Detection of i(12p) in lymphocytes in Pallister-Killian syndrome (PKS). Clinical similarities with Fryns Syndrome (FS) and implications on counseling.

被引:0
|
作者
Furforo, L
Rittler, M
Sponsa, S
Slavutsky, I
机构
[1] Hosp Materno Infantil Ramon Sarda, Secc Genet Med, Buenos Aires, DF, Argentina
[2] Acad Nacl Med, Inst Invest Hematol, Dept Genet, Buenos Aires, DF, Argentina
关键词
D O I
暂无
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
709
引用
收藏
页码:A125 / A125
页数:1
相关论文
共 50 条
  • [21] IS PALLISTER-KILLIAN SYNDROME UNDERDIAGNOSED - A FRENCH COLLABORATIVE STUDY OF MOSAIC TETRASOMY 12P
    MATHIEU, M
    PIUSSAN, C
    THEPOT, F
    SERVILLE, F
    FONTA, D
    RUFFLER, M
    NIVELONCHEVALLIER, A
    TURCCAREL, C
    CHAUVEAU, P
    MOIROT, H
    CHABROLLE, JP
    MOTTE, J
    ESCHARD, C
    CROQUETTE, MF
    JOURNEL, H
    TURLEAU, C
    GOUGET, A
    PELISSIER, MC
    TEYSSIER, M
    PLAUCHU, H
    AMBLARD, F
    GILGENKRANZ, S
    LEMERRER, M
    PRIEUR, M
    AMERICAN JOURNAL OF HUMAN GENETICS, 1995, 57 (04) : 532 - 532
  • [22] Pallister-Killian Syndrome in a Girl With Mild Developmental Delay and Mosaicism for Hexasomy 12p
    Vogel, Ida
    Lyngbye, Troels
    Nielsen, Alice
    Pedersen, Soren
    Hertz, Jens Michael
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2009, 149A (03) : 510 - 514
  • [23] Seizures and Cardiomyopathy in a Patient with Pallister-Killian Syndrome due to Hexasomy 12p Mosaicism
    Toydemir, Reha M.
    Panza, Emanuele
    Longhurst, Maria C.
    South, Sarah T.
    Rope, Alan F.
    MOLECULAR SYNDROMOLOGY, 2020, 11 (03) : 125 - 129
  • [24] TETRASOMY 12P (PALLISTER-KILLIAN SYNDROME) - ULTRASOUND INDICATORS AND CONFIRMATION BY INTERPHASE FISH
    WILSON, RD
    HARRISON, K
    CLARKE, LA
    YONG, SL
    PRENATAL DIAGNOSIS, 1994, 14 (09) : 787 - 792
  • [25] 12p microRNA expression in fibroblast cell lines from probands with Pallister-Killian syndrome
    Izumi, Kosuke
    Zhang, Zhe
    Kaur, Maninder
    Krantz, Ian D.
    CHROMOSOME RESEARCH, 2014, 22 (04) : 453 - 461
  • [26] 12p microRNA expression in fibroblast cell lines from probands with Pallister-Killian syndrome
    Kosuke Izumi
    Zhe Zhang
    Maninder Kaur
    Ian D Krantz
    Chromosome Research, 2014, 22 : 453 - 461
  • [27] Collaborative study of mosaic tetrasomy 12p or Pallister-Killian syndrome (nineteen fetuses or children)
    Mathieu, M
    Piussan, C
    Thepot, F
    Gouget, A
    Lacombe, D
    Pedespan, JM
    Serville, F
    Fontan, D
    Ruffie, M
    NivelonChevallier, A
    Amblard, F
    Chauveau, P
    Moirot, H
    Chabrolle, JP
    Croquette, MF
    Teyssier, M
    Plauchu, H
    Pelissier, MC
    Gilgenkrantz, S
    TurcCarel, C
    Turleau, C
    Prieur, M
    LeMerrer, M
    Gonzales, M
    Joye, N
    Taillemite, JL
    Bouillie, J
    Eschard, C
    Motte, J
    Journel, H
    ANNALES DE GENETIQUE, 1997, 40 (01): : 45 - 54
  • [28] NEW DIAGNOSTIC METHOD FOR PALLISTER-KILLIAN SYNDROME - DETECTION OF I(12P) IN INTERPHASE NUCLEI OF BUCCAL MUCOSA BY FLUORESCENCE INSITU HYBRIDIZATION
    OHASHI, H
    ISHIKIRIYAMA, S
    FUKUSHIMA, Y
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1993, 45 (01): : 123 - 128
  • [29] TISSUE-SPECIFICITY AND STABILITY OF MOSAICISM IN PALLISTER-KILLIAN +I(12P) SYNDROME - RELEVANCE FOR PRENATAL-DIAGNOSIS
    PRIEST, JH
    RUST, JM
    FERNHOFF, PM
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1992, 42 (06): : 820 - 824
  • [30] Pallister-Killian syndrome due to a novel chromosome abnormality: A case of 12p intrachromosomal triplication.
    Bedford, HM
    Unger, S
    Nowaczyk, M
    Teshima, I
    AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (04) : 317 - 317