PARTIAL 18Q-TRISOMY AND 18P-MONOSOMY RESULTING FROM A MATERNAL PERICENTRIC-INVERSION, INV(18)(P11.2Q21.3)

被引：16
|
作者：
ASANO, T
IKEUCHI, T
SHINOHARA, T
ENOKIDO, H
HASHIMOTO, K
机构：
[1] NIPPON MED COLL,DEPT PEDIAT,BUNKYO KU,TOKYO 113,JAPAN
[2] TOKYO MED & DENT UNIV,MED RES INST,DEPT CYTOGENET,BUNKYO KU,TOKYO 113,JAPAN
[3] JAPAN RED CROSS MED CTR,DEPT HUMAN CYTOGENET,SHIBUYA KU,TOKYO 150,JAPAN
[4] SHIMODATE CITY HOSP,DEPT PEDIAT,SHIMODATE,IBARAKI 308,JAPAN
来源：
JAPANESE JOURNAL OF HUMAN GENETICS | 1991年 / 36卷 / 03期
关键词：
CHROMOSOME-18; RECOMBINANT CHROMOSOME; PARTIAL MONOSOMY-18P; PARTIAL TRISOMY-18Q;
D O I：
10.1007/BF01910544
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
A 7-year-old boy with dysmorphic features was found to have a recombinant chromosome 18, rec(18), resulting from meiotic recombination of a maternal pericentric inversion, inv(18) (p11.2q21.3), as defined by high-resolution banding. He was trisomic for the long arm (q21.3-qter) and monosomic for the short arm (p11.2-pter) of chromosome 18. His clinical features were compared with those in other rec(18) cases, and also those in monosomy 18p, trisomy 18qter and full trisomy 18 syndromes. The risk of recombinant formation for inv(18) carriers was also discussed.
引用
收藏
页码：257 / 265
页数：9
相关论文
共 50 条
  • [31] PARTIAL TRISOMY 2p24→pter AND MONOSOMY 18q22.1→pter RESULTING FROM PARENTAL TRANSLOCATION
    Atik, T.
    Durmaz, B.
    Yorganci, O. U.
    Cogulu, O.
    Kioutsouk, M.
    Ozkinay, F.
    GENETIC COUNSELING, 2013, 24 (02): : 179 - 184
  • [32] SIMULTANEOUS TRISOMY 16Q23-]Q TER AND MONOSOMY 18P
    PLASCENCIA, L
    HERNANDEZ, A
    RIVAS, F
    RAMIREZ, ML
    SANCHEZCORONA, J
    CANTU, JM
    REVISTA DE INVESTIGACION CLINICA-CLINICAL AND TRANSLATIONAL INVESTIGATION, 1981, 33 (02): : 247 - 247
  • [33] Prenatal diagnosis of holoprosencephaly (HPE) in a fetus with a recombinant (18)dup(18q)inv(18)(p11.31q11.2)mat
    Leonard, NJ
    Tomkins, DJ
    Demianczuk, N
    PRENATAL DIAGNOSIS, 2000, 20 (12) : 947 - 949
  • [34] Prenatal diagnosis of holoprosencephaly in a fetus with a recombinant 18 dup(18q)inv(18)(p11.31q11.2) mat.
    Leonard, NJ
    Tomkins, DJ
    Demianczuk, N
    AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (04) : A169 - A169
  • [35] 母体inv(18)(p11.3q11.2)致胎儿部分del(18p)/dup(18q)一例
    贾春澍
    王轩
    李琳琳
    李德军
    陈爽
    刘睿智
    张红国
    中华医学遗传学杂志, 2021, (08) : 822 - 822
  • [36] Prenatal diagnosis and molecular cytogenetic characterization of partial dup (18p)/del (18q) due to a maternal pericentric inversion 18 in a foetus with multiple anomalies
    Atli, Emine Ikbal
    Atli, Engin
    Inan, Cihan
    Varol, Gulizar Fusun
    Mail, Cisem
    Erbilen, Esra Altan
    Yalcintepe, Sinem
    Demir, Selma
    Gurkan, Hakan
    TAIWANESE JOURNAL OF OBSTETRICS & GYNECOLOGY, 2022, 61 (03): : 504 - 509
  • [37] 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
  • [38] PARTIAL MONOSOMY 9p (9p22.2→pter) AND PARTIAL TRISOMY 18q (18q21.32→qter) IN A FEMALE INFANT WITH ANORECTAL MALFORMATIONS
    Chen, C. -P
    Lin, H. -M
    Leung, C.
    Lin, S. -P
    Su, Y-N.
    Su, J. -W
    Chen, Y-T
    Wang, W.
    GENETIC COUNSELING, 2012, 23 (02): : 201 - 206
  • [39] TRANSLOCATION 1-18 SEGREGATING IN A LARGE PEDIGREE - A MEMBER WITH A PARTIAL 18Q TRISOMY AND ANOTHER WITH A PARTIAL 18Q MONOSOMY
    QUINTANA, A
    SORDO, MT
    LOZANO, C
    CLINICAL GENETICS, 1988, 33 (06) : 466 - 467
  • [40] Partial trisomy 10 (10q11.2→pter) and partial trisomy 18 (18p11.2→pter) associated with abnormal sonographic findings and a maternal serum screen-positive result
    Chen, CP
    Chang, TY
    Town, DD
    Chen, LF
    Pan, CW
    Wang, W
    Tzen, CY
    ULTRASOUND IN OBSTETRICS & GYNECOLOGY, 2004, 23 (02) : 202 - 204
12345