Three cases with de novo 6q imbalance and variable prenatal phenotype

American Journal of Medical Genetics

Volumn 136 A, Issue 3, 2005, Pages 254-258

  Grati, Francesca R ^a   Lalatta, Faustina ^b   Turolla, Licia ^c   Cavallari, Ugo ^a   Gentilin, Barbara ^a   Rossella, Franca ^a   Cetin, Irene ^a,d   Antonazzo, Patrizio ^a,d   Bellotti, Maria ^d   Dulcetti, Francesca ^e   Baldo, Demetrio ^c   Tenconi, Romano ^f   Simoni, Giuseppe ^a   Miozzo, Monica ^a  

^a UNIVERSITY OF MILAN   (Italy)

^b Laboratorio di Informatica Medica   (Italy)

^c ULSS 9   (Italy)

^d Ospedale San Paolo   (Italy)

^e Laboratorio TOMA   (Italy)

^f UNIVERSITY OF PADOVA   (Italy)

Author keywords

Arthrogryposis; Chromosome 6 imbalances; Fetal akinesia deformation sequence (FADS); Genetic counseling; Parental origin

Indexed keywords

DNA;

ARTHROGRYPOSIS; ARTICLE; CARDIOVASCULAR MALFORMATION; CASE REPORT; CHROMOSOME 6Q; CHROMOSOME DELETION; CYTOGENETICS; DUCTUS VENOSUS; FETAL AKINESIA DEFORMATION SEQUENCE; FETUS; HUMAN; INTRAUTERINE GROWTH RETARDATION; KARYOTYPE; PHENOTYPE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SHORT TANDEM REPEAT;

CHROMOSOME ABERRATIONS; CHROMOSOME BANDING; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 6; FATAL OUTCOME; FEMALE; FETAL DEATH; FETUS; HUMANS; KARYOTYPING; MALE; MICROSATELLITE REPEATS; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 22044458310     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30837     Document Type: Article

References (28)

1. Bailey JA, Gu Z, Clark RA, Reinert K, Samonte RV, Schwartz S, Adams MD, Myers EW, Li PW, Eichler EE. 2002. Recent segmental duplications in the human genome. Science 297:1003-1007.
2. Cappon SL, Duncan AM, Khalifa MM. 2000. Interstitial 6q duplication in an adult male without growth delay or severe mental retardation. Med Sci Monit 6:581-585.
3. Causio F, Fischetto R, Carnevale F, Pansini A, Rocchi M. 2001. Trisomy 6q syndrome: A case with a «de novo» 6q23 tandem duplication. Genet Couns 12:145-150.
4. Faivre L, Cormier-Daire V, Lapierre JM, Colleaux L, Jacquemont S, Genevieve D, Saunier P, Munnich A, Turleau C, Romana S, Prieur M, De Blois MC, Vekemans M. 2002. Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype. J Med Genet 39:594-596.
5. Giardino D, Finelli P, Gottardi G, De Canal G, Della Monica M, Lonardo F, Scarano G, Larizza L. 2003. Narrowing the candidate region of Albright hereditary osteodystrophy-like syndrome by deletion mapping in a patient with an unbalanced cryptic translocation t(2;6)(q37.3;q26). Am J Med Genet A 122(3):261-265.
6. Gilhuis HJ, van Ravenswaaij CM, Hamel BJ, Gabreels FJ. 2000. Interstitial 6q deletion with a Prader-Willi-like phenotype: A new case and review of the literature. Eur J Paediatr Neurol 4:39-43.
7. Goh DL, Tan AS, Chen JY, Van Den Berghe JA. 2000. Dysmorphic sibs trisomic for the region 6q22.1->6q23.3. J Med Genet 37:889-892.
8. Grati FR, Sirchia SM, Garagiola I, Sironi E, Galioto S, Rossella F, Serafini P, Dulcetti F, Bozzetti A, Brusati R, Simoni G. 2000. Losses of heterozygosity in oral and oropharyngeal epithelial carcinomas. Cancer Genet Cytogenet 118:57-61.
9. Hall JG. 1986. Analysis of Pena Shokeir phenotype. Am J Med Genet 25:99-117.
10. Henegariu O, Heerema NA, Vance GH. 1997. Mild "duplication 6q syndrome": A case with partial trisomy (6)(q23.3q25.3). Am J Med Genet 68:450-454.
11. Hopkin RJ, Schorry E, Bofinger M, Milatovich A, Stern HJ, Jayne C, Saal HM. 1997. New insights into the phenotypes of 6q deletions. Am J Med Genet 70:377-386.
12. Ji Y, Eichler EE, Schwartz S, Nicholls RD. 2000. Structure of chromosomal duplicons and their role in mediating human genomic disorders. Genome Res 10(5):597-610.
13. Kara-Mostefa A, Raoul O, Lyonnet S, Amiel J, Munnich A, Vekemans M, Magnier S, Ossareh B, Bonnefont JP. 1999. Recurrent Williams-Beuren syndrome in a sibship suggestive of maternal germ-line mosaicism. Am J Hum Genet 64:1475-1478.
14. Kline AD, Griffin CA, Haddadin MH, Chudoba I, Morsberger LA, Hawkins AL, Amato RS, Munshi G, Cohen MM. 2004. A de novo complex karyotype with two independent balanced translocations and a double inversion of chromosome 6 presenting with multiple congenital anomalies. Am J Med Genet A 129(2):124-129.
15. Kumar R, Riordan D, Dawson AJ, Chudley AE. 1997. Proximal interstitial 6q deletion: A recognizable syndrome. Am J Med Genet 71:353-356.
16. Lazaro C, Gaona A, Lynch M, Kruyer H, Ravella A, Estivill X. 1995. Molecular characterization of the breakpoints of a 12-kb deletion in the NF1 gene in a family showing germ-line mosaicism. Am J Hum Genet 57:1044-1049.
17. Pivnick EK, Qumsiyeh MB, Tharapel AT, Summitt JB, Wilroy RS. 1990. Partial duplication of the long arm of chromosome 6: A clinically recognisable syndrome. J Med Genet 27:523-526.
18. Rubtsov N, Senger G, Kuzcera H, Neumann A, Kelbova C, Junker K, Beensen V, Claussen U. 1996. Interstitial deletion of chromosome 6q: Precise definition of the breakpoints by microdissection, DNA amplification, and reverse painting. Hum Genet 97:705-709.
19. Sandrin-Garcia P, Macedo C, Martelli LR, Ramos ES, Guion-Almeida ML, Richieri-Costa A, Passos GA. 2002. Recurrent 22q11.2 deletion in a sibship suggestive of parental germline mosaicism in velocardiofacial syndrome. Clin Genet 61:380-383.
20. Schroer RJ, Culp DM, Stevenson RE, Potts WE, Taylor HA, Simensen RJ. 1980. Duplication-deletion syndrome in a family with pericentric inversion of chromosome 6. Clin Genet 18:83-87.
21. Shaw CJ, Lupski JR. 2004. Implications of human genome architecture for rearrangement-based disorders: The genomic basis of disease. Hum Mol Genet 13(1):R57-R64.
22. Stankiewicz P, Lupski JR. 2002. Genome architecture, rearrangements and genomic disorders. Trends Genet 18:74-82.
23. Stein CK, Stred SE, Thomson LL, Smith FC, Hoo JJ. 1996. Interstitial 6q deletion and Prader-Willi-like phenotype. Clin Genet 49:306-310.
24. Temple IK, Shield JP. 2002. Transient neonatal diabetes, a disorder of imprinting. J Med Genet 39(12):872-875.
25. Uhrich S, FitzSimmons J, Easterling TR, Mack L, Disteche CM. 1991. Duplication (6q) syndrome diagnosed in utero. Am J Med Genet 41:282-283.
26. Vermeesch JR, Fryns JP. 2003. Complex MCA/MR syndrome associated with interstitial deletion of the long arm of chromosome 6, del(6)(q25.1→q27). Am J Med Genet A 120(2):299-300.
27. Witters I, Moerman P, Fryns JP. 2002. Fetal akinesia deformation sequence: A study of 30 consecutive in utero diagnosis. Am J Med Genet 113:23-28.
28. Zneimer SM, Ziel B, Bachman R. 1998. Partial trisomy of chromosome 6q: An interstitial duplication of the long arm. Am J Med Genet 80:133-135.