摘要:

AbstractWe report on 4 individuals with the fragile X [fra(X)] syndrome and the Robin sequence (or elements of that sequence). To our knowledge, this association has been described in only one other boy. However, males with the fra(X) syndrome have been reported to have an increased incidence of cleft palate. We recommend that children with a cleft palate or the Robin sequence be assessed for developmental delays and a family history of mental retardation. The fra(X) syndrome may be one of the genetic causes of the Robin sequence and, when indicated, children with the sequence should be tested for fra(X).

ISSN:0148-7299    

DOI:10.1002/ajmg.1320410302

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

年代:1991

数据来源: WILEY

摘要:

AbstractDuring the years 1975–1987, 1,364 cytogenetic studies were performed in 682 couples with history of adverse pregnancy outcome. Thirty‐six balanced translocations were detected, 24 (3.5%) in women and 12 (1.7%) in men. Before 1982, all 234 couples studied had 2 or more spontaneous abortions with unknown pedigrees, with an incidence of 6.8% of balanced translocations. During 1982–1987, complete pedigree analysis was performed on a subset of 448 couples, who were then classified into 3 groups. Group I; 321 couples with 2 or more spontaneous abortions, but no other adverse outcome; group II; 37 couples with at least one or more spontaneous abortions plus a malformed child or stillbirth; and group III; 90 couples with one or more spontaneous abortions plus a sib having at least a malformed child or repetitive spontaneous abortions. The incidence of balanced translocations in these 3 groups was 2.8%, 5.4%, and 10.0%, respectively. When group III was compared with group I, the frequency of translocations was significantly different (P<0.02).Robertsonian translocations were predominantly detected in women, raising the possibility that prezygotic failure producing primary sterility may occur in men with such transloca

ISSN:0148-7299    

DOI:10.1002/ajmg.1320410303

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

年代:1991

数据来源: WILEY

摘要:

AbstractWe report on a case of partial duplication 6q detected ultrasonographically. The clinical picture noted in utero is consistent with the adult phenotype previously reported in the literature.

ISSN:0148-7299    

DOI:10.1002/ajmg.1320410304

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

年代:1991

数据来源: WILEY

摘要:

AbstractWe present a family with findings of Ehlers‐Danlos syndrome type VIII and a presenile appearance due to decreased subcutaneous tissue with drawn skin, defective wound healing, contractures, and thin hair. To investigate this syndrome, we studied collagen production and the growth properties of cultured fibroblasts taken from affected relatives. We could not find evidence of a collagen defect or premature senescence of cultured fibroblasts, although the fibroblasts may have a decreased growth rate. We conclude that this family has findings of EDS VIII and premature aging and propose that this overlapping phenotype is due to a single pathogenetic mechanism. Our studies of collagen production and fibroblast replication did not discern this mechanis

ISSN:0148-7299    

DOI:10.1002/ajmg.1320410305

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

年代:1991

数据来源: WILEY

摘要:

AbstractFragile X [fraX] syndrome is a common hereditary disorder associated with a fragile site marker at Xq27.3 which clinically presents as a form of mental retardation (MR). Postmortem investigation of 3 fraX positive males with mild to moderate MR did not document any gross neuropathological changes. Golgi analysis of neocortical dendritic spine morphology extended our previous observations of immature, long, tortuous spines in one adult case of fraX (Rudelli, et al.,Acta Neuropathologica67:289–295, 1985) to 2 new cases. Evidence for similar dendritic spine abnormalities was found, although Golgi analysis was less than optimal because of incomplete dendritic stain impregnation. Neocortical intra‐layer cell density was also investigated in all 3 cases. Cresyl violet stained neurons were counted in 10 randomly selected fields in neocortical layers II–VI of cingulate and temporal association areas (Brodmann's areas 23 and 38). Neuron counts in fraX and control neocortex showed no significant differences. Thus, abnormal dendritic spine morphology with preservation of neuronal density appears to characterize the neocortex in individuals with this common form of mental retard

ISSN:0148-7299    

DOI:10.1002/ajmg.1320410306

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

年代:1991

数据来源: WILEY

摘要:

AbstractOne hundred and thirty‐six individuals with a family history of X‐linked adrenoleukodystrophy (ALD) or adrenomyeloneuropathy (AMN) were given a questionnaire surveying their sociodemographic characteristics, knowledge of X‐linked inheritance, and attitudes toward prenatal, presymptomatic, and carrier testing. Of the respondents, 68% indicated that they would use prenatal testing. Of these, 57.1% would terminate a pregnancy of a male fetus hemizygous for the ALD gene and 13.5% would reportedly choose to terminate a heterozygote female fetus. Presymptomatic testing would be used by 88.7% of respondents to test at‐risk sons and carrier testing would reportedly be used by 95.4% of respondents to test their at‐risk daughters. Respondents correctly answered an average of 61% of the questions testing understanding of X‐linked inheritance. This indicates a strong interest in prenatal, presymptomatic, and carrier testing and a need for genetic counselors to provide information about these available tests and X‐linke

ISSN:0148-7299    

DOI:10.1002/ajmg.1320410307

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

年代:1991

数据来源: WILEY

摘要:

AbstractLowe oculocerebrorenal syndrome is an X‐linked recessive disease whose locus has been assigned to Xp25. However, several reports of affected females without obvious chromosomal abnormalities suggest genetic heterogeneity of the Lowe phenotype. Although the biochemical defect in typical Lowe syndrome is not known, there is evidence suggesting that mitochondrial metabolism may be impaired. We have studied a girl who presented with an oculocerebrorenal syndrome, but later developed symptoms and signs of mitochondrial encephalomyopathy. Molecular genetic analysis of muscle mitochondrial DNA showed the presence of a population of partially deleted mtDNAs (heteroplasmy). The deletion was 7803 bp long and encompassed several genes encoding subunits of the respiratory chain enzymes. Our results suggest that mitochondrial DNA deletions may mimic several symptoms of the Lowe phenotype and reinforce the concept that a defect of mitochondrial metabolism could be involved in the pathogenesis of the X‐linked dise

ISSN:0148-7299    

DOI:10.1002/ajmg.1320410308

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

年代:1991

数据来源: WILEY

摘要:

AbstractDeafness occurs in about 1 per thousand live births, and at least 50% of congenital deafness is hereditary. The aim of this study was to examine the number of loci for recessively in herited severe nerve deafness of early onset within the Israeli population and to compare the results to those obtained in other populations. The Jewish population in Israel originates from many countries and may be divided into Sephardi, Eastern and Ashkenazi Jews, and the matings will be intraethnic or interethnic. Data were obtained on 133 deaf couples who lived in the Tel Aviv area, through the files of the Helen Keller Center. Causes of deafness in the spouses were studied and data on their children were obtained. Among 111 couples who had recessive or possibly recessive deafness and had at least 1 child, there were 12 with only deaf children and 5 with both deaf and hearing children. The number of loci for recessive deafness in the whole group was estimated at 8–9. Intraethnic and interethnic matings gave an estimate of 6.7 and 22.0 loci, respectively, which indicates that within populations fewer loci exist with recessive mutations for deafness than between populations. it could be shown that the sharing of loci between spouses decreased with increasing geographical distance of their origin. The results provide data for genetic counseling in Israel for deaf couples who have no children or have one hearing or one deaf chil

ISSN:0148-7299    

DOI:10.1002/ajmg.1320410309

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

年代:1991

数据来源: WILEY

摘要:

AbstractThe clinical manifestations and psychomotor development of five patients with mucolipidosis IV (MLIV) from three Ashkenazi‐Jewish families are reported. The presenting symptoms were hypotonia, developmental delay, corneal clouding, and puffy eyelids. Four of the patients had convergent strabismus and none progressed beyond a developmental age of 15 months. One patient died of aspiration at 17 years while the oldest patient entered puberty at 20 years, developed a coarse face at 30 years, and is now 32 years old. Histopathological studies in four patients showed storage changes characteristic of MLI

ISSN:0148-7299    

DOI:10.1002/ajmg.1320410310

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

年代:1991

数据来源: WILEY

摘要:

AbstractDirect two‐generation transmission of an unbalanced 18p + chromosome was discovered after amniocentesis. Neither the mother nor the child exhibited apparent physical malformations or mental impairment. Banding analysis suggested a complete 18p duplication. Molecular studies verified the 18p origin of the duplicated material. Only 14 previous cases of duplication 18p have been reported and these exhibited either a normal phenotype or mild and inconsistent abnormalities. The present cases, as well as the review of literature, indicate that duplication 18p is associated with few or inapparent phenotypic abnormalitie

ISSN:0148-7299    

DOI:10.1002/ajmg.1320410311

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

年代:1991

数据来源: WILEY