype-phenotype correlations in Axenfeld-Rieger malformation and Glaucoma patients with FOXC1 and PITX2 mutations. Invest Ophthalmol Vis Sci 48:228-237.
37. Teebi AS, Gibson L, McGrath J, Meyn MS, Breg WR, Yang-Feng TL. 1993. Molecular and cytogenetic characterization of 9p-abnormalities. Am J Med Genet 46:288-292.
38. Tepperberg JH, Rao KW, Albright SG, Kaiser-Rogers K, Powell CM. 1994. Deletion 6(p25.1) in a child with mild dysmorphic features and absence of major eye malformations: Implications for the localization of genes involved in ocular development. Am J Hum Genet 55:A680.
39. Van Buggenhout G, Maas NMC, Fryns J-P, Vermeesch JR. 2004. A dysmorphic boy with 4qter deletion and 4q32.3-34.3 duplication: Clinical, cytogenetic, and molecular findings. Am J Med Genet Part A 131A:186-189.
40. Weleber RG, Verma RS, Kimberling WJ, Fieger HG Jr, Lubs HA. 1976. Duplication-deficiency of the short arm of chromosome 8 following artificial insemination. Ann Genet 19:241-247.