POSSIBLE ROLE OF IMPRINTING IN THE TURNER PHENOTYPE

被引:56
作者
CHU, CE
DONALDSON, MDC
KELNAR, CJH
SMAIL, PJ
GREENE, SA
PATERSON, WF
CONNOR, JM
机构
[1] YORKHILL HOSP,DEPT CHILD HLTH,GLASGOW,LANARK,SCOTLAND
[2] CHILD LIFE & HLTH,EDINBURGH,MIDLOTHIAN,SCOTLAND
[3] ROYAL ABERDEEN CHILDRENS HOSP,ABERDEEN,SCOTLAND
[4] NINEWELLS HOSP,DEPT CHILD HLTH,DUNDEE DD1 9SY,SCOTLAND
关键词
D O I
10.1136/jmg.31.11.840
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
We have attempted to investigate the role of imprinting in the phenotype of Turner's syndrome. Sixty-three patients were investigated for parental origin of the retained normal X chromosome; 43 were found to retain the maternal X (X(M)) and 20 the paternal (X(P)). The relationship between a child's pretreatment height centile and parental height centiles was examined in 36 patients. No significant correlation was found between child and parental height centiles for X(P) Or Child and paternal height centiles for X(M) (p>0.05) but a strong correlation was found between child's height centile and maternal height centile (p<0.01) for X(M). Using pooled data from this and other studies there was no significant correlation with renal anomalies but a strong correlation between cardiovascular abnormalities and X(M) (0.01>p>0.001) and neck webbing and X(M) (p<0.05). We conclude that imprinting may play a part in the Turner's syndrome phenotype, especially with respect to pretreatment height, cardiovascular anomalies, and neck webbing.
引用
收藏
页码:840 / 842
页数:3
相关论文
共 12 条
  • [1] BROOK CGD, 1974, ARCH DIS CHILD, V49, P789, DOI 10.1136/adc.49.10.789
  • [2] NECK WEB AND CONGENITAL HEART-DEFECTS - A PATHOGENIC ASSOCIATION IN 45 X-O TURNER SYNDROME
    CLARK, EB
    [J]. TERATOLOGY, 1984, 29 (03) : 355 - 361
  • [3] HASSOLD T, 1988, AM J HUM GENET, V42, P534
  • [4] A CYTOGENETIC AND MOLECULAR REAPPRAISAL OF A SERIES OF PATIENTS WITH TURNERS SYNDROME
    JACOBS, PA
    BETTS, PR
    COCKWELL, AE
    CROLLA, JA
    MACKENZIE, MJ
    ROBINSON, DO
    YOUINGS, SA
    [J]. ANNALS OF HUMAN GENETICS, 1990, 54 : 209 - 223
  • [5] LIPPE BM, 1990, TURNER SYNDROME, P183
  • [6] MOLECULAR STUDY OF 45,X CONCEPTUSES - CORRELATION WITH CLINICAL FINDINGS
    LORDASANCHEZ, I
    BINKERT, F
    MAECHLER, M
    SCHINZEL, A
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1992, 42 (04): : 487 - 490
  • [7] GROWTH CURVE FOR GIRLS WITH TURNER SYNDROME
    LYON, AJ
    PREECE, MA
    GRANT, DB
    [J]. ARCHIVES OF DISEASE IN CHILDHOOD, 1985, 60 (10) : 932 - 935
  • [8] MATHUR A, 1991, AM J HUM GENET, V48, P682
  • [9] ROSS JL, 1991, AM J HUM GENET, V49, pA19
  • [10] SALERNO MC, 1987, ARCH FR PEDIATR, V44, P863