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Journal de genetique humaine最新文献

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[Conradi-H:unermann chondrodysplasia punctata and fetal alcoholism]. [conrad - h:unermann点状软骨发育不良与胎儿酒精中毒]。
Journal de genetique humaine Pub Date : 1989-12-01
P Sarda, S Guillaumont, J Jalaguier, H Bonnet
{"title":"[Conradi-H:unermann chondrodysplasia punctata and fetal alcoholism].","authors":"P Sarda,&nbsp;S Guillaumont,&nbsp;J Jalaguier,&nbsp;H Bonnet","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Fetal alcoholism induces an extremely wide spectrum of embryopathies. In addition to the classical fetal alcohol syndrome, alcohol is also the cause of numerous fetal malformations. A case of Conradi-Hünermann type chondrodysplasia punctata is reported. Maternal alcohol ingestion was reported during gestation.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"37 4-5","pages":"395-9"},"PeriodicalIF":0.0,"publicationDate":"1989-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13778384","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
Clinical and biological studies in 14 cases of Prader-Labhart Willi syndrome. Prader-Labhart - Willi综合征14例临床及生物学研究。
Journal de genetique humaine Pub Date : 1989-12-01
E M Thompson
{"title":"Clinical and biological studies in 14 cases of Prader-Labhart Willi syndrome.","authors":"E M Thompson","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"37 4-5","pages":"439"},"PeriodicalIF":0.0,"publicationDate":"1989-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13778342","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
[Renal agenesis and the Fraser syndrome: 4 observations]. 【肾发育不全与弗雷泽综合征:4例观察】。
Journal de genetique humaine Pub Date : 1989-12-01
P Vanlieferinghen, C Francannet, E Robert, G Malpuech, J M Robert
{"title":"[Renal agenesis and the Fraser syndrome: 4 observations].","authors":"P Vanlieferinghen,&nbsp;C Francannet,&nbsp;E Robert,&nbsp;G Malpuech,&nbsp;J M Robert","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The authors report on 4 cases of Fraser syndrome in 2 Turkish families. Both families are consanguinous. In 3 cases there is a bilateral renal agenesis, a feature which is not usually regarded as a main one. Actually the survey of the literature reveals that renal anomalies are not infrequent in this syndrome, even though the cryptophtalmos would be lacking. A five year study of the malformations Registry of the Rhone-Alpes-Auvergne-Jura area shows that the association between renal agenesis and syndactyly (with or without the eye abnormalities) is quite rare. Such an association leads to the diagnosis of Fraser Syndrome even when cryptophtalmos is absent, and requires to look for minor ENT or ophthalmic symptoms by a careful post mortem examination.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"37 4-5","pages":"373-7"},"PeriodicalIF":0.0,"publicationDate":"1989-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13778382","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
[Diagnosis of deficiency in cofactor of phenylalanine hydroxylase: a metabolic emergency]. [苯丙氨酸羟化酶辅助因子缺乏症的诊断：代谢急症]。
Journal de genetique humaine Pub Date : 1989-12-01
M Meyer, G Malpuech, J Geneste, J B Palcoux, C Francannet, P Vanlieferinghen
{"title":"[Diagnosis of deficiency in cofactor of phenylalanine hydroxylase: a metabolic emergency].","authors":"M Meyer, G Malpuech, J Geneste, J B Palcoux, C Francannet, P Vanlieferinghen","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>We report on two cases of children suffering from biopterin synthetase deficiency. Both were treated with the same treatment schedule with biopterin and neurotransmitters: 6-hydroxytryptophan and dihydrophenylalanine (DOPA). The only difference between the two cases is the time of diagnosis and therefore of treatment. The child who was treated early has a normal neurologic development. The other one has been treated since he was 7 months old and is mentally deficient (DQ = 0.60). This older child also suffers from dystonia probably secondary to Levodopa treatment. The authors emphasize the uncertainty of these patient's evolution owing to complications of the disease itself or those due to prolonged treatment by neurotransmitters.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"37 4-5","pages":"315-9"},"PeriodicalIF":0.0,"publicationDate":"1989-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13663442","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
[Anomalies in thyroid function in children with trisomy 21]. [21三体儿童甲状腺功能异常]。
Journal de genetique humaine Pub Date : 1989-12-01
C Stoll, Y Alembik, B Dott, S Finck
{"title":"[Anomalies in thyroid function in children with trisomy 21].","authors":"C Stoll,&nbsp;Y Alembik,&nbsp;B Dott,&nbsp;S Finck","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Thyroid function of 60 children with Down (DS) aged 3 months to 16 years was studied by evaluation of serum concentration of ultra-sensitive thyroid stimulating hormone (TSH), free T4 and T3 (FT4, FT3), total T4 and T3 (T4 and T3) and reverse T3 (rT3). Each DS child was matched to a control of the same age. The concentration of TSH was increased in DS children while the concentration of rT3 of the DS children was significantly decreased compared to the controls as was the ratio rT3/TSH. These results showed that thyroid function of DS children is abnormal.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"37 4-5","pages":"389-93"},"PeriodicalIF":0.0,"publicationDate":"1989-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13679600","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
[Urgent needs in genetics: clinical diagnosis of acute amino acid disorders of delayed onset]. [遗传学的迫切需要:迟发性急性氨基酸紊乱的临床诊断]。
Journal de genetique humaine Pub Date : 1989-12-01
J M Saudubray, S Lyonnet, A Lombes, F Hervé, J P Bonnefont, A Munnich, H Ogier
{"title":"[Urgent needs in genetics: clinical diagnosis of acute amino acid disorders of delayed onset].","authors":"J M Saudubray,&nbsp;S Lyonnet,&nbsp;A Lombes,&nbsp;F Hervé,&nbsp;J P Bonnefont,&nbsp;A Munnich,&nbsp;H Ogier","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"37 4-5","pages":"299-310"},"PeriodicalIF":0.0,"publicationDate":"1989-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13778378","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
[F.G. syndrome: a rare and/or extremely polymorphic syndrome?]. [F.G.综合征:一种罕见和/或极度多态综合征。
Journal de genetique humaine Pub Date : 1989-12-01
P Sarda, G Lefort, J Jalaguier, H Bonnet
{"title":"[F.G. syndrome: a rare and/or extremely polymorphic syndrome?].","authors":"P Sarda,&nbsp;G Lefort,&nbsp;J Jalaguier,&nbsp;H Bonnet","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>We report a case of mental retardation associated with multiple congenital anomalies suggesting an F.G. syndrome. We discuss problems concerning genetic counselling and the management of future pregnancies. Unfortunately, no concrete strategy, concerning prenatal diagnosis, can be proposed.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"37 4-5","pages":"401-3"},"PeriodicalIF":0.0,"publicationDate":"1989-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13778385","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
[Adynamia episodica hereditaria: Gamstorp's disease or Eulenburg's paramyotonia?]. [偶发性遗传性肌张力障碍:Gamstorp病还是Eulenburg氏肌张力异常?]
Journal de genetique humaine Pub Date : 1989-12-01
M Pierson, B Leheup, C Jeandel
{"title":"[Adynamia episodica hereditaria: Gamstorp's disease or Eulenburg's paramyotonia?].","authors":"M Pierson,&nbsp;B Leheup,&nbsp;C Jeandel","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Over seven generations owing 71 identified and studied persons, 18 (12 males and 6 females) suffered paroxystically adynamic paralysis or myotonic accesses. A such association is rare and according to the proeminent symptoms is denominated as hyperkaliemic periodic paralysis or as congenital paramyotonia. In the both forms of the diseases: cold injury, fasting, long time resting, or efforts are able to provoke crisis and so does an oral potassium loading. Studies on Ka+Na membrane permeability suggest the responsibility of Na+ K+ pump and may explain the physiopathology of the alternative manifestations at the muscle cellular level but may be are rather a marker than a cause of permeability disturbances. In the present family, some clinical, biological and electrophysiological arguments suggest the unicity of the disease. A better way to confirm that would be the localisation of a unique gene in the patient. DNA samples of several members are in study for molecular biology in the hope to precise a identical location. Some informations from molecular biologists suggest a probable location near the myotonic dystrophy (M.D.) in the 19 q12 but not identical with it.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"37 4-5","pages":"379-87"},"PeriodicalIF":0.0,"publicationDate":"1989-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13778383","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
On the occurrence of macroorchidism and mental handicap in the Aarskog syndrome. 论Aarskog综合征大睾丸功能障碍和智力障碍的发生。
Journal de genetique humaine Pub Date : 1989-09-01
J P Fryns, H Van den Berghe
{"title":"On the occurrence of macroorchidism and mental handicap in the Aarskog syndrome.","authors":"J P Fryns,&nbsp;H Van den Berghe","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>In this report we present follow-up on two moderately mentally retarded boys with Aarskog syndrome. As 22 other mentally normal Aarskog patients these two boys presented a catch-up after a delayed puberty with a final adult height of 160 cm. A remarkable finding was the development of macroorchidism in two mentally retarded Aarskog patients. The pathogenesis of macroorchidism in the fragile X syndrome and in other X-linked mental retardation syndromes is discussed.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"37 3","pages":"221-3"},"PeriodicalIF":0.0,"publicationDate":"1989-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13767149","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
[Truncus arteriosus: an autosomal recessive disease?]. [动脉干:常染色体隐性遗传病?]
Journal de genetique humaine Pub Date : 1989-09-01
B le Marec, S Odent, C Almange, H Journel, M Roussey, G Defawe
{"title":"[Truncus arteriosus: an autosomal recessive disease?].","authors":"B le Marec,&nbsp;S Odent,&nbsp;C Almange,&nbsp;H Journel,&nbsp;M Roussey,&nbsp;G Defawe","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Truncus arteriosus is an uncommon heart malformation; it is not reported that recurrence is high; nevertheless authors report three families with two or more cases; in the third there is a very high consanguinity (two uncle-niece marriages). The authors compare the situation with hypoplastic left heart and think that some cases of truncus arteriosus would have an autosomal recessive inheritance. That is an another argument for suggesting an echocardiographic survey of the pregnancies in these families.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"37 3","pages":"225-30"},"PeriodicalIF":0.0,"publicationDate":"1989-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13767150","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
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