Partial duplication of the long arm of chromosome 4
Fryns, J.P.; van den Berghe, H.
Annales de Genetique 23(1): 52-53
1980
ISSN/ISBN: 0003-3995 PMID: 6965843 Document Number: 167642
A 6,5 years old mentally retarded girl with duplication 4(q25 leads to q31) is reported. She presented the major clinical stigmata commonly found in partial 4q trisomy.
Document emailed within 1 workday
Related Documents
Saat, H.; Soysal, Y.; Kurtgoz, S.; Ergun, M.A.; Percin, E.F. 2015: A Patient with Partial Chromosome 12q Duplication and 10q Deletion Genetic Counseling 26(4): 401-407Fryns, J.P. 1996: Gingival fibromatosis and partial duplication of the short arm of chromosome 2 (dup(2)(p13-->p21)) Annales de Genetique 39(1): 54-55
Lenzini, E.; Leszl, A.; Artifoni, L.; Casellato, R.; Tenconi, R.; Baccichetti, C. 1988: Partial duplication of 17 long arm Annales de Genetique 31(3): 175-180
Ito, M.; Mutoh, K.; Okuno, T.; Mikawa, H.; Edagawa, J.; Abe, T. 1983: De novo tandem duplication of the middle segment of the long arm of chromosome 14 Annales de Genetique 26(2): 116-119
Zaletaev, D.V.; Dadali, E.L. 1986: Syndrome of partial monosomy of the long arm of chromosome 16 Pediatriia 12: 50-52
Barletta, C.; Werner, B.; Ferrante, E.; Multari, G.; Tozzi, M.C.; Digilio, G.; Vignetti, P. 1985: Partial deletion of the long arm of chromosome 17 in acute promyelocitic leukemia Haematologica 70(2): 171-173
Fineman, R.M.; Hecht, F.; Ablow, R.C.; Howard, R.O.; Breg, W.R. 1978: Chromosome 3 duplication q/deletion p syndrome Pediatrics 61(4): 611-618
Rijhsinghani, A.G.; Hruban, R.H.; Stetten, G. 1988: Fetal anomalies associated with an inversion duplication 13 chromosome Obstetrics and Gynecology 71(6 Part 2): 991-994
De la Fuente, A.A.; Gerssen-Schoorl, K.B.; Breed, A.S. 1988: Partial duplication 14q/deletion 2q in two sibs due to t(2;14) (q37.1;q31.2) pat Annales de Genetique 31(4): 254-257
Tschernigg, M.; Petek, E.; Leonhardtsberger, A.; Wagner, K.; Kroisel, P.M. 2002: Terminal tandem duplication of 16p: a case with "pure" partial trisomy (16)(pter-->p13) Genetic Counseling 13(3): 303-307
Prieto, F.; Badia, L.; Mayans, J.; Besalduch, J.; Marty, M.L. 1978: Trysomy of chromosome 1 long arms plus chromosome 9 inversion in leukaemic cells Sangre 23(1): 64-68
Karcaaltincaba, D.; Ceylaner, S.; Ceylaner, G.; Dalkilic, S.; Karli-Oguz, K.; Kandemir, O. 2010: Partial trisomy due to a de novo duplication 22q11.1-22q13.1: a cat-eye syndrome variant with brain anomalies Genetic Counseling 21(1): 19-24
El-Ruby, M.; Hemly, N.A.; Zaki, M.S. 2007: Maternal balanced translocation (4;21) leading to an offspring with partial duplication of 4q and 21q without phenotypic manifestations of Down syndrome Genetic Counseling 18(2): 217-226
Iannetti, P.; Spalice, A.; Mingarelli, R.; Raucci, U.; Novelli, A.; Dallapiccola, B. 1996: Myoclonic epilepsy, neuroblast migration disorders, and maternally derived partial duplication 14q/deletion 15q Annales de Genetique 39(1): 26-30
Kleczkowska, A.; Decock, P.; van den Berghe, H.; Fryns, J.P. 1994: Borderline intelligence and discrete craniofacial dysmorphism in an adolescent female with partial trisomy 7p due to a de novo tandem duplication 7 (p15.1-->p21.3) Genetic Counseling 5(4): 393-397
Yang, W.; Hu, Z.-j.; Yu, X.-f.; Li, Q.-h.; Zhang, A.-j.; Deng, X.; Zhang, A.-y.; Gao, C.-s.; Liu, Y.; Ao, Y.; Lo, W.H.-Y.; Zhang, X. 2006: A DNA duplication at chromosome 10q24.3 is associated with split-hand split-foot malformation in a Chinese family Zhonghua Yi Xue Za Zhi 86(10): 652-658
Yeatman, G.W.; Riccardi, V.M. 1976: Partial trisomy of chromosome 14: (+14q-) Birth Defects Original Article Series 12(5): 119-124
Serville, F.; Allain, D.; Broustet, A.; Martin, C.; Gachet, M.; Babin, J.P.; Cenraud, J. 1976: Partial deletion of the short arm of the chromosome 9 Annales de Genetique 19(2): 143
Rogóyski, A.; Babel, M.; Tronowska, T.D. 1983: Partial trisomy of chromosome 22 in an infant Pediatria Polska 58(6): 561-564
Vaillaud, J.C.; Martin, J.; Ayraud, N. 1970: A recent case of partial deletion of short arm of chromosome 18 Annales de Genetique 13(2): 120-122