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Journal de genetique humaine最新文献

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[Otologic signs and early diagnosis of Turner syndrome. Reevaluation of 30 cases]. 特纳综合征的耳科体征及早期诊断。[30例再评价]。
Journal de genetique humaine Pub Date : 1988-08-01
B P Leheup, P Perrin, C Perrin, M Pierson
{"title":"[Otologic signs and early diagnosis of Turner syndrome. Reevaluation of 30 cases].","authors":"B P Leheup,&nbsp;P Perrin,&nbsp;C Perrin,&nbsp;M Pierson","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>In most occasions the Turner's syndrome is diagnosed on the basis of severe growth retardation. But the possibility of an effective treatment of short stature requires earlier a diagnosis. Among the other signs, the importance of ORL signs is underestimated. A group of 30 patients has been analysed to determine their precise extension. The external ears are frequently prominent, low-set and/or posteriorly rotated. Frequency and chronicity of otitis media is highlighted by hypoacousy of the transmission type. The perception pathology is far less common and seems being independent of middle ear pathology. A abnormal development of the 1st branchial arch is likely to explain the auricular pathology in view of the frequently associated anomalies of the palate and the dental articulation. One must clearly consider the diagnosis of Turner syndrome in the case of chronic auricular pathology associated with low linear velocity in a young girl allowing for earlier diagnosis.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"36 4","pages":"315-21"},"PeriodicalIF":0.0,"publicationDate":"1988-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14352010","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
[Hereditary congenital lymphedema with pseudosexual ambiguity]. [遗传性先天性淋巴水肿伴假性不清]。
Journal de genetique humaine Pub Date : 1988-08-01
P Sarda, J Jalaguier, F Montoya, H Bonnet
{"title":"[Hereditary congenital lymphedema with pseudosexual ambiguity].","authors":"P Sarda,&nbsp;J Jalaguier,&nbsp;F Montoya,&nbsp;H Bonnet","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>A case of uncommon genital lymphedema in a newborn girl like a pseudo sexual ambiguity is reported. The karyotype was 46, XX. Lymphedema of the lower limbs in the patient and in the mother's family confirmed a None-Milroy disease. Different considerations about genetic counseling in hereditary lymphedema, isolated or associated with others anomalies, are developed.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"36 4","pages":"353-60"},"PeriodicalIF":0.0,"publicationDate":"1988-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14352013","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
[The GAPO syndrome (growth retardation, alopecia, pseudo-anodontia, optic atrophy). A new case report]. GAPO综合征(生长迟缓，脱发，假性畸形，视神经萎缩)。新病例报告]。
Journal de genetique humaine Pub Date : 1988-08-01
S Manouvrier-Hanu, C Largillière, J P Farriaux
{"title":"[The GAPO syndrome (growth retardation, alopecia, pseudo-anodontia, optic atrophy). A new case report].","authors":"S Manouvrier-Hanu,&nbsp;C Largillière,&nbsp;J P Farriaux","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"36 4","pages":"373-8"},"PeriodicalIF":0.0,"publicationDate":"1988-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14197557","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 primary myeloproliferative syndrome. Three cases in the same family]. 家族性原发性骨髓增生性综合征。同一家庭有三例。
Journal de genetique humaine Pub Date : 1988-08-01
M Poissonnier, P Gruyer, L Noël, J Brière, M Tulliez, S Castaigne
{"title":"[Familial primary myeloproliferative syndrome. Three cases in the same family].","authors":"M Poissonnier,&nbsp;P Gruyer,&nbsp;L Noël,&nbsp;J Brière,&nbsp;M Tulliez,&nbsp;S Castaigne","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"36 4","pages":"367-71"},"PeriodicalIF":0.0,"publicationDate":"1988-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14352015","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
[Biochemical markers of neural tube closure defects during the second half of pregnancy]. [妊娠后半期神经管闭合缺陷的生化指标]。
Journal de genetique humaine Pub Date : 1988-08-01
S Guibaud, C Boisson, A Simplot, J M Thoulon
{"title":"[Biochemical markers of neural tube closure defects during the second half of pregnancy].","authors":"S Guibaud,&nbsp;C Boisson,&nbsp;A Simplot,&nbsp;J M Thoulon","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Increasing number of amniocentesis done during the second half of gestation with indication \"signe d'appel\" made necessary for authors to study amniotic fluid markers in late pregnancy. Normal evolution curve must be established with samples obtained after 20 weeks gestation. Study reveals more false-negative results with AFP than before 20 weeks. AChE remains constantly positive in cases with NTD, band aspect being specific. For other malformations, AChE positivity seems inconstant, with a different aspect. Some normal gestation cases can be associated with faint AChE band.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"36 4","pages":"337-46"},"PeriodicalIF":0.0,"publicationDate":"1988-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"13609839","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
[X maternal mosaicism and genetic counseling]. [X母体镶嵌与遗传咨询]。
Journal de genetique humaine Pub Date : 1988-08-01
A Nivelon-Chevallier, I Sidaner, F Mugneret, C Turc-Carel
{"title":"[X maternal mosaicism and genetic counseling].","authors":"A Nivelon-Chevallier,&nbsp;I Sidaner,&nbsp;F Mugneret,&nbsp;C Turc-Carel","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Among number of women having consulted for repeated miscarriages about sixty have a gonosomic mosaicism involving chromosome X for which abnormal clones (monosomy and/or excess) are always the minority. A retrospective study of the obstetrical follow up these patients have shown that 23% of them will give birth to a child with a chromosomic abnormality (21 trisomy, 13 trisomy, 45,X, 45,X/46,X iso X (q), 48,XXXX, 49 XXXXXY, del 5 p-). The hypothesis of a tendency toward non-disjunction is pushing for an prenatal diagnosis for patients with X mosaicism. However one can question about the real meaning of this abnormality regarding to the fact that the patients referred are not representative of the general population. Should interchromosomic interaction be taken for responsible? Is the risk for having a child chromosomic abnormality, especially X aneuploidy the same than for the overall population. It certainly would be rewarding to look after these different hypothesis in a multicentric collaborative study.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"36 4","pages":"331-6"},"PeriodicalIF":0.0,"publicationDate":"1988-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14352012","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
[Genetic counseling in craniostenosis. Results of a prospective study performed with a group of studies on craniofacial malformations]. [颅骨狭窄的遗传咨询。]一组颅面畸形的前瞻性研究的结果。
Journal de genetique humaine Pub Date : 1988-08-01
M Le Merrer, V Ledinot, D Renier, D Marchac, M L Briard
{"title":"[Genetic counseling in craniostenosis. Results of a prospective study performed with a group of studies on craniofacial malformations].","authors":"M Le Merrer,&nbsp;V Ledinot,&nbsp;D Renier,&nbsp;D Marchac,&nbsp;M L Briard","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Result of a family study based on 584 patients with craniostenosis brings some answers useful for genetic counselling. For 98 patients (15%) a syndrome is associated. Third part of them has Apert syndrome, an other third part has Crouzon syndrome, and for the last third more exceptional acrocephalosyndactyly syndrome (Saethre-Chotzen, Pfeiffer) or others atypical associations, sometimes not yet described, but with an autosomal dominant inheritance. Non syndromic craniostenosis involves differently according to the type of join, but the localization is the same if recurrence will be happen. Coronal craniostenosis seems to be a dominant autosomal character, when scaphocephaly is more often sporadic; for both, an autosomal dominant inheritance is not excluded for some pedigrees. If the recurrence risk exist in some cases, it is generally well accepted by parents on account of the good neurosurgeon prognosis.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"36 4","pages":"295-306"},"PeriodicalIF":0.0,"publicationDate":"1988-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14349451","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 trisomy 11p resulting from a balanced paternal translocation: 3 new cases including first trimester diagnosis. 由平衡父系易位引起的家族性11p三体:3例新病例，包括妊娠早期诊断。
Journal de genetique humaine Pub Date : 1988-08-01
G Ogur, F Hayez, A Herinckx, N Van Regemorter, E Vamos
{"title":"Familial trisomy 11p resulting from a balanced paternal translocation: 3 new cases including first trimester diagnosis.","authors":"G Ogur,&nbsp;F Hayez,&nbsp;A Herinckx,&nbsp;N Van Regemorter,&nbsp;E Vamos","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Three related new cases with almost complete trisomy 11p due to paternal balanced translocation 46, XY, t(7; 11) (q36.1; p11.1) are reported. The proband (Case 1) was a malformed stillborn with exomphalos, case 2 was diagnosed in the first trimester by direct chromosome preparations from chorionic villi, and confirmed on fetal products after termination of pregnancy. Case 3, a cousin to cases 1 and 2, was a 29-weeks-old fetus with omphalocele discovered at ultrasound. Literature reports of trisomy 11p are reviewed with regard to those new cases, and the possible relationship of this chromosome imbalance with the Beckwith-Wiedemann Syndrome is discussed.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"36 4","pages":"323-9"},"PeriodicalIF":0.0,"publicationDate":"1988-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14352011","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
[13th European Seminar on Genetic Counseling. Athens, Greece, 2-5 October 1987. 2]. 第13届欧洲遗传咨询研讨会。1987年10月2日至5日，希腊雅典。2]。
Journal de genetique humaine Pub Date : 1988-06-01
{"title":"[13th European Seminar on Genetic Counseling. Athens, Greece, 2-5 October 1987. 2].","authors":"","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"36 3","pages":"141-274"},"PeriodicalIF":0.0,"publicationDate":"1988-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14536636","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
[Variable expression of an autosomal dominant syndrome: (BBB syndrome or G syndrome)]. [常染色体显性综合征的可变表达:(血脑屏障综合征或G综合征)]。
Journal de genetique humaine Pub Date : 1988-06-01
M Le Merrer, A Verloes, P Narcy, M L Briard
{"title":"[Variable expression of an autosomal dominant syndrome: (BBB syndrome or G syndrome)].","authors":"M Le Merrer,&nbsp;A Verloes,&nbsp;P Narcy,&nbsp;M L Briard","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>We report a family in which Opitz-Frias G syndrome is expressed across 4 generations. The propositus displays hypertelorism, low grade hypospadias, cleft palate and lips and cleft larynx, making the diagnosis of G syndrome very likely. A cousin of his mother discloses similar clefts, vulviform hypospadias, anal imperforation and mental retardation. His clinical appearance fits perfectly the diagnosis of BBB syndrome. A nephew shows ambiguous genitalia and hypertelorism. Authors suggest the lumping of the BBB and the G syndrome.</p>","PeriodicalId":75984,"journal":{"name":"Journal de genetique humaine","volume":"36 3","pages":"257-64"},"PeriodicalIF":0.0,"publicationDate":"1988-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"14536641","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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