摘要:

AbstractDeoxyuridine (dU) increases chromosome breakage at folic acid (FA)‐sensitive common fragile sites (mostly 3pl4 and 16q23) in human lymphocytes. This dU‐related increase can be suppressed by thymidine or FA. These results suggest that the mechanism of fragile site expression in low FA medium involves misincorporation of dU into

ISSN:0148-7299    

DOI:10.1002/ajmg.1320260102

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1987

数据来源: WILEY

摘要:

AbstractA 17‐year‐old retarded male developed unilateral leg weakness with foot drop, pain, and incontinence. Workup disclosed a cauda equina tumor which, on surgical exploration, was demonstrated to merge with the conus medullaris. Pathological examination of the subtotally resected tumor led to a diagnosis of malignant ganglioglioma. Further evaluation of the patient documented marginal macro‐orchidism, and chromosome studies showed fragile X. Since some neoplasms are known to be associated with chromosomal deletions and other abnormalities, we suggest that the occurrence of this tumor in this patient indicates a more than coincidental relationship between the two diag

ISSN:0148-7299    

DOI:10.1002/ajmg.1320260103

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1987

数据来源: WILEY

ISSN:0148-7299    

DOI:10.1002/ajmg.1320260104

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1987

数据来源: WILEY

ISSN:0148-7299    

DOI:10.1002/ajmg.1320260105

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1987

数据来源: WILEY

摘要:

AbstractWe suggest the existence of an autosomal suppressor gene,S, which is fairly common in the general population and acts to inhibit expression of the fra(X) gene,F. The suppression is effective in males who are hemizygous forFonly if they are homozygous forS, while it is effective in females who are heterozygous forFif they are at least heterozygous forS. Thus, the fra(X) phenotype is not expressed in genotypesF‐SS,FfSS,FfSs, while it is expressed in genotypesF‐Ss,F‐ss,Ffss.With a frequency ofSSin the general population of approximately 20%, this hypothesis can explain the observed penetrance of about 80% inF‐ males and about 30% inFffemales. It can also explain the very low frequency of fra(X) expression inFffemales who are daughters or mothers of non‐penetrantF‐ males, and a lower penetrance in siblings of non‐penetrantF‐ males than in grandsons of these males. The model is in good quantitative agreement with other unique characteristics of fra

ISSN:0148-7299    

DOI:10.1002/ajmg.1320260106

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1987

数据来源: WILEY

ISSN:0148-7299    

DOI:10.1002/ajmg.1320260107

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1987

数据来源: WILEY

ISSN:0148-7299    

DOI:10.1002/ajmg.1320260108

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1987

数据来源: WILEY

ISSN:0148-7299    

DOI:10.1002/ajmg.1320260109

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1987

数据来源: WILEY

摘要:

AbstractIn 1964, Smith et al described a syndrome of microcephaly, growth and mental retardation, unusual facial appearance, syndactyly of toes 2 and 3, and genital abnormalities. Major structural malformations and early death have been uncommon in the many subsequent literature reports. We report on 19 infants with a phenotype we propose to call Smith‐Lcmli‐Opitz syndrome (SLOS)‐Type II, in which major structural abnormalities, male pseudohermaphroditism, and early lethality are common. Of these 19 patients, 18 had postaxial hexaclactyly, 16 had congenital heart defect, 13 had cleft palate, and 10 had cataracts. Unusual findings seen in those patients at autopsy included Hirschsprung “disease” in five patients, unilobatod lungs in six, large adrenals in four, and pancreatic islet cell hypciplasia in three. Comparison of our cases to 19 similar literature cases suggests the existence of a distinct phenotype that may be separate from SLOS as originally described. It is also inherited as an autosomal recessive, as documented by occurrence in one pair of sibs in this study and recurrence in three reported

ISSN:0148-7299    

DOI:10.1002/ajmg.1320260110

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1987

数据来源: WILEY

摘要:

AbstractWe report on two sib fetuses with similar abnormalities detected prenatally by ultrasound. The first fetus had micrognathia, was without cleft palate, and had low‐set ears, double outlet right ventricle with a ventricular septal defect, and 46,XY gonadal dysgenesis. The second sib fetus was born with cleft lip and palate, micrognathia, transposition of the great vessels, ventricular seplal defect, a right‐sided aorta arch, and bilateral cystic kidneys with hypospadias. We were able to identify 11 additional cases in the literature with similar findings. We think this set of defects is a recognizable syndrome that appears to be inherited either as an autosomal recessive or as an X‐linked recessive and may overlap with the Smith‐Lemli‐Opitz

ISSN:0148-7299    

DOI:10.1002/ajmg.1320260111

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1987

数据来源: WILEY