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American Journal of Medical Genetics最新文献

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Phenotypic features in a boy with monosomy 18 mosaicism. 1例单体18嵌合男孩的表型特征。
American Journal of Medical Genetics Pub Date : 2000-11-27
K E Jackson, F Tsien, M Marble
{"title":"Phenotypic features in a boy with monosomy 18 mosaicism.","authors":"K E Jackson,&nbsp;F Tsien,&nbsp;M Marble","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>We report on a patient with mosaicism for monosomy 18, a chromosomal abnormality that has been reported only once previously. The patient had cleft lip and palate and mild behavioral and academic problems. His phenotype was milder in comparison with the previously reported patient by Khalifa et al. [1996: Clin Genet 49:318-320]. Further case reports of this chromosomal anomaly will be needed to determine a consistent phenotypic pattern to assist in management and genetic counseling.</p>","PeriodicalId":7708,"journal":{"name":"American Journal of Medical Genetics","volume":"95 3","pages":"229-32"},"PeriodicalIF":0.0,"publicationDate":"2000-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21927637","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}
引用次数: 0
Familial choanal atresia with maxillary hypoplasia, prognathism, and hypodontia. 家族性后肛门闭锁伴上颌发育不全、前突和下颌畸形。
American Journal of Medical Genetics Pub Date : 2000-11-27
M A Ramos-Arroyo, A Valiente, E Rodriguez-Toral, A M Alonso, S Moreno, D D Weaver
{"title":"Familial choanal atresia with maxillary hypoplasia, prognathism, and hypodontia.","authors":"M A Ramos-Arroyo,&nbsp;A Valiente,&nbsp;E Rodriguez-Toral,&nbsp;A M Alonso,&nbsp;S Moreno,&nbsp;D D Weaver","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>We report on two sibs and a cousin with bilateral choanal atresia. At 2 months, one sib died of complications following surgical correction of her defects. We evaluated her brother and cousin at age 7 and 9 years, respectively. Both had a tall forehead, maxillary hypoplasia, prognathism, and absence of certain deciduous and permanent teeth. Psychomotor development was appropriate for age. Roentgenocephalometric analyses of several relatives showed that one grandfather of these children and two of the five uncles and aunts also had maxillary hypoplasia and/or prognathism. To our knowledge, this condition has not been described previously and may represent a newly recognized autosomal dominant condition with incomplete penetrance and variable expressivity caused by a defect of neural crest development.</p>","PeriodicalId":7708,"journal":{"name":"American Journal of Medical Genetics","volume":"95 3","pages":"237-40"},"PeriodicalIF":0.0,"publicationDate":"2000-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21927639","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}
引用次数: 0
Oto-palato-digital syndrome, type II: report of three cases with further delineation of the chondro-osseous morphology. 耳-腭-指综合征，II型:报告3例进一步划定的软骨-骨形态。
American Journal of Medical Genetics Pub Date : 2000-11-27
R Savarirayan, V Cormier-Daire, S Unger, R S Lachman, P J Roughley, S F Wagner, D L Rimoin, W R Wilcox
{"title":"Oto-palato-digital syndrome, type II: report of three cases with further delineation of the chondro-osseous morphology.","authors":"R Savarirayan,&nbsp;V Cormier-Daire,&nbsp;S Unger,&nbsp;R S Lachman,&nbsp;P J Roughley,&nbsp;S F Wagner,&nbsp;D L Rimoin,&nbsp;W R Wilcox","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Oto-palato-digital syndrome type II (OPD II) is a lethal X-linked skeletal dysplasia with pleiotropic manifestations. The basic defect is not known. There has been only one detailed report of the chondro-osseous abnormalities in this condition describing abnormal periosteal ossification in a single case [1990: Am J Med Genet 36:226-231]. We report on three cases of OPD II emphasizing the chondro-osseous morphology. Although endochondral ossification was normal, periosteal ossification was defective with islands of cortical bone aplasia and hyperplasia of the periosteum. The trabecular bone was also extremely poorly formed and markedly hypercellular. Both membranous ossification and bone remodeling appear to be defective in OPD II and should account for part of the observed phenotype. The biglycan gene maps to Xq28 and is involved in bone formation, but was excluded as a candidate by direct sequencing of cDNA in one case.</p>","PeriodicalId":7708,"journal":{"name":"American Journal of Medical Genetics","volume":"95 3","pages":"193-200"},"PeriodicalIF":0.0,"publicationDate":"2000-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21926436","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}
引用次数: 0
Lack of sex-ratio distortion in neurofibromatosis 2. 神经纤维瘤病缺乏性别比例畸变2。
American Journal of Medical Genetics Pub Date : 2000-11-27
M E Baser, D G Evans
{"title":"Lack of sex-ratio distortion in neurofibromatosis 2.","authors":"M E Baser,&nbsp;D G Evans","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":7708,"journal":{"name":"American Journal of Medical Genetics","volume":"95 3","pages":"292"},"PeriodicalIF":0.0,"publicationDate":"2000-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21928255","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}
引用次数: 0
Herrmann multiple synostosis syndrome with neurological complications caused by spinal canal stenosis. 椎管狭窄引起的Herrmann多发性关节闭锁综合征伴神经系统并发症。
American Journal of Medical Genetics Pub Date : 2000-11-13
M J Edwards, L Rowe, V Petroff
{"title":"Herrmann multiple synostosis syndrome with neurological complications caused by spinal canal stenosis.","authors":"M J Edwards,&nbsp;L Rowe,&nbsp;V Petroff","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>A young man was found to have multiple synostosis syndrome type I after presenting with a neck injury causing a cervical spinal cord contusion. Neurological symptoms and signs suggested spinal cord compression. Magnetic resonance (MR) and computerized tomography (CT) imaging of the spine showed spinal canal stenosis with cord compression at C3-C6, a deformed spinal canal flattened in the anteroposterior dimension, vertebral fusions and deformed lateral processes of the vertebrae. He had a long broad nose with hypoplasia of the alae nasi, conductive hearing loss requiring hearing aids, muscular build, stiff spine, prominent acromia, pectus excavatum, ischial prominences, short fifth fingers, fusion at the proximal interphalangeal joints of the fifth fingers with indistinct overlying creases, and toe syndactyly. Spinal cord stenosis is a serious complication of multiple synostosis syndrome, that should be kept in mind in considering the risk of neck or back injury associated with certain sports or other activities. In both the multiple synostosis syndrome and the less severe proximal symphalangism deafness syndrome, mutations have been detected in the human homologue of the noggin gene on chromosome 17q21-q22.</p>","PeriodicalId":7708,"journal":{"name":"American Journal of Medical Genetics","volume":"95 2","pages":"118-22"},"PeriodicalIF":0.0,"publicationDate":"2000-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21904981","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}
引用次数: 0
Neurologic and gastrointestinal dysfunction in cardio-facio-cutaneous syndrome: identification of a severe phenotype. 心-面-皮综合征的神经和胃肠功能障碍:一种严重表型的鉴定。
American Journal of Medical Genetics Pub Date : 2000-11-13
T A Grebe, C Clericuzio
{"title":"Neurologic and gastrointestinal dysfunction in cardio-facio-cutaneous syndrome: identification of a severe phenotype.","authors":"T A Grebe,&nbsp;C Clericuzio","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Controversy exists over the distinction between cardio-facio-cutaneous (CFC) syndrome and Noonan syndrome (NS). Several authors have suggested that they are different phenotypes of the same condition. We present the cases of two patients with CFC syndrome to show that it is a distinct condition with a unique combination of findings and a more complex natural history. These patients, both girls, were born with signs of fetal edema following pregnancies complicated by polyhydramnios. Each has short stature with relative macrocephaly; fuzzy, sparse hair; and the typical craniofacial features, including a square forehead. Both have heart abnormalities, failure to thrive, and severe feeding problems requiring gastrostomy. They are markedly hypotonic and developmentally delayed. They show signs of frequent eyelid fluttering and have oral aversion, tactile hypersensitivity, and sensory integration abnormalities. Keratosis pilaris, the characteristic skin symptom, is also present in both patients. In a review we identified 56 cases of CFC syndrome. We scored these cases by 10 clinical criteria and identified a subset with a specific, severe phenotype distinct from that of NS. The serious neurologic and gastrointestinal complications, in addition to the skin abnormalities and characteristic facies in this group, clearly separate these patients from the mildly affected ones, most of whom appear to have NS or another syndrome. We discuss the differences between the severe CFC phenotype and those of overlapping conditions. We set forth stringent diagnostic criteria for CFC syndrome, the initial step toward identifying a molecular basis for this condition.</p>","PeriodicalId":7708,"journal":{"name":"American Journal of Medical Genetics","volume":"95 2","pages":"135-43"},"PeriodicalIF":0.0,"publicationDate":"2000-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21904272","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}
引用次数: 0
GOMBO syndrome: another "pseudorecessive" disorder due to a cryptic translocation. GOMBO综合征:另一种由隐性易位引起的“假隐性”疾病。
American Journal of Medical Genetics Pub Date : 2000-11-13
A Verloes, S Lesenfants, M Jamar, V Dideberg, C Herens
{"title":"GOMBO syndrome: another \"pseudorecessive\" disorder due to a cryptic translocation.","authors":"A Verloes,&nbsp;S Lesenfants,&nbsp;M Jamar,&nbsp;V Dideberg,&nbsp;C Herens","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":7708,"journal":{"name":"American Journal of Medical Genetics","volume":"95 2","pages":"185-6"},"PeriodicalIF":0.0,"publicationDate":"2000-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21903631","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}
引用次数: 0
Chromosome 7q22-q31 duplication: report of a new case and review. 染色体7q22-q31重复1例报告及复习。
American Journal of Medical Genetics Pub Date : 2000-11-13
A Mégarbané, P Gosset, N Souraty, J M Lapierre, C Turleau, M Vekemans, J Loiselet, M Prieur
{"title":"Chromosome 7q22-q31 duplication: report of a new case and review.","authors":"A Mégarbané,&nbsp;P Gosset,&nbsp;N Souraty,&nbsp;J M Lapierre,&nbsp;C Turleau,&nbsp;M Vekemans,&nbsp;J Loiselet,&nbsp;M Prieur","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>We report on a girl with psychomotor retardation, growth retardation, microcephaly, frontal bossing, large ears, small nose, high arched and narrow palate, short neck, and generalized hirsutism. Cytogenetic analysis in addition to fluorescent in situ hybridization (FISH) and comparative genomic hybridization (CGH) showed the presence of a chromosome 7q22-->q31.3 duplication. Comparison with other reported cases shows some resemblance but insufficient to enable us to establish a definite syndrome with specific clinical manifestations. The importance in better analyzing further cases by new molecular cytogenetics techniques is raised.</p>","PeriodicalId":7708,"journal":{"name":"American Journal of Medical Genetics","volume":"95 2","pages":"164-8"},"PeriodicalIF":0.0,"publicationDate":"2000-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21904278","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}
引用次数: 0
Cognitive and behavioral profile of fragile X boys: correlations to molecular data. 脆性X染色体男孩的认知和行为特征:与分子数据的相关性。
American Journal of Medical Genetics Pub Date : 2000-11-13
M Backes, B Genç, J Schreck, W Doerfler, G Lehmkuhl, A von Gontard
{"title":"Cognitive and behavioral profile of fragile X boys: correlations to molecular data.","authors":"M Backes,&nbsp;B Genç,&nbsp;J Schreck,&nbsp;W Doerfler,&nbsp;G Lehmkuhl,&nbsp;A von Gontard","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Fragile X syndrome (FXS) is the most common form of inherited mental retardation after Down syndrome. The expansion of a CGG repeat, located in the 5'-untranslated region (5'-UTR) of the FMR1 (fragile X mental retardation) gene, leads to the hypermethylation of the repeat and the upstream CpG island. Methylation is associated with transcriptional silencing of the FMR1 gene. The lack of FMR1 protein is believed to be responsible for the typical physical and mental characteristics of the syndrome. To analyze the specific phenotype of that syndrome as well as possible associations between the phenotype and the genotype, we examined a group of 49 fragile X boys and a control group of 16 patients with tuberous sclerosis. To determine the cognitive and behavioral phenotype, the Kaufman Assessment Battery for Children (K-ABC), the Child Behavior Checklist (4/18), and a structured psychiatric interview (Kinder DIPS) were used. The genotype was analyzed by the Southern blot method. The phenotype of boys with FXS is characterized by a specific cognitive profile with strengths in acquired knowledge and in simultaneous processing. The psychiatric comorbidity is high and ADHD (attention deficit hyperactivity disorder), oppositional defiant disorder, enuresis, and encopresis predominate. In a group of 24 fragile X boys, no significant correlations between the specific aspects of the phenotype and the genotype were found.</p>","PeriodicalId":7708,"journal":{"name":"American Journal of Medical Genetics","volume":"95 2","pages":"150-6"},"PeriodicalIF":0.0,"publicationDate":"2000-11-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21904275","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}
引用次数: 0
Prenatal diagnosis of Smith-Lemli-Opitz syndrome by mutation analysis. 利用突变分析产前诊断Smith-Lemli-Opitz综合征。
American Journal of Medical Genetics Pub Date : 2000-11-06 DOI: 10.1002/1096-8628(20001106)95:1<85::aid-ajmg18>3.0.co;2-9
V Bzdúch, L Kozák, H Francová, D Behúlová
{"title":"Prenatal diagnosis of Smith-Lemli-Opitz syndrome by mutation analysis.","authors":"V Bzdúch,&nbsp;L Kozák,&nbsp;H Francová,&nbsp;D Behúlová","doi":"10.1002/1096-8628(20001106)95:1<85::aid-ajmg18>3.0.co;2-9","DOIUrl":"https://doi.org/10.1002/1096-8628(20001106)95:1<85::aid-ajmg18>3.0.co;2-9","url":null,"abstract":"","PeriodicalId":7708,"journal":{"name":"American Journal of Medical Genetics","volume":"95 1","pages":"85"},"PeriodicalIF":0.0,"publicationDate":"2000-11-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/1096-8628(20001106)95:1<85::aid-ajmg18>3.0.co;2-9","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21899889","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}
引用次数: 10
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