摘要:

Midro AT, Stengel‐Rutkowski S, Stene J. Experiences with risk estimates for carriers of chromosomal reciprocal translocations. Clin Genet 1992:41: 113–122.The risk estimates for individual carriers of ten different familial reciprocal translocations detected among 500 couples with reproductive failures are presented. These were established by application of the empirical data analysed by Stengel‐Rutkowski et al. (1988) and the guidelines given in Stene&Stengel‐Rutkowski (1988). Different risks were estimated for unbalanced offspring at birth or at second trimester prenatal diagnosis for abortions, or stillbirths/early deaths. These risk estimates varied considerably from translocation to translocation. Carriers of five translocations had risks for offspring withsingle‐segmentimbalances. The birth risk figures ranged from 0.1% to 13.8%. Carriers of five other translocations had risks fordouble‐segmentimbalances with birth risks ranging from 0% to 3.2%. The estimated risk figures were independent of the method of ascertainment. Among the parents of the index cases we found ninematernalcarriers and only onepaternalcarrier. This presentation illustrates the need for individual risk counselling of each carrier with reciprocal translocation regarding further fami

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1992.tb03646.x

出版商:Blackwell Publishing Ltd    

年代:1992

数据来源: WILEY

摘要:

Kalaydjieva L, Dworniczak B, Kremensky I, Koprivarova K, Radeva B, Milusheva R, Aulehla‐Scholz C, Horst J. Heterogeneity of mutations in Bulgarian phenylketonuria haplotype 1 and 4 alleles. Clin Genet 1992: 41: 123–128.A study of Bulgarian patients with classical PKU demonstrated that haplotypes 1 and 4 carry a significant number of rare molecular defects resulting from independent mutational events. Differences in mutations associated with these common haplotypes exist even between populations which share a common major PKU mutation. Some amino acid substitutions, previously reported to lead to mild phenylalanine hydroxylase deficiency, were detected in the present study in compound heterozygotes with severe PKU. These findings preclude carrier testing and hyperphe‐nylalaninemia typing by genomic analysis at least in the heterogeneous Bulgarian popul

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1992.tb03647.x

出版商:Blackwell Publishing Ltd    

年代:1992

数据来源: WILEY

摘要:

Kehrer H, Krone W, Schindler D, Kaufmann R, Schrezenmeier H. Cytogenetic studies of skin fibroblast cultures from a karyotypically normal female with dyskeratosis congenita. Clin Genet 1992: 41: 129–134.Skin fibroblast cultures from a female patient with dyskeratosis congenita revealed markedly increased frequencies of chromosomal breaks, hypodi‐ploidy, and premature centromere disjunction. The frequencies of mitotic disturbances, like ana‐ and telophase bridges, lagging chromosomes, and micronuclei were almost as dramatically elevated as in cultures from two severely affected patients with Fanconi anemia. Provided that our patient is representative for an autosomal form of dyskeratosis congenita, this type of the disease seems to be characterized by chromosomal instability with a characteristic pattern of cytogenetic abnormal

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1992.tb03648.x

出版商:Blackwell Publishing Ltd    

年代:1992

数据来源: WILEY

摘要:

Bergen AAB, Schuurman EJM, van den Born LI, Samanns C, van Dorp DB, Pinckers AJLG, Bakker E, van Ommen GJB, Gal A, Bleeker‐Wage‐makers EM. Carrier detection in X‐linked ocular albinism of the Nettleship‐Falls type by DNA analysis. Clin Genet 1992: 41: 135–138.X‐linked ocular albinism (XOA) is characterized by anomalies of the eyes and hypopigmentation or absence of pigment in skin, hair and eyes due to a hereditary inborn error of metabolism affecting the pigment cells. The gene of XOA of the Nettleship‐Falls type (OAl) has been mapped to Xp22.3, and several closely linked RFLP loci have been identified. Linkage analysis and deletion mapping have established the marker gene order Xpter‐STS‐DX237‐(OA1,DXS 143.DXS85)‐DXS 16‐DXS43‐Xcen. Although the position of OAI has yet not been fully resolved, we report on the first carrier detections in XOA of the Nettleship‐Falls type by DNA analysis using markers whi

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1992.tb03649.x

出版商:Blackwell Publishing Ltd    

年代:1992

数据来源: WILEY

摘要:

Puliyel JM, Puliyel MM, Varughese S. The trichorhinophalangeal syndrome with repeated dislocation of the patella. Clin Genet 1992: 41: 139–142.The trichorhinophalangeal syndrome associated with laxity of the skin and joints has been mistaken for Ehlers‐Danlos syndrome (Jones 1988). We report a case of the trichorhinophalangeal syndrome which we mistook for the Larsen syndrome. Literature and published photographs of the Larsen syndrome are reviewed to highlight the similarities between these two entities. These observations may be of value in the genetic mapping of the Larsen syndrome, which perhaps is a contiguous gene syndr

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1992.tb03650.x

出版商:Blackwell Publishing Ltd    

年代:1992

数据来源: WILEY

摘要:

Salbert BA, Solomon M, Spence JE, Jackson‐Cook C, Brown J, Bodurtha J. Partial trisomy 19p: case report and natural history. Clin Genet 1992: 41: 143–146.Partial trisomy 19p was noted in an infant delivered at 39 weeks gestation with intrauterine growth retardation (IUGR), bilateral club feet, renal abnormalities, hearing deficit, and multiple dysmorphic features. Chromosomes obtained following amniocentesis at 32 weeks gestation revealed that the fetus was partially trisomic for 19p and partially monosomic for a portion of the terminal band of 3q, having inherited a derivative chromosome 3 from her father [46,XX,‐3, + der(3)t(3;19)(q29;p13.2)pat]. The father was found to be the carrier of a balanced translocation between chromosomes 3 and 19 [46,XY,t(3;19)(q29;p13.2)]. The only other case of partial trisomy 19p previously reported was an infant with partial trisomy 19p and partial monosomy 13q who died at 59 days of age. This report by Byrne et al. [(Am J Hum Genet1980: 32: 64A] is similar to our case with respect to IUGR, small palpebral fissures, and ear anom

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1992.tb03651.x

出版商:Blackwell Publishing Ltd    

年代:1992

数据来源: WILEY

摘要:

Temtamy SA, Ghali I, Salam MA, Hussein FH, Ezz EHAA, Salah N. Karyotype/phenotype correlation in females with short stature. Clin Genet 1992:41: 147–151.We studied 60 females who presented with short stature. The main aim was to determine the effect of karyotype variation on phenotype. A somatic feature score was calculated for each case depending on the presence of 17 clinical somatic changes known to occur in Turner syndrome. Karyotype studies showed the following results: 45, X (n = 22): 46, XX (n= 11); 45, X/ 46, XX (n= 10); 46, XX/46, Xi(Xq) (n = 4); 46, XX/46, XXq‐ (n = 3); 46, XX/ 46, XXp‐ (n = 2); 46, Xi(Xq) (n = 2); 45, X/46, Xi(Xq) (n = 2); 46, XXp‐(n= 1); 46, XX/47, XXX (n= 1); 46, XXq‐ (n= 1); 45, X/46, X(ry) (n=1). Karyotype/phenotype correlation showed the gradation of severity of clinical phenotype to be related to the number of X chromosomes. The highest somatic scores and the most severe clinical manifestations were noted in cases of pure 45, X Turner and the mildest in 46, XX/ 46, XX(str) mosaics or pure 46,XX, including hypergonadotrophic hypo‐gonadism. Our findings revealed a dosage effect of the X chromosome on phenotype, thus confirming that partial X chromosome inactivation modifies somatic and pubertal development. Our results also support both the additive and interactive hypotheses of karyotype/phenotype

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1992.tb03652.x

出版商:Blackwell Publishing Ltd    

年代:1992

数据来源: WILEY

摘要:

Saha N, Tay JSH, Chew LS. Influence of apolipoprotein B signal peptide insertion/deletion polymorphism on serum lipids and apolipoproteins in a Chinese population. Clin Genet 1992:41: 152–156.Insertion/deletion polymorphism of the apo B gene encoding signal peptide and its influence on serum lipids and apolipoproteins was studied in 269 Chinese of both sexes in Singapore. The frequency of theDelallele was found to be 0.20, which is significantly lower than that in Caucasians (France) (0.34). The distribution of genotypes of ins/del polymorphism was atHardy‐Weinbergequilibrium in this population. There was an excess of individuals with the deletion allele in hypercholesterolemic subjects compared to those with normal cholesterol levels (P<0.05). All the lipid and apolipoprotein values were regressed for age, sex and BMI by multiple regression analysis. Individuals with one or twodelalleles had significantly higher levels of serum total cholesterol (248.8± 13.0 and 255.4±20.4 mg/dl, respectively) compared to those in individuals with only the Ins allele (218.4 ± 7.8 mg/dl) (P<0.05). Serum LDL cholesterol level was also significantly higher in individuals withdelallele (173.4 ± 11.7 mg/dl) compared to that in those without thedelallele (141.1 +7.4 mg/dl) (P=0.02). The percentages of sample variance of different lipid traits explained by apo B signal peptide polymorphism were estimated by analysis of variance (ANOVA) with sex, age and BMI as covariates. 2.3% of variability of serum total cholesterol (F = 3.27,P=0.040) and 2.8% of LDL cholesterol (F = 3.87,P=0.023) could be explained by the ins/del polymorphism of the apo B signal pepti

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1992.tb03653.x

出版商:Blackwell Publishing Ltd    

年代:1992

数据来源: WILEY

摘要:

Hoo J J. A new chromosome 9 variant: an extra band within the 9qh region. Clin Genet 1992: 41: 157–158.An extra G‐positive band within the 9qh regions is reported as a new chromosome 9 variant. This variant may have been more prevalent than has hitherto been perceived. Due to its small size, this extra band might not be readily recognizable in routine G‐sta

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1992.tb03654.x

出版商:Blackwell Publishing Ltd    

年代:1992

数据来源: WILEY

摘要:

Valtat C, Galliano D, Mettey R, Toutain A, Moraine C. Monosomy 6q: report on four new cases. Clin Genet 1992:41: 159–166.We report on four patients with partial monosomy of the long arm of chromosome 6: two children presenting with an interstitial deletion del(6)(ql4ql6), the two others presenting with a terminal deletion del(6)(q25qter). These patients are compared with previous reports in the literature: 16 cases of terminal deletion and 17 cases of interstitial deletion. The deletions most often occurde novo. Mental retardation is always described. Dysmorphic facial features range between minor and major. There may be associated visceral abnormalities. After comparing the size and the localisation of the deletions with clinical data, we are now able to suggest a clinical localisation on chromosome

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1992.tb03655.x

出版商:Blackwell Publishing Ltd    

年代:1992

数据来源: WILEY