bluuebunny/crossref_metadata_2025_split huggingface dataset:
Cystic fibrosis: community knowledge and attitudes towards carrier screening and prenatal diagnosis
Authors: Decruyenaere Marlean , Evers‐Klebooms Gerry , Denayer Lleve , van deo Berghe Herman 
Published: July 2010

Decruyenaere M, Evers‐Kiebooms G, Denayer L, Van den Berghe H. Cystic fibrosis: community knowledge and attitudes towards carrier screening and prenatal diagnosis. Clin Genet 1992: 41: 189–196.The rate of technical advance in genetics contrasts sharply with the slow diffusion of information on this subject to the general population. In this paper, we investigate the initial knowledge about cystic fibrosis of a group of adults with increased interest in psychosocial issues, but with no special pre‐existing knowledge or training in genetics. Attitudes towards carrier screening and prenatal diagnosis for CF were also evaluated, after brief written information had been given on this disease. We found that the studied group had only a poor knowledge of the nature of CF and an even more limited awareness of its inheritance. This knowledge was mainly associated with educational level. Most respondents had no objections to population‐wide carrier screening for CF, at least if the test was proposed and not systematically imposed by the government. It is striking that a smaller proportion were interested in knowing their own carrier status. The majority of the group were in favour of prenatal diagnosis for CF. Factors associated with knowledge and attitudes are described. In the discussion, special attention is paid to the psychosocial complexity of mass screening.
Familial multiple lateral telangiectatic nevi (port‐wine stains or nevi flammei)
Authors: Pasyk Krystyna A. 
Published: July 2010

Pasyk KA. Familial multiple lateral telangiectatic nevi (port‐wine stains or nevi flammei) Clin Genet 1992:41: 197–201.Two families with multiple lateral telangiectatic nevi (LTN) (port‐wine stains or nevi flammei) in various areas of the body in two and three generations are presented. In the second family, some members in addition to LTN also had superficial (strawberry) hemangiomas and hemangioma‐like venous malformations. The pedigrees of these families indicate auto‐somal dominant inheritance of multiple LTN.
Familial Turner syndrome
Authors: Verschraegen‐Spae M‐R. , Dapypare H. , Spalaman F. , Dhondt M. , Paepe A. Da 
Published: July 2010

Verschraegen‐Spae M‐R, Depypere H, Speleman F, Dhondt M, De Paepe A. Familial Turner syndrome. Clin Genet 1992:41: 218–220.A 28‐year‐old Turner female with secondary amenorrhea is described, who showed 45,X/46,X,del(Xp) mosaicism in her blood lymphocytes and a 46,X,del(Xp) karyotype only in her ovaries. 45,X/46,XX mosaicism was found in the patient's mother, who presented short stature, mild Turner dysmorphism and had a normal reproductive life‐span. Phenotypic implications of the cytogenetic findings in the patients are discussed, and literature data on fertility in Turner syndrome are briefly reviewed.
Taurodontism of the mandibular first permanent molar distinguishes between the tricho‐dento‐osseous (TDO) syndrome and amelogenesis imperfecta
Authors: Seow W. Kim 
Published: July 2010

Seow WK. Taurodontism of the mandibular first permanent molar distinguishes between the tricho‐dento‐osseous (TDO) syndrome and amelogenesis imperfecta.Clin Genet 1993: 43: 240–246. © Munksgaard, 1993The diagnosis of tricho‐dento‐osseous (TDO) syndrome is often confused with that of a variant of amelogenesis imperfecta (AI) which shows similar dental features of hypomaturation‐hypoplastic enamel defects and putative taurodontism. In this controlled study, an objective, biometric measurement technique was used to determine the prevalence and severity of taurodontism of the mandibular first permanent molar in 23 patients with AI and one patient with TDO syndrome compared with age‐ and sex‐matched controls. The published radiographs of previous cases of TDO and hypomaturation‐hypoplastic AI were also reviewed with regard to the presence and severity of taurodontism. The results indicate that in all cases of TDO, taurodontism of the molars including mandibular first permanent molars was consistently present and in a severe form. By contrast, the taurodontic defects present in all cases of AI, including the hypomaturation‐hypoplastic variant were not significantly different from matched, healthy controls. Of significance is the fact that in all the AI cases, none of the taurodontic defects were present on the mandibular first permanent molars. The results indicate that true taurodontism as indicated by a change in the mandibular first permanent molars occurs only in the TDO syndrome. This feature may be used to differentiate clearly between TDO and AI.
Correlates of genetic risk for non‐syndromic cleft lip with or without cleft palate
Authors: Mitchell Laura E. , Risch Neil 
Published: July 2010

Mitchell LE, Risch N. Correlates of genetic risk for non‐syndromic cleft lip with or without cleft palate.Clin Genet 1993: 43: 255–260. © Munksgaard, 1993Multivariate analysis was used to determine which characteristics: sex of the proband, sibling sex, severity of the proband's defect or family history, are the best predictors of recurrence risk among siblings of individuals with non‐syndromic cleft lip with or without cleft palate (CL \pm P). Sibling recurrence risks are not significantly related to the sex of the proband. Severity of the proband's defect, classified by the extent of the lip defect (unilateral versus bilateral), was found to be a significant predictor of sibling recurrence, whereas involvement of the palate in the proband's defect was not. A positive family history of clefting (i.e. at least one affected first‐degree relative in addition to the proband) and the sex of the sibling were also found to be significant predictors of sibling recurrence. The associations between sibling risk and family history, and sibling risk and bilaterality of the proband's defect appear to be mildly confounded. After adjusting for the effects of family history, the risk to siblings of probands with bilateral lip defects is twice the risk to siblings of probands with unilateral defects (O.R. = 2.00; 95% C.I. 1.25‐3.19). A positive family history of clefting increases the risk to siblings by greater than 4‐fold (O.R. =4.49; 95% C.I. 2.74‐7.35), after adjusting for the extent of the proband's lip defect. These results provide a rational strategy for identifying subsets of the ‘at risk’ population which have markedly different recurrence risks. This information is important for genetic counseling, since it allows for more precise estimation of sibling recurrence risks in individual cases. Furthermore, our findings indicate that the power to detect linkage between a genetic marker or a candidate gene and CL \pm P will increase if the study population is ascertained through individuals with bilcteral clefts of the lip, rather than through individuals with either unilateral or bilateral CL \pm P.
Ring chromosome 20 with loss of telomeric sequences detected by multicolour PRINS
Authors: Brandt Carsten A. , Kierkegaard Ole , Hindkjær Johnny , Jensen Peter K. A. , Pedersen Søren , Therkelsen Aage J. 
Published: July 2010

Brandt CA, Kierkegaard O, Hindkjær J, Jensen PKA, Pedersen S. Ring chromosome 20 with loss of telomeric sequences detected by multicolour PRINS.Clin Genet 1993: 44: 26–31. © Munksgaard, 1993A ring chromosome 20 in a male infant with epileptic seizures, mental and somatic growth retardation, and behavioural disturbances is described. Conventional cytogenetics revealed the karyotype to be 46,XY,r(20)(pter→qter) and no signs of mosaicism were found. Fluorescence in situ hybridisation using the clone p20Z1 identified the ring to be derived from chromosome 20. By counting 111 metaphases, only 7% were found to be missing the ring. The absence of telomeric sequences in the ring chromosome was demonstrated by multicolour PRINS: a three‐step PRimed IN Situ labelling technique, using unlabelled primers. A terminal deletion of both arms thus seems to be the cause of the ring formation in the proband. Bivariate flow‐analysis of chromosomes verified a deletion of the ring chromosome. The clinical and cytogenetic findings are compared with previous cases. A specific ring 20 syndrome seems justified.
A simplified method for detection of the mutations predominantly causing cystic fibrosis and phenylketonuria in Polish families
Authors: Witt Michal , Jaruzelska Jadwiga , Kuczora Izabela , Matuszak Renata , Cichy Wojciech , Borski Krzysztof 
Published: July 2010

Witt M, Jaruzelska J, Kuczora I, Matuszak R, Cichy W, Borski K. A simplified method for detection of the mutations predominantly causing cystic fibrosis and phenylketonuria in Polish families. Clin Genet 1993: 44: 44–45. © Munksgaard, 1993Genomic DNA was isolated from dried blood specimens and subsequently used as a template in simplified PCR‐based detection assays of delta F508 mutation of CFTR gene and of R408W mutation of PAH gene in families with cystic fibrosis and phenylketonuria, respectively. Products of amplification of CFTR gene were analyzed in NuSieve agarose gel. The amplification‐created restriction site with Taql digestion was used for detection of the PAH gene mutation.
Retinitis pigmentosa: problems associated with genetic classification
Authors: Haim Marianne 
Published: July 2010

Haim M. Retinitis pigmentosa: problems associated with genetic classification.Clin Genet 1993: 44: 62–70. © Munksgaard, 1993Genetic classification of retinitis pigmentosa (RP) can be problematic, due to a large number of isolated cases, reduced penetrance, and considerable variation in expressivity. Another confounder is a high proportion of affected female carriers in X‐linked RP. Based on the genetic definitions of five different authors, a reclassification experiment was conducted with 350 Danish families. Agreement existed about a small “nucleus” of familial cases. Most definitions favored autosomal dominant inheritance at the expense of X‐linked. The experiment revealed that methodological differences to a large extent might explain the considerable variation among reported genetic frequencies of retinitis pigmentosa.
Slipped capital femoral epiphysis associated with Rubinstein‐Taybi syndrome
Authors: Bonioli Eugenio , Bellini Carlo , Sénès Filippo M. , Palmieri Antonella , Stadio Mauro Di , Pinelli Giorgio 
Published: July 2010

Bonioli E, Bellini C, Sénès FM, Palmieri A, Di Stadio M, Pinelli G. Slipped capital femoral epiphysis associated with Rubinstein‐Taybi syndrome.Clin Genet 1993: 44: 79–81. © Munksgaard, 1993The association of Rubinstein‐Taybi syndrome (RTS) and slipped capital femoral epiphysis (SCFE) is described in a girl aged 9 years and 10 months. SCFE has never been reported associated with RTS, neither as an isolated anomaly, nor in a familial pedigree. However, a “stiff gait” is frequently described in RTS patients and, furthermore, obesity is a frequent feature of RTS patients. Some reports in the literature suggest the need for an early diagnosis of SCFE among adolescent relatives of patients with SCFE. Since many SCFEs are asymptomatic and an early diagnosis is essential for a favorable prognosis, we suggest an annual echotomographic or radiological examination of the hips in RTS patients.
Y chromosome mosaicism in the gonads, but not in the blood, of a girl with the Turner phenotype and virilized external genitalia
Authors: Bisat Tarek , May Kristin , Litwer Stuart , Broecker Bruce 
Published: July 2010

Bisat T, May K, Litwer S, Broecker B. Y chromosome mosaicism in the gonads, but not in the blood, of a girl with the Turner phenotype and virilized external genitalia.Clin Genet 1993: 44: 142–145. © Munksgaard, 1993We describe a girl with virilized external genitalia and phenotypic features of Turner syndrome whose blood karyotype is 45,X. The presence of dysgenetic testicular tissue was confirmed by pathology. Using PCR and primers for the distal long arm, centromere and short arm of the Y chromosome, Y chromosome material was detected in her gonads but not in blood.
Further evidence for the location of the blepharophimosis syndrome (BPES) at 3q22.3‐q23
Authors: Fryns J. P. , Stromme P. , van den Berghe H. 
Published: July 2010

Fryns JP, Strømme P, van den Berghe H. Further evidence for the location of the blepharophimosis syndrome (BPES) at 3q22.3‐q23.Clin Genet 1993: 44: 149–151. © Munksgaard, 1993We report a 6‐year‐old, mentally retarded boy with typical clinical signs and symptoms of the blepharophimosis syndrome (blepharophimosis, ptosis, epicanthus inversus syndrome (BPES)), born to normal parents. Chromosome studies revealed an interstitial deletion in the long arm of chromosome 3: del(3)(q22.3—q23). This observation reinforces previous suggestions that the location of the BPES gene is at 3q2, i.e. 3q22.3‐q23.
Molecular cytogenetic analysis of a familial pericentric inversion of chromosome 12
Authors: Speleman Frank , van Roy Nadine , Vos Eric De , Hilliker Carl , Suijkerbuijk Ron F. S. , Leroy Juies G. 
Published: July 2010

Speleman F, Van Roy N, De Vos E, Hilliker C, Suijkerbuijk RFS, Leroy JG. Molecular cytogenetic analysis of a familial pericentric inversion of chromosome 12Clin Genet 1993: 44: 156–163. © Munksgaard, 1993We describe the application of multi‐color fluorescence in situ hybridization (FISH) in the characterization of a familial pericentric inversion. Using chromosome 12 short‐ and long‐arm specific DNA probes, fast and reliable discrimination between normal and inversion chromosome 12 or recombinant inversion chromosome 12 was possible. FISH thus provides a reliable means for prenatal detection of balanced or unbalanced chromosome 12 rearrangements in this family. This approach is possible for identification of similar chromosome rearrangements provided that probes for the putatively involved chromosome region are available.
Apolipoprotein B gene DNA polymorphisms are associated with macro‐ and microangiopathy in non‐insulin‐dependent diabetes mellitus
Authors: Ukkola Olavi , Savolainen Markku J. , Salmela Pasi I. , von Dickhoff Kai , Kesäniemi Y. Antero 
Published: July 2010

Ukkola O, Savolainen MJ, Salmela PI, von Dickhoff K, Kesäniemi YA. Apolipoprotein B gene DNA polymorphisms are associated with macro‐and microangiopathy in non‐insulin‐dependent diabetes mellitus.Clin Genet 1993: 44: 177–184. © Munksgaard, 1993The relationship between diabetic macroangiopathy or microangiopathy and apolipoprotein B (apoB) polymorphism was studied in 139 male and 129 female patients with non‐insulin‐dependent diabetes (NIDDM) mellitus, comprising consecutive patients with poor diabetic control (HBA1 13.2%\pm2.7 (SD)) referred to our hospital. Plasma cholesterol and triglyceride concentrations were higher in the patients who were homozygous for the X2 allele (presence of Xba I cleavage site). Patients with the X1 allele (absence of Xba I cleavage site) tended to have a higher frequency of macroangiopathy, although the differences were not statistically significant. There was no difference in the prevalence of microangiopathy between the groups. In subjects with only an R1 allele (= R +; homozygous for the presence of EcoR I cleavage site) the prevalence of coronary heart disease (CHD) was observed to be high (61.9%) as compared to the subjects possessing an R2 allele (= R —; homozygous or heterozygous for the absence of the EcoR I cleavage site) (46.7%; p<0.02). When the polymorphisms Xba I (subjects homozygous for the absence of the cutting site = X +; subjects homozygous or heterozygous for the presence of the cutting site = X —) and EcoR I were combined, the prevalence of macroangiopathy was observed to be high in X + R + (80.0%) as compared with X + R‐ (44.2%), X‐R+ (56.8%) and X‐R‐ (50.0%) (p<0.03). The prevalence of macroangiopathy tended to be particularly high in patients with the apoprotein E4 allele (phenotype E4\4 or E4/3), combined with either X+ or R +. Our findings suggest that variation at the apoB locus is one of the factors involved in predisposing diabetic patients to the development of arterial disease. As in previous studies the effect of the variation at the apoB gene on circulating lipid levels was observed. The data also support a role for the e4 allele of the apolipoprotein E gene as an important determinant of macroangiopathy in NIDDM.
Mosaic trisomy 16 in a thriving infant; maternal heterodisomy for chromosome 16
Authors: Lindor Noralane M. , Jalal Syeed M. , Thibodeau Stephen N. , Bonde Denise , Sauser Kristen L. , Karnes Pamela S. 
Published: July 2010

Lindor NM, Jalal SM, Thibodeau SN, Bonde D, Sauser KL, Karnes PS. Mosaic trisomy 16 in a thriving infant; maternal heterodisomy for chromosome 16Clin Genet 1993: 44: 185–189. © Munksgaard, 1993Trisomy 16 is the most common trisomy in spontaneous abortions and is usually, if not always, lethal in the nonmosaic state. We report a liveborn infant with trisomy 16 mosaicism first diagnosed by amniocentesis at 20 weeks gestation. At birth, the infant was growth retarded and mildly dysmorphic. At age 14 months she was developmentally normal and had facial asymmetry. Her length, weight and head circumference were normal. Pure trisomy 16 was found in cells from the placenta. A normal female karyotype was found in lymphocytes from the infant. Skin fibroblasts revealed a trisomy 16 karyotype in 6 of 30 cells. Molecular analysis showed maternal uniparental heterodisomy, indicating that the trisomic conceptus arose from a nondisjunction of maternal meiosis. Fibroblasts may be the tissue of choice for detection of low‐level trisomy 16 mosaicism.
No effect of TaqI polymorphism at the human renal kallikrein (KLK1) locus on normal blood pressure level or variability
Authors: Berge K. E. , Berg K. 
Published: July 2010

Berge KE, Berg K. No effect of TaqI polymorphism at the human renal kallikrein (KLK1) locus on normal blood pressure level or variability.Clin Genet 1993: 44: 196–202. © Munksgaard, 1993Renal kallikrein is a component of the kallikrein‐kinin‐system (KKS). Kallikrein has been shown to cleave the precursor kininogen to release small kinins, which cause vasodilatation, increased diuresis and natriures‐is. We have studied a normal restriction fragment length polymorphism (RFLP) at the renal kallikrein locus (KLK1), detectable with the restriction enzyme TaqI. In one series of 167 unrelated individuals we found a trend towards an association between genotypes in this polymorphism and level of diastolic blood pressure (DBP), but in two other series comprising 123 and 213 unrelated individuals, respectively, we found no suggestion of an association. Since the three series did not exhibit a consistent pattern of association between DBP levels and genotypes in this RFLP, we conclude that the association that appeared in one of the series was probably a chance event. There was no difference between genotypes in any of the three series, with respect to systolic blood pressure (SBP). In two series of, respectively, 157 and 120 complete monozygotic (MZ) twin pairs, there was no difference between genotypes with respect to within‐pair variation in SBP or DBP. This indicates that normal KLK1 genes, expressed as variants in this RFLP, do not participate in the determination of the limits within which life‐style factors may cause blood pressure (BP) changes. We conclude that neither “level gene” effects nor “variability gene” effects at the KLK1 locus are detectable with the polymorphism analyzed, in the Norwegian population.
Apple peel intestinal atresia in siblings with ocular anomalies and microcephaly
Authors: Strømme Petter , Dahl Eilif , Flage Tor , Stene‐Johansen Helge 
Published: July 2010

Strømme P, Dahl E, Flage T, Stene‐Johansen H. Apple peel intestinal atresia in siblings with ocular anomalies and microcephaly.Clin Genet 1993: 44: 208–210. © Munksgaard, 1993Two siblings who presented shortly after birth with signs of upper intestinal obstruction were successfully operated for apple peel jejunal atresia. In addition to intestinal malformations, both siblings exhibited severe microcephaly and ocular abnormalities not previously reported in this condition.
Serum lipoprotein(a) levels in elderly black and white men in the Charleston Heart Study
Authors: Knapp Rebecca G. , Schreiner Pamela J. , Sutherland Susan E. , Keil Julian E. , Gilbert Gregory E. , Klein Richard L. , Hames Curtis , Tyroler Herman A. 
Published: July 2010

Knapp RG, Schreiner PJ, Sutherland SE, Keil JE, Gilbert GE, Klein RL, Hames C, Tyroler HA. Serum lipoprotein(a) levels in elderly black and white men in the Charleston Heart Study.Clin Genet 1993: 44: 225–231. © Munksgaard, 1993Lipoprotein(a) [Lp(a)] is an important genetic trait associated with cardiovascular disease. While Lp(a) levels have been demonstrated to be approximately twice as high in black adults and children compared with whites, this relationship has not been assessed in the elderly. During the 1987 recall of the Charleston Heart Study cohort, plasma Lp(a) [mg\dl] was measured on 113 white men and 83 black men. The average age of those having Lp(a) measurements was 71 years (\pm6) for white men and 72 years (\pm 9) for black men. The distribution of Lp(a) was skewed in both whites = (mean = 14.8, median = 8.2 mg\dl) and blacks (mean = 18.1, median = 12.8 mg/dl). The skewed distribution in elderly black men was in contrast to the bell‐shaped distribution commonly reported for younger blacks. The Charleston Heart Study data suggest a shift to lower values among elderly as compared to younger men, with the greatest shift occurring among the black men. For black men who have survived to the 7th, 8th, and 9th decades of life, Lp(a) levels appear to be approaching the lower levels of white men. Despite this shift in distribution among black men, there remained a statistically significant difference in Lp(a) between racial groups.
Additional case of de novo interstitial deletion del(17)(q21.3q23) and expansion of the phenotype
Authors: Khalifa M. M. , MacLeod P. M. , Duncan A. M. V. 
Published: July 2010

Khalifa MM, MacLeod PM, Duncan AMV. Additional case of de novo interstitial deletion del(17)(q21.3q23) and expansion of the phenotype. Clin Genet 1993: 44: 258–261. © Munksgaard, 1993A child with multiple congenital abnormalities and a de novo interstitial deletion of the long arm of chromosome 17 is reported. This is the third case reported with this chromosome abnormality. The three cases present a peculiar phenotype, which is probably specific to the deletion.