메뉴 건너뛰기




Volumn 50, Issue 4, 2011, Pages 485-491

Mosaic deletion-duplication syndrome of chromosome 3: Prenatal molecular cytogenetic diagnosis using cultured and uncultured amniocytes and association with fetoplacental discrepancy

Author keywords

3p deletion; 3q duplication; CHL1; Deletion duplication syndrome of chromosome 3; Fetoplacental discrepancy; Mosaicism

Indexed keywords

ADULT; AMNIOCENTESIS; AMNION; AMNION CELL; ARTICLE; CELL CULTURE; CHROMOSOME 3P; CHROMOSOME 3Q; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CHROMOSOME REARRANGEMENT; CLINODACTYLY; COMPARATIVE GENOMIC HYBRIDIZATION; EMBRYO; EMBRYONAL TISSUE; FACE DYSMORPHIA; FEMALE; FETUS; FETUS BLOOD; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC COUNSELING; GESTATIONAL AGE; HAPLOINSUFFICIENCY; HUMAN; HUMAN TISSUE; KARYOTYPE 46,XX; METAPHASE; MOSAICISM; PLACENTA; PREGNANCY TERMINATION; PRENATAL DIAGNOSIS; PRIMIGRAVIDA; UMBILICAL CORD;

EID: 84855231319     PISSN: 10284559     EISSN: 18756263     Source Type: Journal    
DOI: 10.1016/j.tjog.2011.10.015     Document Type: Article
Times cited : (14)

References (45)
  • 1
    • 0013864758 scopus 로고
    • Familial de Lange syndrome with chromosome abnormalities
    • Falek A., Schmidt R., Jervis G.A. Familial de Lange syndrome with chromosome abnormalities. Pediatrics. 1966, 37:92-101.
    • (1966) Pediatrics. , vol.37 , pp. 92-101
    • Falek, A.1    Schmidt, R.2    Jervis, G.A.3
  • 2
    • 0012614871 scopus 로고
    • Aneusomies de recombinaision. Conséquence d'une inversion pericentrique d'un chromosome 3 paternel
    • Boué J., Hirschhorn K., Lucas M., Gautier M., Moszer M., Bach C. Aneusomies de recombinaision. Conséquence d'une inversion pericentrique d'un chromosome 3 paternel. Ann Pediatr. 1974, 21:567-573.
    • (1974) Ann Pediatr. , vol.21 , pp. 567-573
    • Boué, J.1    Hirschhorn, K.2    Lucas, M.3    Gautier, M.4    Moszer, M.5    Bach, C.6
  • 3
    • 0016767004 scopus 로고
    • Chromosome 3 duplication q21 leads to qter deletion p25 leads to pter syndrome in children of carriers of a pericentric inversion inv(3) (p25q21)
    • Allderdice P.W., Browne N., Murphy D.P. Chromosome 3 duplication q21 leads to qter deletion p25 leads to pter syndrome in children of carriers of a pericentric inversion inv(3) (p25q21). Am J Hum Genet. 1975, 27:699-718.
    • (1975) Am J Hum Genet. , vol.27 , pp. 699-718
    • Allderdice, P.W.1    Browne, N.2    Murphy, D.P.3
  • 5
    • 0018411241 scopus 로고
    • A case of chromosome 3 duplication q deletion p syndrome born to the mother with a pericentric inversion, inv(3)(p25q21)
    • Kawashima H., Maruyama S. A case of chromosome 3 duplication q deletion p syndrome born to the mother with a pericentric inversion, inv(3)(p25q21). Jinrui Idengaku Zasshi. 1979, 24:9-12.
    • (1979) Jinrui Idengaku Zasshi. , vol.24 , pp. 9-12
    • Kawashima, H.1    Maruyama, S.2
  • 6
    • 0018568354 scopus 로고
    • Trisomy 3q: two clinically similar but cytogenetically different cases
    • Mulcahy M.T., Pemberton P.J., Sprague P. Trisomy 3q: two clinically similar but cytogenetically different cases. Ann Génét 1979, 22:217-220.
    • (1979) Ann Génét , vol.22 , pp. 217-220
    • Mulcahy, M.T.1    Pemberton, P.J.2    Sprague, P.3
  • 7
    • 0019835616 scopus 로고
    • A large kindred with an inv(3)(p25q23): clinical, cytogenetic and genetic marker studies
    • Sutherland G.R., Mulley J.C., Goldblatt E. A large kindred with an inv(3)(p25q23): clinical, cytogenetic and genetic marker studies. Ann Génét. 1981, 24:202-205.
    • (1981) Ann Génét. , vol.24 , pp. 202-205
    • Sutherland, G.R.1    Mulley, J.C.2    Goldblatt, E.3
  • 8
    • 0022527441 scopus 로고
    • Diagnosis of chromosome 3 duplication q23→qter, deletion p25→pter in a patient with the C (trigonocephaly) syndrome
    • Preus M., Vekemans M., Kaplan P. Diagnosis of chromosome 3 duplication q23→qter, deletion p25→pter in a patient with the C (trigonocephaly) syndrome. Am J Med Genet. 1986, 23:935-943.
    • (1986) Am J Med Genet. , vol.23 , pp. 935-943
    • Preus, M.1    Vekemans, M.2    Kaplan, P.3
  • 9
    • 0024201327 scopus 로고
    • Similarity between the syndrome of partial trisomy of the long arm of chromosome 3 and the Cornelia de Lange syndrome
    • [Czech]
    • Polívková Z., Kucerová M., Dolanská M., Hresová M., Kofer J. Similarity between the syndrome of partial trisomy of the long arm of chromosome 3 and the Cornelia de Lange syndrome. Cesk Pediatr. 1988, 43:723-726. [Czech].
    • (1988) Cesk Pediatr. , vol.43 , pp. 723-726
    • Polívková, Z.1    Kucerová, M.2    Dolanská, M.3    Hresová, M.4    Kofer, J.5
  • 11
    • 0018366974 scopus 로고
    • Duplication of a segment of chromosome 3 in a subject with multiple congenital anomalies and a 47, XYY father, inversion of chromosomes 3 and 9 in the mother, and inversion of chromosome 9 in a brother
    • Pope I.S., Thuline H.C., Aronson M.M., Bozarth B., Greene A.E., Coriell L.L. Duplication of a segment of chromosome 3 in a subject with multiple congenital anomalies and a 47, XYY father, inversion of chromosomes 3 and 9 in the mother, and inversion of chromosome 9 in a brother. Cytogenet Cell Genet. 1979, 24:127-128.
    • (1979) Cytogenet Cell Genet. , vol.24 , pp. 127-128
    • Pope, I.S.1    Thuline, H.C.2    Aronson, M.M.3    Bozarth, B.4    Greene, A.E.5    Coriell, L.L.6
  • 13
    • 45249110458 scopus 로고    scopus 로고
    • Prenatal detection of deletion-duplication of chromosome 3 arising from meiotic recombination of a familial pericentric inversion
    • Prabhakara K., Bruno D.L., Padman P., Prasad S., Sudheer Kumar R., et al. Prenatal detection of deletion-duplication of chromosome 3 arising from meiotic recombination of a familial pericentric inversion. Prenat Diagn. 2008, 28:466-468.
    • (2008) Prenat Diagn. , vol.28 , pp. 466-468
    • Prabhakara, K.1    Bruno, D.L.2    Padman, P.3    Prasad, S.4    Sudheer Kumar, R.5
  • 16
    • 82455192381 scopus 로고    scopus 로고
    • Prenatal diagnosis of mosaic trisomy 2: discrepancy between molecular cytogenetic analyses of uncultured amniocytes and karyotyping of cultured amniocytes in a pregnancy with severe fetal intrauterine growth restriction
    • Chen C.-P., Su Y.-N., Lin S.-Y., Chern S.-R., Chen Y.-T., Lee M.-S., et al. Prenatal diagnosis of mosaic trisomy 2: discrepancy between molecular cytogenetic analyses of uncultured amniocytes and karyotyping of cultured amniocytes in a pregnancy with severe fetal intrauterine growth restriction. Taiwan J Obstet Gynecol 2011, 50:390-393.
    • (2011) Taiwan J Obstet Gynecol , vol.50 , pp. 390-393
    • Chen, C.-P.1    Su, Y.-N.2    Lin, S.-Y.3    Chern, S.-R.4    Chen, Y.-T.5    Lee, M.-S.6
  • 17
    • 0017920335 scopus 로고
    • A patient with a partial deletion of the short arm of chromosome 3
    • Verjaal M., De Nef M.B. A patient with a partial deletion of the short arm of chromosome 3. Am J Dis Child. 1978, 132:43-45.
    • (1978) Am J Dis Child. , vol.132 , pp. 43-45
    • Verjaal, M.1    De Nef, M.B.2
  • 18
    • 0025166530 scopus 로고
    • Loss of the 3p25.3 band is critical in the manifestation of del(3p) syndrome: karyotype-phenotype correlation in cases with deficiency of the distal portion of the short arm of chromosome 3
    • Narahara K., Kikkawa K., Murakami M., Hiramoto K., Namba H., Tsuji K., et al. Loss of the 3p25.3 band is critical in the manifestation of del(3p) syndrome: karyotype-phenotype correlation in cases with deficiency of the distal portion of the short arm of chromosome 3. Am J Med Genet. 1990, 35:269-273.
    • (1990) Am J Med Genet. , vol.35 , pp. 269-273
    • Narahara, K.1    Kikkawa, K.2    Murakami, M.3    Hiramoto, K.4    Namba, H.5    Tsuji, K.6
  • 19
    • 0034736376 scopus 로고    scopus 로고
    • A terminal deletion of the short arm of chromosome 3: karyotype 46, XY, del(3)(p25-pter); a case report and literature review
    • Kariya S., Aoji K., Akagi H., Fukushima K., Chikumoto E., Ogawa T., et al. A terminal deletion of the short arm of chromosome 3: karyotype 46, XY, del(3)(p25-pter); a case report and literature review. Int J Pediatr Otorhinolaryngol. 2000, 56:71-78.
    • (2000) Int J Pediatr Otorhinolaryngol. , vol.56 , pp. 71-78
    • Kariya, S.1    Aoji, K.2    Akagi, H.3    Fukushima, K.4    Chikumoto, E.5    Ogawa, T.6
  • 20
    • 0037156322 scopus 로고    scopus 로고
    • Molecular cytogenetic characterization of a subtle interstitial del(3)(p25.3p26.2) in a patient with deletion 3p syndrome
    • Cargile C.B., Goh D.L.-M., Goodman B.K., Chen X.-N., Korenberg J.R., Semenza G.L., et al. Molecular cytogenetic characterization of a subtle interstitial del(3)(p25.3p26.2) in a patient with deletion 3p syndrome. Am J Med Genet. 2002, 109:133-138.
    • (2002) Am J Med Genet. , vol.109 , pp. 133-138
    • Cargile, C.B.1    Goh, D.L.-M.2    Goodman, B.K.3    Chen, X.-N.4    Korenberg, J.R.5    Semenza, G.L.6
  • 22
    • 2442641704 scopus 로고    scopus 로고
    • Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome
    • Fernandez T., Morgan T., Davis N., Klin A., Morris A., Farhi A., et al. Disruption of contactin 4 (CNTN4) results in developmental delay and other features of 3p deletion syndrome. Am J Hum Genet. 2004, 74:1286-1293.
    • (2004) Am J Hum Genet. , vol.74 , pp. 1286-1293
    • Fernandez, T.1    Morgan, T.2    Davis, N.3    Klin, A.4    Morris, A.5    Farhi, A.6
  • 23
    • 33750601802 scopus 로고    scopus 로고
    • FISH and array-CGH analysis of a complex chromosome 3 aberration suggests that loss of CNTN4 and CRBN contributes to mental retardation in 3pter deletions
    • Dijkhuizen T., van Essen T., van der Vlies P., Verheij J.B.G.M., Sikkema-Raddatz B., van der Veen A.Y., et al. FISH and array-CGH analysis of a complex chromosome 3 aberration suggests that loss of CNTN4 and CRBN contributes to mental retardation in 3pter deletions. Am J Med Genet. 2006, 140A:2482-2487.
    • (2006) Am J Med Genet. , vol.140 A , pp. 2482-2487
    • Dijkhuizen, T.1    van Essen, T.2    van der Vlies, P.3    Verheij, J.B.G.M.4    Sikkema-Raddatz, B.5    van der Veen, A.Y.6
  • 24
    • 0031682085 scopus 로고    scopus 로고
    • In silico-initiated cloning and molecular characterization of a novel human member of the L1 gene family of neural cell adhesion molecules
    • Wei M.-H., Karavanova I., Ivanov S.V., Popescu N.C., Keck C.L., Pack S., et al. In silico-initiated cloning and molecular characterization of a novel human member of the L1 gene family of neural cell adhesion molecules. Hum Genet 1998, 103:355-364.
    • (1998) Hum Genet , vol.103 , pp. 355-364
    • Wei, M.-H.1    Karavanova, I.2    Ivanov, S.V.3    Popescu, N.C.4    Keck, C.L.5    Pack, S.6
  • 25
    • 10744233700 scopus 로고    scopus 로고
    • CALL interrupted in a patient with non-specific mental retardation: Gene dosage-dependent alteration of murine brain development and behavior
    • Frints S.G.M., Marynen P., Hartmann D., Fryns J.-P., Steyaert J., Schachner M., et al. CALL interrupted in a patient with non-specific mental retardation: Gene dosage-dependent alteration of murine brain development and behavior. Hum Mol Genet 2003, 12:1463-1474.
    • (2003) Hum Mol Genet , vol.12 , pp. 1463-1474
    • Frints, S.G.M.1    Marynen, P.2    Hartmann, D.3    Fryns, J.-P.4    Steyaert, J.5    Schachner, M.6
  • 26
    • 32444438094 scopus 로고    scopus 로고
    • Karyotype-phenotype analysis and molecular delineation of a 3p26 deletion/8q24.3 duplication case with a virtually normal phenotype and mild cognitive deficit
    • Shrimpton A.E., Jensen K.A., Hoo J.J. Karyotype-phenotype analysis and molecular delineation of a 3p26 deletion/8q24.3 duplication case with a virtually normal phenotype and mild cognitive deficit. Am J Med Genet 2006, 140A:388-391.
    • (2006) Am J Med Genet , vol.140 A , pp. 388-391
    • Shrimpton, A.E.1    Jensen, K.A.2    Hoo, J.J.3
  • 27
    • 75449083775 scopus 로고    scopus 로고
    • Terminal 3p deletions in two families - correlation between molecular karyotype and phenotype
    • Pohjola P., de Leeuw N., Penttinen M., Kääriäinen H. Terminal 3p deletions in two families - correlation between molecular karyotype and phenotype. Am J Med Genet 2010, 152A:441-446.
    • (2010) Am J Med Genet , vol.152 A , pp. 441-446
    • Pohjola, P.1    de Leeuw, N.2    Penttinen, M.3    Kääriäinen, H.4
  • 28
    • 84938321404 scopus 로고
    • Cornelia de Lange Syndrome
    • University of Washington, Seattle, Seattle (WA), [updated 2006 Aug 14], R.A. Pagon, T.D. Bird, C.R. Dolan, K. Stephens (Eds.)
    • Deardorff M.A., Clark D.M., Krantz I.D. Cornelia de Lange Syndrome. GeneReview [Internet] 1993-2005 Sep 16, University of Washington, Seattle, Seattle (WA), [updated 2006 Aug 14]. R.A. Pagon, T.D. Bird, C.R. Dolan, K. Stephens (Eds.).
    • (1993) GeneReview [Internet]
    • Deardorff, M.A.1    Clark, D.M.2    Krantz, I.D.3
  • 29
    • 0030035471 scopus 로고    scopus 로고
    • Partial duplication of 3q and distal deletion of 11q in a stillbirth with an omphalocele containing the liver, short limbs, and intrauterine growth retardation
    • Chen C.-P., Liu F.-F., Jan S.-W., Chen C.-P., Lan C.-C. Partial duplication of 3q and distal deletion of 11q in a stillbirth with an omphalocele containing the liver, short limbs, and intrauterine growth retardation. J Med Genet 1996, 33:615-617.
    • (1996) J Med Genet , vol.33 , pp. 615-617
    • Chen, C.-P.1    Liu, F.-F.2    Jan, S.-W.3    Chen, C.-P.4    Lan, C.-C.5
  • 31
    • 0032972382 scopus 로고    scopus 로고
    • Inconsistency of omphalocele contents in three consecutive siblings with partial trisomy 3q and partial monosomy 11q
    • Chen C.-P. Inconsistency of omphalocele contents in three consecutive siblings with partial trisomy 3q and partial monosomy 11q. Prenat Diagn 1999, 19:591.
    • (1999) Prenat Diagn , vol.19 , pp. 591
    • Chen, C.-P.1
  • 32
    • 34247482797 scopus 로고    scopus 로고
    • Chromosomal abnormalities associated with omphalocele
    • Chen C.-P. Chromosomal abnormalities associated with omphalocele. Taiwan J Obstet Gynecol 2007, 46:1-8.
    • (2007) Taiwan J Obstet Gynecol , vol.46 , pp. 1-8
    • Chen, C.-P.1
  • 33
    • 0034010976 scopus 로고    scopus 로고
    • De novo partial duplication of 3q and distal deletion of 20p in a 15-week abortus with omphalocele
    • Cinti R., Botta G., Asnaghi V., Del Monaco A., Salvego M., Silengo M. De novo partial duplication of 3q and distal deletion of 20p in a 15-week abortus with omphalocele. Fetal Diagn Ther 2000, 15:61-62.
    • (2000) Fetal Diagn Ther , vol.15 , pp. 61-62
    • Cinti, R.1    Botta, G.2    Asnaghi, V.3    Del Monaco, A.4    Salvego, M.5    Silengo, M.6
  • 35
    • 0035142060 scopus 로고    scopus 로고
    • Prenatal diagnosis of partial trisomy 3q(3q22→qter) and monosomy 6q(6q25.3→qter) in a fetus with sonographic findings of cystic hygroma colli and unilateral pleural effusion
    • Chen C.-P. Prenatal diagnosis of partial trisomy 3q(3q22→qter) and monosomy 6q(6q25.3→qter) in a fetus with sonographic findings of cystic hygroma colli and unilateral pleural effusion. Prenat Diagn 2001, 21:73.
    • (2001) Prenat Diagn , vol.21 , pp. 73
    • Chen, C.-P.1
  • 36
    • 18244375526 scopus 로고    scopus 로고
    • Prenatal foetal diagnosis of partial trisomy 3q and monosomy 13p due to a maternal balanced rearrangement
    • Pires A., Ramos L., Venâncio M., Rei A.I., Castedo S., Saraiva J. Prenatal foetal diagnosis of partial trisomy 3q and monosomy 13p due to a maternal balanced rearrangement. Prenat Diagn 2005, 25:292-295.
    • (2005) Prenat Diagn , vol.25 , pp. 292-295
    • Pires, A.1    Ramos, L.2    Venâncio, M.3    Rei, A.I.4    Castedo, S.5    Saraiva, J.6
  • 37
    • 0030448727 scopus 로고    scopus 로고
    • Prenatal diagnosis of terminal deletion 7q and partial trisomy 3p in fetuses with holoprosencephaly
    • Chen C.-P., Liu F.-F., Jan S.-W., Lin C.-L., Lan C.-C. Prenatal diagnosis of terminal deletion 7q and partial trisomy 3p in fetuses with holoprosencephaly. Clin Genet 1996, 50:321-326.
    • (1996) Clin Genet , vol.50 , pp. 321-326
    • Chen, C.-P.1    Liu, F.-F.2    Jan, S.-W.3    Lin, C.-L.4    Lan, C.-C.5
  • 38
    • 17844369432 scopus 로고    scopus 로고
    • Multiple congenital malformations including severe eye anomalies and abnormal cerebellar development with Dandy-Walker malformation in a girl with partial trisomy 3q
    • de Azevedo Moreira L.M., Neri F.B., de Quadros Uzêda S., de Carvalho A.F.L., Santana G.C., Souza F.R., et al. Multiple congenital malformations including severe eye anomalies and abnormal cerebellar development with Dandy-Walker malformation in a girl with partial trisomy 3q. Ophthalmic Genet 2005, 26:37-43.
    • (2005) Ophthalmic Genet , vol.26 , pp. 37-43
    • de Azevedo Moreira, L.M.1    Neri, F.B.2    de Quadros Uzêda, S.3    de Carvalho, A.F.L.4    Santana, G.C.5    Souza, F.R.6
  • 39
    • 33645410038 scopus 로고    scopus 로고
    • Prenatal cranial ultrasound features of duplication chromosome 3q(21-24)
    • Roberts N., Elmslie F., Rich P., Johnson R., Bhide A. Prenatal cranial ultrasound features of duplication chromosome 3q(21-24). Prenat Diagn 2006, 26:293-295.
    • (2006) Prenat Diagn , vol.26 , pp. 293-295
    • Roberts, N.1    Elmslie, F.2    Rich, P.3    Johnson, R.4    Bhide, A.5
  • 40
    • 0028558375 scopus 로고
    • Subchromosomal band interval mapping and ordering of DNA markers in the region 3q26.3-q27 involved in the dup(3q) syndrome
    • Rizzu P., Baldini A. Subchromosomal band interval mapping and ordering of DNA markers in the region 3q26.3-q27 involved in the dup(3q) syndrome. Genomics 1994, 24:580-582.
    • (1994) Genomics , vol.24 , pp. 580-582
    • Rizzu, P.1    Baldini, A.2
  • 43
    • 30144433919 scopus 로고    scopus 로고
    • Familial complex 3q;10q rearrangement unraveled by subtelomeric FISH analysis
    • Battaglia A., Novelli A., Ceccarini C., Carey J.C. Familial complex 3q;10q rearrangement unraveled by subtelomeric FISH analysis. Am J Med Genet 2006, 140A:144-150.
    • (2006) Am J Med Genet , vol.140 A , pp. 144-150
    • Battaglia, A.1    Novelli, A.2    Ceccarini, C.3    Carey, J.C.4
  • 44
    • 70449377355 scopus 로고    scopus 로고
    • Essentially" pure trisomy 3q27→qter: further delineation of the partial trisomy 3q phenotype
    • Grossmann V., Müller D., Muller W., Fresser F., Erdel M., Janecke A.R., et al. Essentially" pure trisomy 3q27→qter: further delineation of the partial trisomy 3q phenotype. Am J Med Genet 2009, 149A:2522-2526.
    • (2009) Am J Med Genet , vol.149 A , pp. 2522-2526
    • Grossmann, V.1    Müller, D.2    Muller, W.3    Fresser, F.4    Erdel, M.5    Janecke, A.R.6
  • 45
    • 78649642687 scopus 로고    scopus 로고
    • Delineation of the breakpoints of pure duplication 3q due to a de novo duplication event using SOMA
    • Shanske A.L., Leonard J., Nahum O., Coppock D.L., Levy B. Delineation of the breakpoints of pure duplication 3q due to a de novo duplication event using SOMA. Am J Med Genet 2010, 152A:3185-3188.
    • (2010) Am J Med Genet , vol.152 A , pp. 3185-3188
    • Shanske, A.L.1    Leonard, J.2    Nahum, O.3    Coppock, D.L.4    Levy, B.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.