M A Mahé, M J André, E Moyon, A Le Mevel, P Soubeyran, M Hamidou, N Milpied, S Bourdin, J C Cuillière, J F Chatal
{"title":"Chromosome aberrations after radiotherapy in patients treated for non Hodgkin's lymphoma.","authors":"M A Mahé, M J André, E Moyon, A Le Mevel, P Soubeyran, M Hamidou, N Milpied, S Bourdin, J C Cuillière, J F Chatal","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Chromosome aberrations were evaluated in the lymphocytes of 30 patients who had undergone radiotherapy several years before for non-Hodgkin's lymphoma. Twelve had received 20 Gy over the entire abdomen (group I), 12 wholebody irradiation at 1.5 Gy (group II) and 6 wholebody irradiation at 15 Gy (group III). Unirradiated patients seen for cytogenetic analysis during the same period served as controls. Overall results for the irradiated population were 13/27 (48%) evaluable patients with chromosome aberrations and 50/710 (7%) abnormal cells for a total of 73 aberrations (unstable: 35, stable: 38). The frequency of aberrations was statistically higher in group I (12% of cells) than in groups II (3.5%, p < 0.0001) and III (2.5%, p < 0.0002). Differences in irradiation dose and volume may account for the variations between groups.</p>","PeriodicalId":7908,"journal":{"name":"Annales de genetique","volume":"40 2","pages":"92-8"},"PeriodicalIF":0.0,"publicationDate":"1997-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20201597","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}
C Yardin, F Esclaire, B Gilbert, P Brosset, J Hugon, D Barthe
{"title":"Identical chromosome imbalance in two siblings born to a mother with a double reciprocal translocation.","authors":"C Yardin, F Esclaire, B Gilbert, P Brosset, J Hugon, D Barthe","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>We report the case of a woman who carried two reciprocal translocations. Her karyotype was 46,XX,t(3;12)(q12;q21)(4;17)(p14;p13). She had two children, a phenotypically normal daughter (karyotype (46,XX,t(3;12)(q12;q21)) and a son with partial 4p trisomy (karyotype 46,XY,t(3;12) (q12;q21),-17,+maternal der(17)). She was pregnant with a female fetus who had the same karyotype as her son. She also reported a history of two spontaneous abortions. This viable recurrent abnormality was due to the maternal (4;17) translocation with meiotic segregation type 2:2 adjacent 1. In this case of the two reciprocal translocations carried by the mother, one led to imbalances, whereas the other remained balanced in the viable offspring.</p>","PeriodicalId":7908,"journal":{"name":"Annales de genetique","volume":"40 4","pages":"232-4"},"PeriodicalIF":0.0,"publicationDate":"1997-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20450898","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}
M Mathieu, C Piussan, F Thepot, A Gouget, D Lacombe, J M Pedespan, F Serville, D Fontan, M Ruffie, A Nivelon-Chevallier, F Amblard, P Chauveau, H Moirot, J P Chabrolle, M F Croquette, M Teyssier, H Plauchu, M C Pelissier, S Gilgenkrantz, C Turc-Carel, C Turleau, M Prieur, M Le Merrer, M Gonzales, H Journel
{"title":"Collaborative study of mosaic tetrasomy 12p or Pallister-Killian syndrome (nineteen fetuses or children).","authors":"M Mathieu, C Piussan, F Thepot, A Gouget, D Lacombe, J M Pedespan, F Serville, D Fontan, M Ruffie, A Nivelon-Chevallier, F Amblard, P Chauveau, H Moirot, J P Chabrolle, M F Croquette, M Teyssier, H Plauchu, M C Pelissier, S Gilgenkrantz, C Turc-Carel, C Turleau, M Prieur, M Le Merrer, M Gonzales, H Journel","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The difficulties in the diagnosis of Pallister-Killian syndrome are illustrated in this study of nineteen fetuses and children. Diagnosis based on clinical appearance alone is often difficult due to the broad spectrum of clinical anomalies not specific to this syndrome. Due to mosaicism, it is altogether necessary to examine several tissues for the presence of tetrasomy 12p, including circulating lymphocytes in which mosaicism can be as low as 1-3%, amniocytes, chorionic cells and skin fibro-blasts in which mosaicism ranges from 6-100%. When highly suspected on ultrasound examination, the diagnosis recommends prenatal cytogenetic studies because survivors are severely mentally retarded. All the cases are sporadic with only a single preliminary report of recurrence. The cytogenetic diagnosis is therefore helpful in order to reassure family members in regard to genetic counseling.</p>","PeriodicalId":7908,"journal":{"name":"Annales de genetique","volume":"40 1","pages":"45-54"},"PeriodicalIF":0.0,"publicationDate":"1997-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20098392","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}
T Bienvenu, M Adjiman, N Thiounn, M Jeanpierre, D Hubert, J Lepercoq, C Francoual, J Wolf, V Izard, P Jouannet, J C Kaplan, C Beldjord
{"title":"Molecular diagnosis of congenital bilateral absence of the vas deferens: analyses of the CFTR gene in 64 French patients.","authors":"T Bienvenu, M Adjiman, N Thiounn, M Jeanpierre, D Hubert, J Lepercoq, C Francoual, J Wolf, V Izard, P Jouannet, J C Kaplan, C Beldjord","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Congenital bilateral absence of the vas deferens is a congenital reproductive disorder that affects about one in 1000 male individuals. Screening of the entire coding and flanking sequences of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in 64 males with CBAVD revealed that in only 23% CBAVD was caused by two CFTR mutations. The 5T allele in one copy, that causes reduced levels of the normal CFTR protein, in combination with a CFTR mutation in the other copy, was one of the most common causes of CBAVD. Twenty six per cent of men with CBAVD had the 5T allele. The presence of only one CFTR mutation or the 5T allele in 34% of patients suggests that undetected changes in CFTR may be involved in CBAVD. These molecular defects are probably mutations with partial penetrance. Moreover, the high proportion (20%) of patients with CBAVD who did not have CFTR mutations or the 5T allele allows to propose that another gene or genes could be responsible for CBAVD. In these cases, in vitro fertilization may be required and the genetic counselling appears to be very complex and additional studies, including CFTR mRNA and linkage analyses, are required to resolve these questions.</p>","PeriodicalId":7908,"journal":{"name":"Annales de genetique","volume":"40 1","pages":"5-9"},"PeriodicalIF":0.0,"publicationDate":"1997-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20098414","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":"Clinical applications of primed in situ labelling (PRINS) rapid identification of a marker chromosome in a fetus.","authors":"G V Velagaleti, N J Carpenter, A T Tharapel","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Marker chromosomes pose a serious problem in clinical cytogenetic diagnosis since the conventional banding analyses are often not useful in identifying their origin or composition. In the absence of information, counseling as to the clinical significance and prognosis is difficult, especially in prenatal diagnosis. With the introduction of fluorescence in situ hybridization (FISH) marker identification has became feasible. However, FISH is relatively time-consuming and expensive. In an effort to overcome these disadvantages, we have used primed in situ labelling (PRINS) technique as an alternative. Presented here is one case in which PRINS was useful in rapidly identifying the origin of a marker chromosome detected on amniotic fluid chromosome analysis. Based on our experience with this case and others, we propose that PRINS can become a viable and cost effective alternative to FISH and is as reliable as FISH in terms of accuracy, specificity, and sensitivity.</p>","PeriodicalId":7908,"journal":{"name":"Annales de genetique","volume":"40 3","pages":"154-7"},"PeriodicalIF":0.0,"publicationDate":"1997-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20330274","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}
P D Cotter, A Babu, L D McCurdy, M Caggana, J P Willner, R J Desnick
{"title":"Homozygosity for pericentric inversions of chromosome 9. Prenatal diagnosis of two cases.","authors":"P D Cotter, A Babu, L D McCurdy, M Caggana, J P Willner, R J Desnick","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The finding of homozygosity for a pericentric inversion of chromosome 9 [inv(9)] is rare, and previously has not been reported at prenatal diagnosis. We describe two unrelated cases of homozygosity for inv(9) identified in amniocytes. In each case, both parents were heterozygotes for the inv(9); 46,XX,inv(9)(p11q13) and 46,XY,inv(9) (p11q13). Case 1 resulted in a normal term infant who at age 5 years was phenotypically and developmentally normal. Case 2 was referred for severe intrauterine growth retardation (IUGR) and oligohydramnios, and subsequently expired in utero. Even though inv(9) is a normal chromosome variant with a frequency of 1 to 3% in the general population, the finding of homozygosity for inv(9) and IUGR in this fetus suggested the possibility of uniparental disomy (UPD). Molecular studies confirmed the presence of both parental inv(9) chromosomes, excluding the possibility of chromosome 9 UPD as the cause of IUGR in this fetus. Presumably, inv(9) homozygosity results from the high frequency of inv(9) heterozygosity, and is a normal variant. However, until the effects of UPD for chromosome 9 are established, parental karyo types and, where appropriate, molecular studies should be performed to exclude UPD. In addition, more reports of inv(9) homozygosity detected prenatally are needed to assess its frequency and outcome.</p>","PeriodicalId":7908,"journal":{"name":"Annales de genetique","volume":"40 4","pages":"222-6"},"PeriodicalIF":0.0,"publicationDate":"1997-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20449568","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}
G Plessis, M Le Treust, F Lemaire, T Maugard, D Cau
{"title":"Trisomy 18 mosaicism in a mildly retarded boy with postnatal overgrowth.","authors":"G Plessis, M Le Treust, F Lemaire, T Maugard, D Cau","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>We report a 6-year-old mildly retarded boy with trisomy 18 in 44% of peripheral lymphocytes. He had mild nonspecific dysmorphic features, microcephaly, micropenis with cryptorchidism and postnatal overgrowth. Trisomy 18 mosaicism was confirmed by a fluorescent in situ hybridization study. Ten previous reports of trisomy 18 mosaicism with normal or subnormal intelligence have been described but only one case of trisomy 18 mosaicism with high stature has been reported.</p>","PeriodicalId":7908,"journal":{"name":"Annales de genetique","volume":"40 4","pages":"235-7"},"PeriodicalIF":0.0,"publicationDate":"1997-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20450899","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":"Prevalence of neural tube defects in northeastern France, 1979-1994. Impact of prenatal diagnosis.","authors":"Y Alembik, B Dott, M P Roth, C Stoll","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The objective of this study was to determine in total prevalence of neural tube defects (NTD) in northeastern France during 1979-1994 inclusive, the impact of prenatal diagnosis on birth prevalence. All births and termination of pregnancy affected by NTD were ascertained from multiple sources thank to our registry of congenital anomalies. In our region maternal serum alpha-fetoprotein screening is not available whereas routine ultrasonographic screening of congenital anomalies is performed in all pregnant women. Total prevalence of NTD during 1979-1994 was 10.73 per 10,000 with no upward or downward trend. The total prevalence of NTD in our region remained stable. However birth prevalence fell significantly. The fall was 100 per cent for anencephaly and 60 per cent for spina bifida. This birth prevalence was unchanged for encephalocele. This decrease for anencephaly and spina bifida was obtained by routine ultrasonographic examination only and termination of pregnancy. Comparison with similar studies in other countries demonstrated that screening by maternal serum alpha-fetoprotein is needed in our region.</p>","PeriodicalId":7908,"journal":{"name":"Annales de genetique","volume":"40 2","pages":"69-71"},"PeriodicalIF":0.0,"publicationDate":"1997-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20201108","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}
A T Midro, B Olchowik, M Rogowska, E Hubert, E Hassman-Poznańska, A Papasz, S Szulc, A Wiśniewski
{"title":"Floating Harbor syndrome. Case report and further syndrome delineation.","authors":"A T Midro, B Olchowik, M Rogowska, E Hubert, E Hassman-Poznańska, A Papasz, S Szulc, A Wiśniewski","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Floating Harbor syndrome was diagnosed in a 9 years old girl on the basis of short stature, delayed bone age, mild mental retardation, speech problems and specific craniofacial features. A detailed phenotype description is given and evaluated together with 18 other published case reports according to the concept of the Munich Dysmorphology Database (Stengel-Rutkowski et al., 1996) with the aim to delineate the spectrum of clinical and anthropological features.</p>","PeriodicalId":7908,"journal":{"name":"Annales de genetique","volume":"40 3","pages":"133-8"},"PeriodicalIF":0.0,"publicationDate":"1997-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20330270","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}
L Taine, C Goizet, Z Q Wen, J F Chateil, J Battin, R Saura, D Lacombe
{"title":"18p monosomy with midline defects and a de novo satellite identified by FISH.","authors":"L Taine, C Goizet, Z Q Wen, J F Chateil, J Battin, R Saura, D Lacombe","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>We report a girl with an 18p deletion and showing a total GH deficiency, a single central maxillary incisor, and a pituitary dysplasia. This suggests that del(18)(p) could be involved in pituitary dysplasia. We review the association between midline developmental defects and chromosome 18 anomalies. This case is due to a de novo satellite resulting from an unbalanced translocation t(18p;13p) identified by FISH. This is the first case of this cytogenetic mechanism in the 18p monosomy.</p>","PeriodicalId":7908,"journal":{"name":"Annales de genetique","volume":"40 3","pages":"158-63"},"PeriodicalIF":0.0,"publicationDate":"1997-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"20330275","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}