Trisomy 4p and partial monosomy 18q due to paternal translocation t(4;18) (p11; q21.3)

被引：0
|
作者：
Thanemozhi G. [1 ]
Santhiya S.T. [1 ]
Chandra N. [1 ]
Palka G. [2 ]
Jayam S. [3 ]
Gopinath P.M. [1 ,4 ]
机构：
[1] Department of Genetics, Dr. A.L.M. Post Grad. Inst. Basic M., University of Madras, Taramani, Chennai
[2] Department of Biomedical Sciences, University of Chieti, Cheiti
[3] Vijaya Hospital, Chennai
[4] Department of Genetics, Dr. A.L.M. Post Grad. Inst. Basic M., University of Madras, Taramani
来源：
The Indian Journal of Pediatrics | 2000年 / 67卷 / 8期
关键词：
Partial monosomy 18q; Trisomy; 4p;
D O I：
10.1007/BF02758495
中图分类号：
学科分类号：
摘要：
A carrier status for balanced translocation in either of the parents increases the risk of congenital malformation in the offspring. A case of multiple congenital anomalies in a female newborn was found to be associated with trisomy 4p and partial monosomy 18q as a result of a reciprocal translocation, t(4; 18) (p11; q21.3) in the father. The clinical and cytogenetic findings are compared with characteristic features of trisomy 4p, monosomy 18q and two similar cases reported earlier.
引用
收藏
页码：601 / 604
页数：3
相关论文
共 50 条
  • [21] FAMILIAL OBSERVATION OF PARTIAL TRISOMY OF CHROMOSOME 6 BY PARENTAL TRANSLOCATION, WITH PROBABLE PARTIAL MONOSOMY 18Q
    DEMMA, C
    CRIPPA, L
    DELOZIER, C
    MICHAIL, E
    GRABER, P
    JOURNAL DE GENETIQUE HUMAINE, 1982, 30 (01): : 39 - 50
  • [22] Partial trisomy 4q due to a maternal translocation: t(4;18)(q27;q21.31)
    VanBuggenhout, G
    Moerman, P
    Fryns, JP
    GENETIC COUNSELING, 1997, 8 (01): : 19 - 24
  • [23] MULTIPLE MALFORMATIONS DUE TO PARTIAL TRISOMY-4P AND PARTIAL MONOSOMY-18Q RESULT OF MEIOTIC RECOMBINATION
    HOO, JJ
    FUHRMANNRIEGER, A
    FOERSTER, W
    DOPPL, W
    PASCU, F
    BAUER, J
    MONATSSCHRIFT KINDERHEILKUNDE, 1983, 131 (03) : 169 - 172
  • [24] PARTIAL TRISOMY 11q AND PARTIAL MONOSOMY 12p DUE TO THE MATERNAL TRANSLOCATION (11q;12p)
    Tos, T.
    Alp, M. Y.
    Eker, H. K.
    Cebi, A. H.
    Okumus, N.
    Ikbal, M.
    GENETIC COUNSELING, 2013, 24 (03): : 343 - 345
  • [25] PARTIAL TRISOMY-4Q - 2 CASES RESULTING FROM A FAMILIAL TRANSLOCATION T(4-18)(Q27-P11)
    BONFANTE, A
    STELLA, M
    ROSSI, G
    HUMAN GENETICS, 1979, 52 (01) : 85 - 90
  • [26] Familial 4;18 chromosome translocation resulting in trisomy 4p and monosomy 18p: affected individuals with discordant phenotype
    Berman, Deborah R.
    Couyoumjian, Carrie A.
    Treadwell, Marjorie C.
    Barr, Mason, Jr.
    PRENATAL DIAGNOSIS, 2009, 29 (05) : 538 - 540
  • [27] Prenatal diagnosis of a foetus with partial monosomy 4p and partial trisomy 13q
    Dogan, Muhammet E.
    Kutuk, Mehmet Serdar
    Bayramov, Ruslan
    Saatci, Cetin
    Ozkul, Yusuf
    Dundar, Munis
    JOURNAL OF BIOTECHNOLOGY, 2017, 256 : S76 - S76
  • [28] Trisomy 4p as result of a maternal translocation t(4;8) (q11;p23)
    Stumm, M
    Reuter, M
    Mandon, U
    Brückner, R
    Wieacker, P
    KLINISCHE PADIATRIE, 1999, 211 (01): : 35 - 39
  • [29] Partial trisomy 18q due to a maternal insertion (2;18).
    Campora, L
    Zelaya, G
    Montanari, D
    Scheifer, J
    Barreiro, C
    Gallego, M
    AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (04) : 156 - 156
  • [30] Partial trisomy 4q and monosomy 18p resulting from a de novo unbalanced translocation.
    Devers, PL
    Asamoah, A
    Zubrickas, K
    Van Dyke, DL
    AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (04) : 125 - 125
12345