ISSN:0148-7299    

DOI:10.1002/ajmg.1320190102

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

年代:1984

数据来源: WILEY

摘要:

AbstractWe describe clinically and cytogenetically a fetus with multiple congenital anomalies and partial dup(11 q) born to a phenotypically normal mother with a 3:1 translocation. Fetal anomalies included complete cleft of lip and palate, small penis, myelomenigocele, and abnormal palmar creases. We think chromosome analysis should be performed when neural tube defects are observed in otherwise dysmorphic neonates, stillbirths, and abortuses.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320190103

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

年代:1984

数据来源: WILEY

摘要:

AbstractThe present study population consist of 2,532 families ascertained through nonsyndromic cleft lip with or without cleft palate (CL ± P) surgical probands born in Denmark between 1941 and 1971. Three samples were derived for analyses of the trait “Clefted (CL ± P) or not.” Sample 1 consists of the4 26 largest multigenerational families with four or more affected members. Both samples 2‐MG and 2‐N consist of nuclear families with at least two children and at least one proband among the children. Sample 2‐mG contains 846 nuclear families derived from the kindreds with three or more generations. Sample 2‐N contains a further 1,181 kindreds with only two generations, nuclear family information available.Four methods of analysis were used: (1) Pedigree analysis was performed on each of the multigenerational kindreds of Sample 1. Results were consistent with autosomal recessive inheritance in eight families and codominant inheritance in three families. These simple genetic hypotheses could not be distinguished in the remaining 15 families. (2) The Goodness‐of‐fit of the multifactorial threshold (MF/T) model was tested in Samples 2‐MG, and 2‐N. The MF/T model was rejected in both samples. (3) Classical segregation analysis was performed on Samples 2‐MG and 2‐N. Results were consistent with a possible recessive major gene for CL ± P in Sample 2‐MG, but not in Sample 2‐N, and with significant admixture of sporadic cases in both samples. (4) Complex segregation analysis under the mixed model was performed on Samples 2‐MG and 2‐N, In sample 2‐MG, results were consistent with either the general mixed model or with an hypothesis of no major gene. In Sample 2‐N, four hypotheses were equally likely: the mixed model with no polygenic component, the mixed model with the major gene component, the mixed model with no sib environmental correlation, and major gene alone.Three conclusions may be drawn: (1) The data provide no support for the MF/T model. (2) The data are consistent with the possibility of a major gene in a portion of the kindreds. (3) The data provide evidenc

ISSN:0148-7299    

DOI:10.1002/ajmg.1320190104

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

年代:1984

数据来源: WILEY

摘要:

AbstractInterest in Rendu‐Osler‐Weber (ROW) syndrome has been renewed because of new treatment for the pulmonary artery fistulae that occur in approximately one‐half of the patients. Pulmonary arteriovenous malformations (AVM) can be occluded safely by the transvenous placement of a silicone balloon thus avoiding the many potential complications of thoracotomy. Thirty‐three members of four generations of a family with ROW illustrate the varied manifestations of the syndrome and provide a basis for review of clinical findings and therapeutic approaches to the management of pulmonary AVMs during the last 25 years. Special attention is given to early detection and prevention of major complications. Since ROW syndrome is an inherited trait, informed genetic counseling is an important component of the overall management of families with this d

ISSN:0148-7299    

DOI:10.1002/ajmg.1320190105

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

年代:1984

数据来源: WILEY

摘要:

AbstractWe present three live‐born infants with tetraploidy and compare them with two previously reported live‐born infants with the same genetic defect. Common anomalies noted included microcephaly; a prominent, narrow forehead; microphthalmia/anophthalmia; cleft palate; orthopedic anomalies; genital ambiguity; and abnormalities of the central nervous system, including pituitary hypoplasia. Together these constitute a rather characteristic phenotype. An error in cytoplasmic cleavage is theorized to be a mechanism for the chromosome anomaly and is supported by the presence of parental polymorphisms in one of our cases; however, the presence of a small percentage of tetraploid cells in the leukocytes and skin fibroblasts of this patien's mother does not exclude maternal mosaicism as the basis for polyploidy in certain instan

ISSN:0148-7299    

DOI:10.1002/ajmg.1320190106

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

年代:1984

数据来源: WILEY

摘要:

AbstractThe degree of anemia in β°‐thalassemia/hemoglobin E disease is highly variable. As part of an attempt to identify determinants of this variability of severity we studied concordance and discordance of hemoglobin levels among sib pairs. The distribution of differences of hemoglobin levels in 216 sib pairs from 98 families showed a remarkable skewness toward the lower values with a mode at 0‐0.5 gm/dl. The prevailing concordance of hemoglobin levels in patients from the same families and the persistence of the patterns indicate that polygenic factors are mainly responsible for the variability of anemia in this di

ISSN:0148-7299    

DOI:10.1002/ajmg.1320190107

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

年代:1984

数据来源: WILEY

摘要:

AbstractThis paper reports the results of a study of families in the Eastern Ontario/Western Quebec region who had a child born with a neural tube defect during the years 1969–1981. As in several other geographic areas, the prevalence of neural tube defects at birth has fallen from previous levels. However, there was no evidence of further decline during the period of study. Socioeconomic and ethnic influences were noted, but there was no evidence of seasonal variation or any correlation with maternal age or parity. There was support for a causative role of maternal fever in some cases. The rates of miscarriage varied between pregnancies before and those after the proband, and there was an excess of males born prior to the proband. Family studies showed a 2.4% risk for sibs born after the proband and an excess of affected relatives on the maternal side. Knowledge of rates of occurrence in relatives is useful for counseling and the interpretation of the results of alpha‐fetoprotein screen

ISSN:0148-7299    

DOI:10.1002/ajmg.1320190108

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

年代:1984

数据来源: WILEY

摘要:

AbstractEquilibrium frequencies of rare deleterious genes in an age‐structured population have been studied by using mathematical models. In the models, variable age‐of‐onset and variable penetrance of a trait have been incorporated. Numerical analyses show that the equilibrium gene frequencies can be approximated extremely well to those in nonoverlapping generations, as Haldane [1927] claimed. This property of rare deleterious genes in an age‐structured population is important because population dynamics of such genes in a finite population can be studied

ISSN:0148-7299    

DOI:10.1002/ajmg.1320190109

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

年代:1984

数据来源: WILEY

摘要:

AbstractWe report on four patients with tricho‐rhino‐phalangeal syndrome with exostoses (TRPSE) who were not mentally retarded and review 32 previously published cases. These data enable more complete delination of the phenotype and document the variability of the clinical and radiographic manifestations. Information on the genetics and the association with del(8q) is discussed, as are management and avenues for further investigation. The apparent variability of intelligence in TRPSE patients together with the high incidence of other problems, including significant delay in speech development and hearing loss, make systematic multidisciplinary evaluation and long‐term treatment necessary to achieve the best ou

ISSN:0148-7299    

DOI:10.1002/ajmg.1320190110

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

年代:1984

数据来源: WILEY

摘要:

AbstractCritical cytogenetic (re)evaluation of 2 of our own cases of tricho‐rhino‐phalangeal syndrome II (TRP II), or Langer‐Giedion syndrome (LGS), and 10 cases from the literature, suggests that the shortest region of overlap of the 8q deletion is a part of band q24. 1. This region is assumed to be causally related to this syndrome, and possibly also to TRP I syndrome which, therefore, may not be a causally separate e

ISSN:0148-7299    

DOI:10.1002/ajmg.1320190111

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

年代:1984

数据来源: WILEY