Trisomy 7p: Report of 2 patients and literature review

被引：0
|
作者：
Arens, YHJM
Toutain, A
Engelen, JJM
Offermans, JPM
Hamers, AJH
Schrander, JJP
Pulles-Heintzberger, CFM
Schrander-Stumpel, CTRM
机构：
[1] Acad Hosp Maastricht, Dept Clin Genet, Maastricht, Netherlands
[2] Acad Hosp Maastricht, Dept Obstet, Maastricht, Netherlands
[3] Acad Hosp Maastricht, Dept Pediat, Maastricht, Netherlands
[4] CHU Tours, Serv Genet, Tours, France
来源：
GENETIC COUNSELING | 2000年 / 11卷 / 04期
关键词：
trisomy; 7p; mental retardation;
D O I：
暂无
中图分类号：
Q81 [生物工程学（生物技术）]; Q93 [微生物学];
学科分类号：
071005 ; 0836 ; 090102 ; 100705 ;
摘要：
Both were assessed by facial dysmorphism and congenital anomalies. In one of the patients trisomy 7p was a de novo event, in the other patient unbalanced inheritance of a parental translocation caused trisomy 7p. Developmental delay was severe in both. Our 2 cases are compared with patients reported in literature.
引用
收藏
页码：347 / 354
页数：8
相关论文
共 50 条
  • [1] Further delineation of 7p trisomy - Case report and review of literature
    Pallotta, R
    Dalpra, L
    Fusilli, P
    Zuffardi, O
    ANNALES DE GENETIQUE, 1996, 39 (03): : 152 - 158
  • [2] 2 CHILDREN WITH PARTIAL TRISOMY FOR 7P
    BERRY, AC
    HONEYCOMBE, J
    MACOUN, SJR
    JOURNAL OF MEDICAL GENETICS, 1979, 16 (04) : 320 - 321
  • [3] A report of pure 7p duplication syndrome and review of the literature
    Papadopoulou, E.
    Sifakis, S.
    Sarri, C.
    Gyftodimou, J.
    Liehr, T.
    Mrasek, K.
    Kalmanti, M.
    Petersen, M. B.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2006, 140A (24) : 2802 - 2806
  • [4] Cardiac malformation of partial trisomy 7p/monosomy 18p and partial trisomy 18p/monosomy 7p in siblings as a result of reciprocal unbalanced malsegregation—and review of the literature
    Beate Schmidt
    Floris Udink ten Cate
    Michael Weiß
    Udo Koehler
    European Journal of Pediatrics, 2012, 171 : 1047 - 1053
  • [5] 7P PARTIAL TRISOMY SYNDROME
    WILLNER, JP
    PACIUC, S
    CRISTIAN, S
    HSU, LYF
    MURPHY, R
    HIRSCHHORN, K
    PEDIATRIC RESEARCH, 1977, 11 (04) : 530 - 530
  • [6] Cardiac malformation of partial trisomy 7p/monosomy 18p and partial trisomy 18p/monosomy 7p in siblings as a result of reciprocal unbalanced malsegregation-and review of the literature
    Schmidt, Beate
    ten Cate, Floris Udink
    Weiss, Michael
    Koehler, Udo
    EUROPEAN JOURNAL OF PEDIATRICS, 2012, 171 (07) : 1047 - 1053
  • [7] EMERGING PHENOTYPE OF DUPLICATION (7P) - A REPORT OF 3 CASES AND REVIEW OF THE LITERATURE
    MILUNSKY, JM
    WYANDT, HE
    MILUNSKY, A
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1989, 33 (03): : 364 - 368
  • [8] Greater trochanteric stippling in trisomy 7p
    Wilde, Justin R.
    Teele, Rita L.
    Aftimos, Salim
    PEDIATRIC RADIOLOGY, 2006, 36 (08) : 863 - 865
  • [9] Greater trochanteric stippling in trisomy 7p
    Justin R. Wilde
    Rita L. Teele
    Salim Aftimos
    Pediatric Radiology, 2006, 36 : 863 - 865
  • [10] DUPLICATION 7P DENOVO AND LITERATURE-REVIEW
    ZERRES, K
    SCHWANITZ, G
    GELLISSEN, K
    SCHROERS, L
    SOHLER, R
    ANNALES DE GENETIQUE, 1989, 32 (04): : 225 - 229
12345