摘要:

AbstractWe report on a family with transmission of a ring chromosome 14 from an affected mother to her 2 sons. The mother was mosaic, 46,XX,r(14)/45,XX,t(14q21q). Both of her sons, affected by seizures and mental retardation, have the karyotype 46,XY,r(14). In considering the association of translocation 14:21 in the mother with ring 14, we postulate that either the ring chromosome was formed first and then opened with translocation of the partially deleted chromosome 14 to chromosome 21, or the 14:21 translocation was present first, then the chromosomes 14 and 21 broke apart, and the partially deleted 14 formed the ring. The published literature of cases of ring 14 is reviewed.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320360402

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

年代:1990

数据来源: WILEY

摘要:

AbstractAn unique inherited skeletal disorder had been identified in 47 patients in 6 generations of an Afrikaner family in Southern Africa. Pain develops in the hip joints in early childhood in the majority of affected persons and the course is progressive with severe crippling by early adulthood. General health is good, height is not significantly reduced, and there is no extra‐skeletal involvement. The major changes are in the femoral capital epiphyses, which are severely flattened and irregular; secondary osteoarthrosis develops at an early age.Pedigree data indicate autosomal dominant inheritance with a reasonably consistent phenotypic expression. In view of the fact that only members of the Beukes family have been identified as suffering from the condition, the designation “Beukes familial hip dysplasia” (BFHD) is pro

ISSN:0148-7299    

DOI:10.1002/ajmg.1320360403

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

年代:1990

数据来源: WILEY

摘要:

AbstractWe report on a case of 46,XY/46,XY,r(19) mosaicism. The patient shows minimal clinical abnormality and the terminal deletions prerequisite for the ring formation are not microscopically discernible. The origin of the mosaicism is discussed. Firstly, the mosaicism may represent chimerism with a prezygotic origin of the ring chromosome; secondly, the ring chromosome could have arisen postzygotically; and thirdly, the ring could have been of a prezygotic origin with the apparently normal cells actually containing reopened rings. The consequences of these hypothesis on genetic counselling are discussed.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320360404

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

年代:1990

数据来源: WILEY

摘要:

AbstractMales with a Yq deletion are well described, but few have been studied with both cytogenetic and molecular techniques to define the deletion and relate it to the phenotype. This study reports an analysis of cells obtained from a college student with azoospermia, short stature, and a small penis. Cytogenetic analysis indicated that the entire Yq was deleted, but DNA hybridization showed that a portion of Yq12 remained. We conclude that the deletion is interstitial.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320360405

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

年代:1990

数据来源: WILEY

摘要:

AbstractA brother and sister with Tel Hashomer camptodactyly and mitral valve prolapse are described. Mitral valve prolapse is heterogenous, but appears to occur more frequently in individuals with connective tissue disorders. The presence of mitral valve prolapse as a component manifestation of Tel Hashomer camptodactyly suggests that abnormal connective tissue is a pleiotropic effect of the mutant allele.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320360406

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

年代:1990

数据来源: WILEY

摘要:

AbstractA short‐limb skeletal dysplasia was diagnosed prenatally at 35 weeks of gestation. After birth the infant was found to have hypochondroplasia. The parents are of average stature, and the child's disorder presumably occurred as a fresh mutation. This appears to be the first reported case of hypochondroplasia diagnosed prenatally as a “non‐specific skeletal dysplasia” in the absence of a family history. Evaluation after birth showed that the infant, whose parents are of normal stature, has hypochondr

ISSN:0148-7299    

DOI:10.1002/ajmg.1320360407

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

年代:1990

数据来源: WILEY

摘要:

AbstractFanconi anemia (FA) has rarely been reported in black children either in the United States or Africa. This report describes 25 black African children with FA seen in Johannesburg over an 11‐year period. The prevalence of homozygotes was estimated to be 1:476,000. Clinical manifestations, mean age at diagnosis, and hematologic and chromosome abnormalities were similar to those described in other ethnic groups. Response to androgens was poor and most patients required regular transfusions. Seventeen (68%) of the children died during the 11‐year observation period. Leukemia was the terminal event in 2 patients. The mean age at death was 9.8 years and the mean time between diagnosis and death 2.3 years. The poor response to androgens, high mortality, and early mean age at death would favor consideration of early bone marrow transplantation in these child

ISSN:0148-7299    

DOI:10.1002/ajmg.1320360408

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

年代:1990

数据来源: WILEY

摘要:

AbstractMaternal and paternal age and birth order of 14 sporadic cases of the autosomal dominant blepharophimosis‐ptosis–epicanthus inversus–telecanthus (BPEI) phenotype were compared to similar statistics from control individuals. Correlation coefficients were determined for paternal age and incidence, maternal age and incidence, and birth order and incidence. The partial correlation coefficient of the father's age and incidence with maternal age and birth order held constant was −0.02 and that for the mother's age and incidence with paternal age and birth order held constant was 0.57. Maternal age seems to have a stronger influence than the paternal age in this group of BPEI p

ISSN:0148-7299    

DOI:10.1002/ajmg.1320360409

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

年代:1990

数据来源: WILEY

摘要:

AbstractBlood serotonin and tryptophan levels were studied in 1,440 individuals. These included patients with Tourette syndrome (TS), attention deficit hyperactivity disorder (ADHA), or ADHD with a family history of TS (ADHD 2° TS); relatives (parents, sibs) of these patients; other patients with TS‐like disorders; and controls.There were significant decreases in the serotonin/platelet ratio (P= 0.0001) and in tryptophan (P<0.0001) in unmedicated patients with TS. Parents of TS patients showed a comparable, significant decrease in serotonin/platelet ratio (P<0.0001) and in tryptophan (P<0.0001), and there was no difference between parents with and without symptoms. This suggested that these were trait markers for theGtsgene and agrees with the proposal that TS patients are homozygous forGtsgene and that both parents areGtsgene carriers.Although there was no decrease in the serotonin/platelet ratio in ADHD patients, tryptophan levels were significantly decreased and there was a significant decrease in both the serotonin/platelet ratio and in tryptophan in the parents of patients with ADHD including those without a family history of TS. This is consistent with a close link between TS and ADHD. The basic defect may be adysregulationof serotonin metabolism.The low blood serotonin and tryptophan levels in TS are consistent with the wide range of behavioral disorders seen in TS and suggest tryptophan oxygenase as a possible candidate ge

ISSN:0148-7299    

DOI:10.1002/ajmg.1320360410

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

年代:1990

数据来源: WILEY

摘要:

AbstractWe report on 2 brothers with Hutchinson‐Gil‐ford progeria. These patients have 2 unusual findings, i.e., marked resorption of the mandible along with loss of teeth in the elder sib and prolonged survival. Both sibs are still alive and active at the age of 32 and 24 ye

ISSN:0148-7299    

DOI:10.1002/ajmg.1320360411

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

年代:1990

数据来源: WILEY