Maternal origin of a unique extra chromosome, der(9)(pter→q13::q13→q12:) in a girl with typical trisomy 9p syndrome

被引:0
|
作者
Teraoka, M
Narahara, K
Yokoyama, Y
Ninomiya, S
Mizuta, S
Une, T
Seino, Y
机构
[1] Okayama Univ, Sch Med, Dept Pediat, Okayama 7008558, Japan
[2] Okayama Red Cross Hosp, Dept Pediat, Okayama, Japan
来源
AMERICAN JOURNAL OF MEDICAL GENETICS | 2001年 / 102卷 / 01期
关键词
trisomy 9p syndrome; dinucleotide repeat polymorphism; tetrasomy 9p syndrome;
D O I
10.1002/1096-8628(20010722)102:1<25::AID-AJMG1399>3.0.CO;2-B
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
We report on a girl with the typical trisomy 9p syndrome who had an additional E-sized metacentric chromosome. On the basis of GTG- and CBG-banding, her karyotype was considered to be 47,XX,+der(9)(pter-->q13:: q13-->q12:) de novo. Results of a fluorescence in situ hybridization study using a chromosome 9-specific painting probe were compatible with this cytogenetic interpretation. Molecular analyses of six highly polymorphic dinucleotide repeat loci on the short arm and the proximal long arm of chromosome 9 demonstrated that the girl inherited one allele from her father and two identical or different alleles from the mother. We speculated that the extra chromosome may have resulted from either nondisjunction of chromosome 9 followed by a U-type exchange and a crossing-over between different sister chromatids during maternal meiosis I and subsequent breakage and malsegregation during meiosis II, or nondisjunction during meiosis II followed by isochromosome formation in one of the two maternal chromosomes 9 and subsequent breakage. (C) 2001 Wiley-Liss, Inc.
引用
收藏
页码:25 / 28
页数:4
相关论文
共 50 条
  • [41] Molecular genetic delineation of a deletion of chromosome 13q12→q13 in a patient with autism and auditory processing deficits
    Smith, M
    Woodroffe, A
    Smith, R
    Holguin, S
    Martinez, J
    Filipek, PA
    Modahl, C
    Moore, B
    Bocian, ME
    Mays, L
    Laulhere, T
    Flodman, P
    Spence, MA
    CYTOGENETIC AND GENOME RESEARCH, 2002, 98 (04) : 233 - 239
  • [42] Clear cell sarcoma of tendons and aponeuroses with t(12;22) (q13;q12) diagnosed initially as malignant melanoma
    Nedoszytko, B
    Mrozek, K
    Roszkiewicz, A
    Kopacz, A
    Swierblewski, M
    Limon, J
    CANCER GENETICS AND CYTOGENETICS, 1996, 91 (01) : 37 - 39
  • [43] t(5;22)(q13;q12) variant translocation in a case of chronic myeloid leukemia refractory to treatment
    Haluk, Erkal
    Sukru, Ozturk
    Serap, Yucel
    Kivanc, Cefle
    Gulcin, Bagatir
    Ali, Ucur
    Birsen, Karaman
    Seher, Basaran
    Demet, Aydin
    Sukru, Palanduz
    CHROMOSOME RESEARCH, 2007, 15 : 223 - 223
  • [44] 46,XY,inv(9)(p11;q13)一例
    王海燕
    孙黎
    陈英剑
    中华医学遗传学杂志, 2005, (04) : 477 - 477
  • [45] Chondroid lipoma is characterized by t(11;16)(q13;p12-13)
    Ballaux, F
    Debiec-Rychter, M
    De Wever, I
    Sciot, R
    VIRCHOWS ARCHIV, 2004, 444 (02) : 208 - 210
  • [46] Round cell liposarcoma with the insertion (12;16)(q13;p11.2p13)
    Mrozek, K
    Szumigala, J
    Brooks, JSJ
    Crossland, DM
    Karakousis, CP
    Bloomfield, CD
    AMERICAN JOURNAL OF CLINICAL PATHOLOGY, 1997, 108 (01) : 35 - 39
  • [47] Chondroid lipoma is characterized by t(11;16)(q13;p12–13)
    Florence Ballaux
    Maria Debiec-Rychter
    Ivo De Wever
    Raf Sciot
    Virchows Archiv, 2004, 444 : 208 - 210
  • [48] The t(1;12)(p36;q13) in a renal oncocytoma
    DalCin, P
    VanPoppel, H
    Sciot, R
    DeVos, R
    VanDamme, B
    Baert, L
    VandenBerghe, H
    GENES CHROMOSOMES & CANCER, 1996, 17 (02): : 136 - 139
  • [49] Primitive small round cell tumour of the adrenal gland presenting with fever of unknown origin and t(12;22)(q13;q12) cytogenetic finding
    Lam, KY
    Lo, CY
    Shek, TWH
    Ma, ESK
    Au, WY
    Chan, GCF
    JOURNAL OF CLINICAL PATHOLOGY, 2001, 54 (12) : 966 - 969
  • [50] Fragile (12)(q13) chromosome associated with mental retardation and bilateral congenital cataract
    Keser, I
    Lüleci, G
    Sisli, S
    CYTOGENETICS AND CELL GENETICS, 1999, 85 (1-2): : 153 - 153