Recurrent 70.8 Mb 4q22.2q32.3 duplication due to ovarian germinal mosaicism

European Journal of Human Genetics

Volumn 18, Issue 8, 2010, Pages 882-888

  Tosca, Lucie ^a,b,c   Brisset, Sophie ^a,b,d   Petit, François M ^a,b   Lecerf, Laure ^e,f   Rousseau, Ghislaine ^a,d   Bas, Cécile ^b,c   Laroudie, Mireille ^a   Maurin, Marie Laure ^a   Tapia, Sylvie ^g   Picone, Olivier ^a   Prevot, Sophie ^a   Goossens, Michel ^e,f   Labrune, Philippe ^a,b,d   Tachdjian, Gérard ^a,b,c  

^a HÔPITAL ANTOINE BÉCLÈRE   (France)

^b UNIVERSITÉ PARIS SACLAY   (France)

^c Centre National de la Recherche Scientifique   (France)

^d INSERM   (France)

^e UNIVERSITÉ PARIS EST CRÉTEIL   (France)

^f HENRI MONDOR HOSPITAL   (France)

^g LABORATOIRE CERBA   (France)

Author keywords

chromosome 4; comparative genomic hybridization microarray; duplication; microsatellites; ovarian mosaicism; recurrence

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 4; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME DUPLICATION; CHROMOSOME REARRANGEMENT; CHROMOSOME STRUCTURE; COMPARATIVE GENOMIC HYBRIDIZATION; CYTOGENETICS; DNA MICROARRAY; FEMALE; FETUS; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DUPLICATION; GENETIC COUNSELING; GROWTH RETARDATION; HEART DISEASE; HUMAN; HUMAN TISSUE; IN SITU HYBRIDIZATION; LUNG MALFORMATION; MALE; MEIOSIS; MITOSIS; MOLECULAR GENETICS; MOSAICISM; NERVOUS SYSTEM DEVELOPMENT; NUCHAL TRANSLUCENCY MEASUREMENT; NUCLEOTIDE SEQUENCE; OVARY; PRESCHOOL CHILD; PRIORITY JOURNAL; TRISOMY; GENE REARRANGEMENT; GENETICS; KARYOTYPING; OOCYTE; SIBLING;

CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 4; CYTOGENETIC ANALYSIS; FEMALE; GENE DUPLICATION; GENE REARRANGEMENT; GENETIC COUNSELING; HUMANS; KARYOTYPING; MICROSATELLITE REPEATS; MOSAICISM; OVUM; SIBLINGS;

MICROSATELLITE DNA;

EID: 77954955040     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.46     Document Type: Article

References (41)

1. Zlotogora J: Germ line mosaicism. Hum Genet 1998; 102: 381-386.
2. Delhanty JD: Mechanisms of aneuploidy induction in human oogenesis and early embryogenesis. Cytogenet Genome Res 2005; 111: 237-244.
3. Uehara S, Yaegashi N, Maeda T et al: Risk of recurrence of fetal chromosomal aberrations: analysis of trisomy 21, trisomy 18, trisomy 13, and 45,X in 1076 Japanese mothers. J Obstet Gynaecol Res 1999; 25: 373-379.
4. Bruyere H, Rupps R, Kuchinka BD, Friedman JM, Robinson WP: Recurrent trisomy 21 in a couple with a child presenting trisomy 21 mosaicism and maternal uniparental disomy for chromosome 21 in the euploid cell line. Am J Med Genet 2000; 94: 35-41.
5. Sachs ES, Jahoda MG, Los FJ, Pijpers L, Wladimiroff JW: Trisomy 21 mosaicism in gonads with unexpectedly high recurrence risks. Am J Med Genet Suppl 1990; 7: 186-188.
6. Mehes K, Kosztolanyi G: A possible mosaic form of delayed centromere separation and aneuploidy. Hum Genet 1992; 88: 477-478.
7. Conn CM, Cozzi J, Harper JC, Winston RM, Delhanty JD: Preimplantation genetic diagnosis for couples at high risk of Down syndrome pregnancy owing to parental translocation or mosaicism. J Med Genet 1999; 36: 45-50.
8. Beaulieu Bergeron M, Tran-Thanh D, Fournet JC, Lemyre E, Lemieux N, Bouron-Dal Soglio D: Male pseudohermaphroditism and gonadal mosaicism in a 47,XY,+22 fetus. Am J Med Genet A 2006; 140: 1768-1772.
9. Engel U, Bohlander SK, Bink K, Hinney B, Laccone F, Bartels I: Pseudo dicentric chromosome (5;21): a rare example of maternal germline mosaicism. Hum Reprod 2001; 16: 63-66.
10. Rump P, Dijkhuizen T, Sikkema-Raddatz B et al: Drayer's syndrome of mental retardation, microcephaly, short stature and absent phalanges is caused by a recurrent deletion of chromosome 15(q26.2-4qter). Clin Genet 2008; 74: 455-462.
11. Prabhakara K, Wyandt HE, Huang XL, Prasad KS, Ramadevi AR: Recurrent proximal 18p monosomy and 18q trisomy in a family with a maternal pericentric inversion of chromosome 18. Ann Genet 2004; 47: 297-303.
12. Masada CT, Olney AH, Fordyce R, Sanger WG: Partial deletion of 14q and partial duplication of 14q in sibs: testicular mosaicism for t(14q;14q) as a common mechanism. Am J Med Genet 1989; 34: 528-534.
13. Hajianpour A, Murer-Orlando M, Docherty Z: Germ line mosaicism for chromosome 5 Cri-du-chat deletion? Am J Hum Genet 1991; 49: 217.
14. Gardner RJ, Dockery HE, Fitzgerald PH et al: Mosaicism with a normal cell line and an autosomal structural rearrangement. J Med Genet 1994; 31: 108-114.
15. Chilcote RR, Le Beau MM, Dampier C et al: Association of red cell spherocytosis with deletion of the short arm of chromosome 8. Blood 1987; 69: 156-159.
16. Grossfeld PD, Mattina T, Lai Z et al: The 11q terminal deletion disorder: a prospective study of 110 cases. Am J Med Genet Part A 2004; 129A: 51-61.
17. Brandriff B, Gordon LA, Crawford BB et al: Sperm chromosome analysis to assess potential germ cell mosaicism. Clin Genet 1988; 34: 85-89.
18. Hoo JJ, Lowry RB, Lin CC, Haslam RH: Recurrent de novo interstitial deletion of 16q in two mentally retarded sisters. Clin Genet 1985; 27: 420-425.
19. Tabolacci E, Zollino M, Lecce R et al: Two brothers with 22q13.3 deletion syndrome and features suggestive of the Clark-Baraitser syndrome phenotype. Clin Dysmorphol 2005; 14: 127-132.
20. Röthlisberger B, Kotzot D: Recurrence risk in de novo structural chromosomal rearrangements. Am J Med Genet A 2007; 143A: 1708-1714.
21. Morton NE, Lindsten J, Iselius L, Yee S: Data and theory for a revised chiasma map of man. Hum Genet 1982; 62: 266-270.
22. Vogel W, Siebers JW, Gunkel J: [Phenotypic variation in partial trisomy 4q (author's transl)]. Humangenetik 1975; 28: 103-112.
23. Dutrillaux B, Laurent C, Forabosco A et al: Partial 4q trisomy. Apropos of 3 cases. Ann Genet 1975; 18: 21-27.
24. Taylor KM, Francke U, Brown MG, George DL, Kaufhold M: Inverted tandem ('mirror') duplications in human chromosomes:-nv dup 8p, 4q, 22q. Am J Med Genet 1977; 1: 3-19.
25. Fryns JP, van den Berghe H: Partial duplication of the long arm of chromosome 4. Ann Genet 1980; 23: 52-53.
26. Halal F, Vekemans M, Chitayat D: Interstitial tandem direct duplication of the long arm of chromosome 4 (q23-q27) and possible assignment of the structural gene encoding human aspartylglucosaminidase to this segment. Am J Med Genet 1991; 39: 418-421.
27. Jeziorowska A, Ciesla W, Houck Jr GE et al: Cytogenetic and molecular identification of a de novo direct duplication of the long arm of chromosome 4(q21.3-4q31.3). Am J Med Genet 1993; 46: 83-87.
28. Navarro EG, Romero MC, Exposito IL et al: De novo interstitial tandem duplication of chromosome 4(q21-q28). Am J Med Genet 1996; 62: 297-299.
29. Goodman BK, Capone GT, Hennessey J, Thomas GH: Familial tandem duplication of bands q31.1 to q32.3 on chromosome 4 with mild phenotypic effect. Am J Med Genet 1997; 73: 119-124.
30. Muraki K, Katano R, Hiraki Y, Ueda K, Fujita H: A case of an interstitial tandem direct duplication of long arm of chromosome 4: 46, XY, dup (4) (q25q31.3) de novo. Hiroshima J Med Sci 1997; 46: 105-108.
31. Maltby EL, Barnes IC, Bennett CP: Duplication involving band 4q32 with minimal clinical effect. Am J Med Genet 1999; 83: 431.
32. Elghezal H, Sendi HS, Monastiri K et al: Large duplication 4q25-q34 with mild clinical effect. Ann Genet 2004; 47: 419-422.
33. Lin S, Kirk EP, McKenzie F, Francis C, Shalhoub C, Turner AM: De novo interstitial duplication 4(q28.1q35) associated with choanal atresia. J Paediatr Child Health 2004; 40: 401-403.
34. Hubert E, Sawicka A, Wasilewska E, Midro AT: Partial trisomy of long arm of chromosome 4 as a result of dir dup (4)(q27q31.3) de novo. Genet Couns 2006; 17: 211-218.
35. Otsuka T, Fujinaka H, Imamura M, Tanaka Y, Hayakawa H, Tomizawa S: Duplication of chromosome 4q: renal pathology of two siblings. Am J Med Genet A 2005; 134: 330-333.
36. Cernakova I, Kvasnicova M, Lovasova Z et al: A duplication dup(4)(q28q35.2) de novo in a newborn. Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 2006; 150: 113-116
37. ECARUCA: Database ID3940 (http://agserver01.azn.nl:8080/ecaruca/ecaruca. jsp)
38. DECIPHER: Database ID251350 (https://decipher.sanger.ac.uk/application/).
39. Ribes V, Stutzmann F, Bianchetti L, Guillemot F, Dolle P, Le Roux I: Combinatorial signalling controls Neurogenin2 expression at the onset of spinal neurogenesis. Dev Biol 2008; 321: 470-481.
40. Wong RL, Chow KL: Depletion of Mab21l1 and Mab21l2 messages in mouse embryo arrests axial turning, and impairs notochord and neural tube differentiation. Teratology 2002; 65: 70-77.
41. Narisawa-Saito M, Iwakura Y, Kawamura M et al: Brain-derived neurotrophic factor regulates surface expression of alpha-amino-3-hydroxy-5-methyl-4- isoxazoleproprionic acid receptors by enhancing the N-ethylmaleimide-sensitive factor/GluR2 interaction in developing neocortical neurons. J Biol Chem 2002; 277: 40901-40910.