American Journal of Medical Genetics最新文献

{"title":"Unilateral macroorchidism in fragile X syndrome.","authors":"P Limprasert, S Jaruratanasirikul, P Vasiknanonte","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":7708,"journal":{"name":"American Journal of Medical Genetics","volume":"95 5","pages":"516-7"},"PeriodicalIF":0.0,"publicationDate":"2000-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21967863","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Microcephaly with chorioretinal dysplasia: characteristic facial features.","authors":"G M Abdel-Salam,&nbsp;A E Czeizel,&nbsp;G Vogt,&nbsp;L Imre","doi":"10.1002/1096-8628(20001218)95:5<513::aid-ajmg19>3.0.co;2-j","DOIUrl":"https://doi.org/10.1002/1096-8628(20001218)95:5<513::aid-ajmg19>3.0.co;2-j","url":null,"abstract":"","PeriodicalId":7708,"journal":{"name":"American Journal of Medical Genetics","volume":"95 5","pages":"513-5"},"PeriodicalIF":0.0,"publicationDate":"2000-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/1096-8628(20001218)95:5<513::aid-ajmg19>3.0.co;2-j","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21967862","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Growth until puberty after in utero exposure to coumarins.","authors":"D Van Driel,&nbsp;J Wesseling,&nbsp;F R Rosendaal,&nbsp;R J Odink,&nbsp;E Van der Veer,&nbsp;W J Gerver,&nbsp;L M Geven-Boere,&nbsp;P J Sauer","doi":"10.1002/1096-8628(20001218)95:5<438::aid-ajmg6>3.3.co;2-q","DOIUrl":"https://doi.org/10.1002/1096-8628(20001218)95:5<438::aid-ajmg6>3.3.co;2-q","url":null,"abstract":"<p><p>Anticoagulation with coumarins is an effective therapy during pregnancy. Fetal exposure to coumarin derivatives during the first trimester, however, is associated with skeletal anomalies (warfarin or coumarin embryopathy). Information about long-term effects of prenatal coumarin exposure on the skeletal development is not available. We investigated growth and body proportions at school age of children exposed to coumarins in utero. A blind population-based cohort study was conducted on 307 exposed children and 267 non-exposed controls ages 8-15 years. The exposed cohort was based on a prospective registry of coumarin-treated pregnant women. Anthropometric data included height, weight, head circumference, and measurements to evaluate body proportions. The mean height of exposed children did not differ from that of the non-exposed children (mean difference 0.01 SD). In addition, no differences were found for the proportional measures. As a group, children exposed in the first trimester showed no evidence of growth impairment. Two children in this group, however, were born with signs of coumarin embryopathy and one of these displayed a deficit in height at school age. Long-term growth was not affected by a high cumulative dosage or exposure after the first trimester. We conclude that, when exposure during the first trimester is avoided, coumarin therapy during pregnancy has no demonstrable risk for the child's skeletal development.</p>","PeriodicalId":7708,"journal":{"name":"American Journal of Medical Genetics","volume":"95 5","pages":"438-43"},"PeriodicalIF":0.0,"publicationDate":"2000-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21968599","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The contribution of uniparental disomy to congenital development defects in children born to mothers at advanced childbearing age.","authors":"C Ginsburg,&nbsp;S Fokstuen,&nbsp;A Schinzel","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Most instances of maternal uniparental disomy (UPD) start as trisomies and, similar to the latter, show a significant increase of mean maternal age at delivery. To investigate the incidence of UPD in offspring of older mothers, we investigated two groups of patients: 1) 50 patients with unclassified developmental defects born to mothers 35 years or older at delivery were tested for UPD for all autosomes by means of microsatellite marker analysis; 2) The incidence of UPD versus other etiologies in correlation, with maternal age below versus 35 years and above at delivery was studied in patients investigated in our laboratory for maternal UPD 15 (Prader-Willi syndrome, PWS), paternal UPD 15 (Angelman syndrome, AS), and maternal UPD 7 (Silver-Russell syndrome, SRS). In group 1, four patients of 50 showed UPD for an autosome that clarified the etiology of their developmental problems: a 27-year-old woman with growth retardation and early puberty disclosed maternal heterodisomy 14; a 15-year-old girl revealed paternal isodisomy 15; a 6-year-old boy with suspected Smith-Lemli-Opitz syndrome was shown to have maternal heterodisomy 16 with additional mosaic partial trisomy 16(pter-p13); a 16-month-old girl with intrauterine growth retardation and a dysmorphic pattern revealed maternal heterodisomy 7. In group 2 the offspring of older mothers showed a clear increase of UPD compared with the mothers below 35 years at delivery. The binomial distribution gave P-values of 1.9 x 10(-10), 2.6 x 10(-4), and 0.01 for PWS, AS, and SRS, respectively. The correlation between increase of paternal UPD 15 with advanced maternal age might be explained by maternal non-disjunction leading to hypohaploid gamete (nullisomy) for chromosome 15 with subsequent or concomitant duplication of the paternal homologue (paternal isodisomy). The three UPD 15 AS cases with mothers older than 35 years at delivery revealed isodisomy, whereas the three cases from younger mothers showed heterodisomy. This study confirms the hypothesis that uniparental disomy is a not negligible cause of congenital developmental anomalies in children of older mothers.</p>","PeriodicalId":7708,"journal":{"name":"American Journal of Medical Genetics","volume":"95 5","pages":"454-60"},"PeriodicalIF":0.0,"publicationDate":"2000-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21968602","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Autosomal dominant inheritance of scapuloiliac dysostosis.","authors":"D J Amor,&nbsp;R Savarirayan,&nbsp;A Bankier,&nbsp;F Jensen,&nbsp;S P Hauser","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":7708,"journal":{"name":"American Journal of Medical Genetics","volume":"95 5","pages":"507-9"},"PeriodicalIF":0.0,"publicationDate":"2000-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21967860","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Complex chromosome rearrangement in a girl with an incomplete form of Beckwith-Wiedemann syndrome.","authors":"A Zankl,&nbsp;M C Addor,&nbsp;A C Gaide,&nbsp;F Thonney,&nbsp;P Cousin,&nbsp;D F Schorderet,&nbsp;F Gudinchet,&nbsp;M Nenadov-Beck","doi":"10.1002/1096-8628(20001218)95:5<510::aid-ajmg18>3.0.co;2-v","DOIUrl":"https://doi.org/10.1002/1096-8628(20001218)95:5<510::aid-ajmg18>3.0.co;2-v","url":null,"abstract":"","PeriodicalId":7708,"journal":{"name":"American Journal of Medical Genetics","volume":"95 5","pages":"510-2"},"PeriodicalIF":0.0,"publicationDate":"2000-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/1096-8628(20001218)95:5<510::aid-ajmg18>3.0.co;2-v","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21967861","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Second stage of a genome scan of schizophrenia: study of five positive regions in an expanded sample.","authors":"B J Mowry,&nbsp;K R Ewen,&nbsp;D J Nancarrow,&nbsp;D P Lennon,&nbsp;D A Nertney,&nbsp;H L Jones,&nbsp;M S O'Brien,&nbsp;C E Thornley,&nbsp;M K Walters,&nbsp;R R Crowe,&nbsp;J M Silverman,&nbsp;J Endicott,&nbsp;L Sharpe,&nbsp;N K Hayward,&nbsp;M M Gladis,&nbsp;S J Foote,&nbsp;D F Levinson","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>In a previous genome scan of 43 schizophrenia pedigrees, nonparametric linkage (NPL) scores with empirically derived pointwise P-values less than 0.01 were observed in two regions (chromosomes 2q12-13 and 10q23) and less than 0.05 in three regions (4q22-23, 9q22, and 11q21). Markers with a mean spacing of about 5 cM were typed in these regions in an expanded sample of 71 pedigrees, and NPL analyses carried out. No region produced significant genomewide evidence for linkage. On chromosome 10q, the empirical P-value remained at less than 0.01 for the entire sample (D10S168), evidence in the original 43 pedigrees was slightly increased, and a broad peak of positive results was observed. P-values less than 0.05 were observed on chromosomes 2q (D2S436) and 4q (D4S2623), but not on chromosomes 9q or 11q. It is concluded that this sample is most supportive of linkage on chromosome 10q, with less consistent support on chromosomes 2q and 4q. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:864-869, 2000.</p>","PeriodicalId":7708,"journal":{"name":"American Journal of Medical Genetics","volume":"96 6","pages":"864-9"},"PeriodicalIF":0.0,"publicationDate":"2000-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21943026","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Systematic screening of the 14-3-3 eta (eta) chain gene for polymorphic variants and case-control analysis in schizophrenia.","authors":"R Bell,&nbsp;J Munro,&nbsp;C Russ,&nbsp;J F Powell,&nbsp;A Bruinvels,&nbsp;R W Kerwin,&nbsp;D A Collier","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The neuronal protein 14-3-3 eta is a candidate gene for schizophrenia because it maps chromosome 22q12, a region implicated in the disease by linkage analysis, and is involved in brain development. We systematically screened this gene for polymorphic variants by comparison of public EST sequence data (five cDNAs and 72 ESTs, 21,155 bp of sequence) in parallel with single-stranded conformational polymorphism analysis, and we compared these methods by using a simple power calculation. Twelve potential polymorphisms were identified from EST sequence comparison, and two of these (a 5'-VNTR and 753G/A) were confirmed by SSCP analysis and sequencing. Three additional infrequent polymorphisms (-408T/G; 177 C/G; and 989 A/G) were found by SSCP only. We next examined these variants for association with schizophrenia. One variant in untranslated region of exon 1 (-408 T/G) was found to occur more frequently in the schizophrenic subjects (8%) than the controls (3%; P = 0.01). After fivefold correction of the P value for multiple testing, marginal association was found. Haplotype analysis of pairs of polymorphisms provided no evidence for association of this gene with schizophrenia in the population studied. Am. J. Med. Genet. (Neuropsychiatr. Genet. ) 96:736-743, 2000.</p>","PeriodicalId":7708,"journal":{"name":"American Journal of Medical Genetics","volume":"96 6","pages":"736-43"},"PeriodicalIF":0.0,"publicationDate":"2000-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21943366","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association between a functional polymorphism in the monoamine oxidase A gene promoter and major depressive disorder.","authors":"T G Schulze,&nbsp;D J Müller,&nbsp;H Krauss,&nbsp;H Scherk,&nbsp;S Ohlraun,&nbsp;Y V Syagailo,&nbsp;C Windemuth,&nbsp;H Neidt,&nbsp;M Grässle,&nbsp;A Papassotiropoulos,&nbsp;R Heun,&nbsp;M M Nöthen,&nbsp;W Maier,&nbsp;K P Lesch,&nbsp;M Rietschel","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Various polymorphisms of the X-chromosomal monoamine oxidase A (MAO-A) gene were investigated for association with affective disorders. However, none of the studied variants could consistently be associated with either major depressive or bipolar affective disorder. Recently, a positive association between panic disorder and a novel functional repeat polymorphism in the MAO-A gene promoter, with the longer alleles being more active, was reported. Since monoaminergic neurotransmission is supposed to play an important role in affective disorders, we investigated a potential association of this polymorphism with major depressive illness in a sample of 146 unrelated patients of German descent and a control group of 101 individuals with a negative life history for affective disorders. Similarly to the recent findings in panic disorder, we observed a significantly increased frequency of genotypes containing only long alleles in female patients with recurrent major depression in comparison with age- and sex-matched controls. Thus, our data suggest that an excess of high-activity MAO-A gene promoter alleles resulting in an elevated MAO-A activity is a risk factor for major depressive disorder in females. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:801-803, 2000.</p>","PeriodicalId":7708,"journal":{"name":"American Journal of Medical Genetics","volume":"96 6","pages":"801-3"},"PeriodicalIF":0.0,"publicationDate":"2000-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21945168","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Detection of expansion regions in Portuguese bipolar families.","authors":"C N Pato,&nbsp;A Macedo,&nbsp;A Ambrosio,&nbsp;J B Vincent,&nbsp;A Bauer,&nbsp;K Schindler,&nbsp;J Xu,&nbsp;I Coelho,&nbsp;A Dourado,&nbsp;J Valente,&nbsp;M H Azevedo,&nbsp;J L Kennedy,&nbsp;M T Pato","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>We have studied 24 families with multiple affected members with bipolar disorder to test the hypothesis that in those families clinically showing genetic anticipation [Macedo et al., 1999] we would find large repeat expansions. The families meeting inclusion criteria had a minimum of two affected members over two generations and showed marked anticipation both in terms of age of onset and disease severity. We used the repeat expansion detection (RED) method to test patients (n = 24) and controls from these families and unrelated controls (n = 53). We also genotyped patients and family members from two families with large expansions at the known expansion loci on chromosomes 13, 17, and 18. The RED method revealed a higher number of large expansions in patients compared with controls (t-test; P < 0.0055: Mann-Whitney U; P = 0.02). The patients with the largest expansions were typed at the specific loci on chromosomes 13, 17, and 18 and the chromosome 18 expansion locus segregated with disease in one family, and a second family showed segregation with the expansion located at the SCA8 locus on chromosome 13. Genetic anticipation had been analyzed in this cohort of families, with correction for potential ascertainment bias, possible proband effects, cohort effects, regression to the mean, gender effects, and maternal vs. paternal transmission. None of these potential confounds appeared to account for the observed anticipation. We also identified that the presence of large expansions in affected family members derives primarily from two families from the genetically isolated Azores population. One family shows segregation with the chromosome 18 locus, whereas the other family segregates with expansions at the SCA8 locus. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:854-857, 2000.</p>","PeriodicalId":7708,"journal":{"name":"American Journal of Medical Genetics","volume":"96 6","pages":"854-7"},"PeriodicalIF":0.0,"publicationDate":"2000-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21944438","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}