American Journal of Medical Genetics最新文献_第7页

Syndrome of gingival hypertrophy, hirsutism, mental retardation and brachymetacarpia in two sisters: specific entity or variant of a described condition? 两姐妹的牙龈肥大、多毛、智力迟钝和手掌短促综合征:特定的实体还是所描述疾病的变体?

American Journal of Medical Genetics Pub Date : 2000-11-27

G Göhlich-Ratmann, A Lackner, J Schaper, T Voit, G Gillessen-Kaesbach

引用次数: 0

Transmission of the dysgnathia complex from mother to daughter. 发音困难综合症从母亲传给女儿。

American Journal of Medical Genetics Pub Date : 2000-11-27

M S Erlich, M L Cunningham, L Hudgins

{"title":"Transmission of the dysgnathia complex from mother to daughter.","authors":"M S Erlich, M L Cunningham, L Hudgins","doi":"","DOIUrl":"","url":null,"abstract":"We report the first observation of parent-to-child transmission of dysgnathia, a rare disorder characterized by severe mandibular hypoplasia or agenesis, ear anomalies, microstomia, and microglossia. Patient 1 was noted prenatally by ultrasound to have severe micrognathia and, after birth, abnormal ears with canal stenosis and non-contiguous lobules located dorsally to the rest of the pinnae, normal zygomata, severe jaw immobility and microstomia with an opening of only 4 to 5 mm, hypoplastic tongue, and cleft palate. The 21-year-old mother of patient 1 was born with severe micrognathia requiring tracheostomy, microglossia, cleft palate with filiform alveolar bands, abnormal pinnae, and decreased conductive hearing. Dysgnathia is thought to result from a defect in the development of the first branchial arch. A similar phenotype has been seen in Otx2 haplo-insufficiency and endothelin-1 homozygous null mice, suggesting that these genes contribute to branchial arch development. Our report of a long-surviving mother and her daughter with non-syndromal dysgnathia may lead to identification of the molecular basis of these findings and provide insight into the genetics of first branchial arch formation. The survival of patient 1 and patient 2 beyond the neonatal period has implications for improvements in prenatal diagnosis and counseling and for neonatal treatment of this condition.","PeriodicalId":7708,"journal":{"name":"American Journal of Medical Genetics","volume":"95 3","pages":"269-74"},"PeriodicalIF":0.0,"publicationDate":"2000-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21927643","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

Malpuech syndrome: a possible relationship with the Wolf-Hirschhorn/Pitt-Roger-Danks phenotype. Malpuech综合征:与Wolf-Hirschhorn/Pitt-Roger-Danks表型的可能关系

American Journal of Medical Genetics Pub Date : 2000-11-27

A Selicorni, F Faravelli

引用次数: 0

Unbalanced 4;6 translocation and progressive renal disease. 不平衡4;6易位和进行性肾脏疾病。

American Journal of Medical Genetics Pub Date : 2000-11-27

M E Pierpont, A S Hentges, L J Gears, B Hirsch, A Sinaiko

引用次数: 0

Clinical heterogeneity in mitochondrial DNA deletion disorders: a diagnostic challenge of Pearson syndrome. 线粒体DNA缺失疾病的临床异质性:皮尔逊综合征的诊断挑战。

American Journal of Medical Genetics Pub Date : 2000-11-27

F Lacbawan, C J Tifft, N L Luban, S M Schmandt, M Guerrera, S Weinstein, M Pennybacker, L J Wong

{"title":"Clinical heterogeneity in mitochondrial DNA deletion disorders: a diagnostic challenge of Pearson syndrome.","authors":"F Lacbawan, C J Tifft, N L Luban, S M Schmandt, M Guerrera, S Weinstein, M Pennybacker, L J Wong","doi":"","DOIUrl":"","url":null,"abstract":"The clinical presentation of mitochondrial DNA (mtDNA) disorders is quite diverse. Very often, the initial symptoms do not fit a specific disease, and diagnosis is difficult to make. We describe a patient who presented with macrocytic anemia. Extensive biochemical and clinical work-up failed to provide an etiology for the macrocytic anemia. The patient over the course of 6 years developed gait problems, exercise intolerance, episodic vomiting, short stature, dermatological problems, and recurrent infection. At age 8 years she had encephalopathy with ataxia and dysphagia. The presence of elevated lactate, bilateral basal ganglia calcification, and ragged red fibers led to mtDNA mutational analysis. A novel 4.4-kb deletion from nucleotide position 10,560 to nucleotide position 14, 980 was identified in muscle biopsy. The same heteroplasmic mtDNA deletion was present in blood, buccal cells, and hair follicles, but not in mother's blood, consistent with sporadic mutation in the patient. This case emphasizes the importance of considering mtDNA disorder in patients with multisystemic symptoms that cannot be explained by a specific diagnosis.","PeriodicalId":7708,"journal":{"name":"American Journal of Medical Genetics","volume":"95 3","pages":"266-8"},"PeriodicalIF":0.0,"publicationDate":"2000-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21927642","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

Partial deletion of chromosome 12q is not usually associated with CFC syndrome. 12q染色体部分缺失通常与CFC综合征无关。

American Journal of Medical Genetics Pub Date : 2000-11-27

M Zollino, G Neri

引用次数: 0

Variable presentation of Rothmund-Thomson syndrome. 罗斯蒙-汤姆森综合征的可变表现。

American Journal of Medical Genetics Pub Date : 2000-11-27

L A Pujol, R P Erickson, R A Heidenreich, C Cunniff

引用次数: 0

Phenotypic overlap of McKusick-Kaufman syndrome with bardet-biedl syndrome: a literature review. McKusick-Kaufman综合征与bardet-biedl综合征表型重叠的文献综述。

American Journal of Medical Genetics Pub Date : 2000-11-27

A M Slavotinek, L G Biesecker

引用次数: 0

Plasma levels of amyloid beta 40 and 42 are independent from ApoE genotype and mental retardation in Down syndrome. 淀粉样蛋白β 40和β 42的血浆水平与ApoE基因型和唐氏综合征的智力迟钝无关。

American Journal of Medical Genetics Pub Date : 2000-11-27

S Cavani, A Tamaoka, A Moretti, L Marinelli, G Angelini, S Di Stefano, G Piombo, V Cazzulo, S Matsuno, S Shoji, Y Furiya, D Zaccheo, F Dagna-Bricarelli, M Tabaton, H Mori

{"title":"Plasma levels of amyloid beta 40 and 42 are independent from ApoE genotype and mental retardation in Down syndrome.","authors":"S Cavani, A Tamaoka, A Moretti, L Marinelli, G Angelini, S Di Stefano, G Piombo, V Cazzulo, S Matsuno, S Shoji, Y Furiya, D Zaccheo, F Dagna-Bricarelli, M Tabaton, H Mori","doi":"","DOIUrl":"","url":null,"abstract":"In Down syndrome (DS) brain an early, selective accumulation of amyloid beta (Abeta) peptides ending at residue 42 (Abeta42) occurs. Whether this event depends on an altered processing of amyloid beta precursor protein (APP) or on defective clearance is uncertain. To investigate this issue, we measured Abeta species 40 and 42 in plasma from 61 patients with DS, 77 age-matched normal controls, and 55 mentally retarded subjects without chromosomal abnormalities. The Abeta 40 and 42 plasma levels were then correlated with apolipoprotein E (apoE) genotypes in all groups of cases, and with I. Q. and Mini Mental Status Examination values in DS subjects. Both Abeta species were significantly elevated in DS compared to control groups, and the extent of their increase reflects that expected from APP gene overexpression. Plasma levels of Abeta 40 and 42 did not correlate with apoE genotypes in DS and control cases, and with the extent of mental retardation in DS subjects. The results indicate that accumulation and clearance of plasma and cerebral Abeta are regulated by different and independent factors.","PeriodicalId":7708,"journal":{"name":"American Journal of Medical Genetics","volume":"95 3","pages":"224-8"},"PeriodicalIF":0.0,"publicationDate":"2000-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21927636","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

Blaschkolinear skin pigmentary variation due to trisomy 7 mosaicism. 由7号三体嵌合引起的皮肤色素的blaschkollinear变异。

American Journal of Medical Genetics Pub Date : 2000-11-27

M Kayser, L B Henderson, J Kreutzman, R Schreck, J M Graham

{"title":"Blaschkolinear skin pigmentary variation due to trisomy 7 mosaicism.","authors":"M Kayser, L B Henderson, J Kreutzman, R Schreck, J M Graham","doi":"","DOIUrl":"","url":null,"abstract":"Mosaic trisomy 7 is a rare condition that can be seen in individuals with Blaschkolinear skin pigmentary variation, somatic asymmetry, and variable other clinical anomalies. In any patient presenting with Blaschkolinear skin pigmentary variation, varying degrees of asymmetrical growth disturbance, developmental delay, and a normal lymphocytic karyotype, chromosomal mosaicism may be present. To rule out tissue-specific or occult chromosomal mosaicism, it is recommended to culture and karyotype skin fibroblasts, since lymphocyte cell lines may not demonstrate the abnormal cell line. Early diagnosis is of paramount importance, since early physical, occupational, and speech/language therapy can greatly improve the developmental outcome of these patients. We report on a fourth patient with trisomy 7 mosaicism in whom early diagnosis and developmental therapy contributed to an improved developmental outcome when compared with patients in previous reports. Early intervention can greatly benefit patients with this diagnosis, especially in minimizing the aggressive behavior associated with communication difficulties. Our patient has milder manifestations than the previously reported patients with no seizure activity or asymmetry and fewer cells with trisomy 7.","PeriodicalId":7708,"journal":{"name":"American Journal of Medical Genetics","volume":"95 3","pages":"281-4"},"PeriodicalIF":0.0,"publicationDate":"2000-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"21928249","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