bluuebunny/crossref_metadata_2025_split huggingface dataset:
Gaudier patients with oculomotor abnormalities do not have a unique genotype
Authors: Sidransky Ellen , Tsujl Shoji , Stubblefield Barbara K. , Gurrie Jon , FitzGibbon Edfflond J. , Glnns Edward I. 
Published: July 2010

Sidransky E, Tsuji S, Stubblefield BK, Currie J, FitzGibbon E, Ginns EI. Gaudier patients with oculomotor abnormalities do not have a unique genotype. Clin Genet 1992: 41: 1–5.Sixteen non‐Ashkenazic American children with Gaucher disease who demonstrate slowing of the horizontal saccades are described. Attempts to correlate this specific clinical phenotype with a unique genotype were unsuccessful. Focusing on the three most common mutations, at least five different genotypes were present in these patients. Children with this isolated oculomotor abnormality generally had a diffusely slowed background on EEG, but an otherwise normal neurologic examination, and exhibited earlier and more severe systemic manifestations and mortality. This study emphasizes the need for careful sequential neuro‐ophthalmo‐logic examinations in Gaucher patients and the need for caution in attempting to make clinical predictions regarding the course of Gaucher disease on the basis of current DNA mutational analysis.
An HLA study in 74 Danish haemochromatosis patients and in 21 of their families
Authors: Milman Nils , Graudal Niels , Nielsen Lillian Staub , Fenger Kirsten 
Published: July 2010

Milman N, Graudal N, Nielsen LS, Fenger K. An HLA study in 74 Danish haemochromatosis patients and in 21 of their families. Clin Genet 1992: 41: 6–11HLA‐A and ‐B alleles in 74 Danish patients and 21 homozygous relatives with idiopathic haemochromatosis (IH) were compared with those in a sample of 1719 chromosomes from healthy Danish control subjects. The following alleles occurred with higher frequencies in IH compared to controls: A3: 53.6% vs. 15.1% (Pc <0.001); B7: 33.1% vs. 15.6% (Pc <0.001): B14: 6.9% vs. 3.0% (Pc >0.05); B38: 5% vs. 0.9% (Pc >0.05); B47: 4.0% vs. 0.4% (Pc >0.05). Pedigree analyses disclosed 19 different haplotypes in IH subjects, compared to 286 haplotypes in controls. The following haplotypes occurred with higher frequency in IH compared to controls: A3,B5: 10.3% vs. 0.3% (Pc <0.001); A3,B7: 25.6% vs. 6.6% (Pc= 0.001); A3,BI4: 3.4% vs. 0.6% (Pc >0.05); A3,B47: 6.9% vs. 0.2% (Pc >0.05). The major IH marker HLA‐A3 was found in 56% of the haplotypes. The patterns of HLA‐alleles associated with IH in Denmark show similarities to those in Central Europe, Australia, USA and Canada, being A3,B7 dominated and those in Central Sweden, England and Ireland, being A3, B14 dominated.
Birth prevalence studies of the Crouzon syndrome: comparison of direct and indirect methods
Authors: Cohen M. Michael , Krelborg Sven 
Published: July 2010

Cohen Jr MM, Kreiborg S. Birth prevalence studies of the Crouzon syndrome: comparison of direct and indirect methods. Clin Genet 1992: 41: 12–15.An indirect method for estimating the birth prevalence of the Crouzon syndrome is presented. The fraction of Crouzon syndrome patients in large clinical surveys of all cases of craniosynostosis is calculated and the fractional component obtained is multiplied by the known birth prevalence of craniosynostosis in general. Crouzon syndrome makes up approximately 4.8% of all cases of craniosynostosis. Using a weighted average estimate, birth prevalence was calculated to be 16.5/1 000 000. The results of the indirect method compare favorably with those obtained by the direct method. Nevertheless, because the indirect method is based on a number of assumptions that are easily violated, we cannot recommend its general use except under special circumstances.
A unique de novo interstitial deletion del(17) (q21.3q23) in a phenotypically abnormal infant
Authors: Park Jonathan P. , Moeschler John B. , Berg Susan Z. , Bauer Ranee M. , Wurster‐Hill Doris H. 
Published: July 2010

Park JP, Moeschler JB, Berg SZ, Bauer RM, Wurster‐Hill DH. A unique de novo interstitial deletion del(17)(q21.3q23) in a phenotypically abnormal infant. Clin Genet 1992:41: 54–56.We report on an infant with multiple congenital anomalies possessing a de novo, interstitially deleted no. 17 chromosome. The phenotype includes brachycephaly, club feet, delay of growth and development, and hyperte‐lorism with upslanted palpebral fissures. We are unaware of other reported cases involving such interstitial deletion of 17, or of translocations involving the breakpoint regions observed in our case.
The thymic findings in stillborns with neural tube defects
Authors: Seniz Fatma Nur 
Published: July 2010

Seniz FN. The thymic findings in stillborns with neural tube defects. Clin Genet 1992: 41: 62–64.Neural tube defects are among the most common congenital anomalies causing perinatal deaths. Other organ system anomalies may be associated with neural tube defects: for instance, various types of thymus pathology have been reported in these patients. In this study thymic changes were investigated in 30 stillborns with neural tube defects seen between January 1988 and June 1989. Thymic weights were significantly reduced in 14 cases and increased in 7. One patient had a double thymus, and in two cases no thymus tissue could be found. These findings suggest a primary developmental defect of the neural crest, affecting the orderly development of the thymus gland.
Autosomal dominant congenital cataract; linkage relations; clinical and genetic heterogeneity
Authors: Lund Allan M. , Eiberg Hans , Rosenberg Thomas , Warburg Mette 
Published: July 2010

Lund AM, Eiberg H, Rosenberg T, Warburg M. Autosomal dominant cataract; linkage relations; clinical and genetic heterogeneity. Clin Genet 1992:41:65–69.Congenital cataract is a heterogeneous disorder. Approximately one third of the cases are hereditary. A large family with autosomal dominant congenital cataract is described here. Clinical examinations showed variable expressivity, but all affected persons were eventually operated, most of them in the first or second decade of life. Linkage relations with a number of polymorphic marker systems were studied, all of them being negative. Among the 21 systems studied were Fy, HP, DI6S4 and CRYG. The present autosomal dominant congenital cataract is termed the Volkman cataract, after the ancestor in the pedigree, and is genotypically different from the Marner cataract found in another large Danish pedigree.
A new form of X‐linked, high‐frequency, sensorineural deafness
Authors: Wellesley Diana , Goldblatt Jack 
Published: July 2010

Wellesley D, Goldblatt J. A new form of X‐linked, high‐frequency, sensorineural deafness. Clin Genet 1992:41:79–81.A kindred is described in which five male members over three generations manifested a high‐frequency deafness. Their isolated sensorineural hearing loss was non‐progressive and only in the 1500–8000 Hz range. The pattern of inheritance and nature of the auditory deficit would suggest it is a previously undescribed X‐linked form of deafness.
A boy with Poland anomaly and facio‐auriculo‐vertebral dysplasia
Authors: Cobben J. M. , van Essen A. J. , McParland P. G. , Polman H. A. , ten Kate L. P. 
Published: July 2010

Cobben JM, Van Essen AJ, McParland PC, Polman HA, ten Kate LP. A boy with Poland anomaly and facio‐auriculo‐vertebral dysplasia. Clin Genet 1992: 41: 105–107.Poland anomaly and facio‐auriculo‐vertebral dysplasia are considered to be separate entities. We describe a 3‐year‐old boy with features of both Poland anomaly and facio‐auriculo‐vertebral dysplasia. This is the first report, to our knowledge, of this combination of birth defects. Possible pathogenetic implications are discussed.
Hereditary motor and sensory neuropathy type I, associated with aplasia cutis congenital possible X‐linked inheritance
Authors: Castle David , Isaacs Hyam , Ramsay Michale , Bernstein Renee 
Published: July 2010

Castle D, Isaacs H, Ramsay M, Bernstein R. Hereditary motor and sensory neuropathy type I, associated with aplasia cutis congenita: possible X‐linked inheritance. Clin Genet 1992:41: 108–110.We report a family with possible X‐linked recessive HMSN I with minor signs of the disease and abnormal sensory conduction studies evident in female carriers. There is a previously undescribed association with aplasia cutis congenita in both affected males, and a history of a severe skull defect in a third male child, who died at birth. The latter defect usually shows an autosomal dominant pattern of inheritance.
Influence of apolipoprotein B signal peptide insertion/deletion polymorphism on serum lipids and apolipoproteins in a Chinese population
Authors: Saha N. , Tay J. S. H. , Chew L. S. 
Published: July 2010

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 the Del allele 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 at Hardy‐Weinberg equilibrium 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 two del alleles 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 with del allele (173.4 ± 11.7 mg/dl) compared to that in those without the del allele (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 peptide gene.
Detection of subtle reciprocal translocations by fluorescence in situ hybridization
Authors: Speleman Frank , van Roy Nadine , Wlegant Joop , Verschraegen‐Spae Marie Rose , Benoit Yves , Govaert Paul , Goossens Linde , Leroy Jules G. 
Published: July 2010

Speleman F, Van Roy N, Wiegant J, Verschraegen‐Spae MR, Benoit Y, Govaert P, Goossens L, Leroy JG. Detection of subtle reciprocal translocations by fluorescence in situ hybridization. Clin Genet 1992:41: 169–174.Three different subtle reciprocal translocations were detected on long, well‐banded chromosomes. The same translocations were examined using fluorescence in situ hybridization (FISH) with chromosome‐specific libraries and unique DNA sequences. Our findings show that FISH allows rapid and unequivocal detection and characterization of this type of chromosome rearrangement. This approach is especially useful for prenatal diagnosis when one of the parents is a balanced carrier of such small fragment translocations.
Familial occurrence of ring chromosome 15
Authors: Horigome Y. , Kondo I. , Kuwajima K. , Suzuki T. 
Published: July 2010

Horigome Y, Kondo I, Kuwajima K, Suzuki T. Familial occurrence of ring chromosome 15. Clin Genet 1992: 41: 178–180.We present a family with the ring 15 chromosome (r(15)) syndrome in a 2‐year‐old infant and his mother. Both had the common clinical manifestations reported in previous cases with r(15), including severe short stature, microcephaly, triangular face, and mild mental retardation. The family also had a normal son. Although males with r(15) syndrome usually seem to be infertile, female r(15) patients are likely to be fertile and their reproductivity may be influenced by severe growth retardation.
The hand‐foot‐genital syndrome: on the variable expression in affected males
Authors: Fryns J. P. , Vogels A. , Decock P. , van den Berghe H. 
Published: July 2010

Fryns JP, Vogels A, Decock P, Van den Berghe H. The hand‐foot‐genital syndrome: on the variable expression in affected males.Clin Genet 1993: 43: 232–234. © Munksgaard, 1993In this report we document male‐to‐male transmission in the hand‐foot‐genital syndrome. An affected father transmitted the syndrome to his three sons. A grade IV hypospadias, which was the most severe genital anomaly in affected males, was present in the youngest, moderately mentally retarded microcephalic male sibling.
Chromosome painting using FISH (fluorescence in situ hybridization) with chromosome‐6‐specific library demonstrates the origin of a de novo 6q+ marker chromosome
Authors: Brendum‐Nielsen Karen , Bajalica Svetlana , Wulff Karl , Wikkelsen Margareta 
Published: July 2010

Brøndum‐Nielsen K, Bajalica S, Wulff K, Mikkelsen M. Chromosome painting using FISH (fluorescence in situ hybridization) with chromosome‐6‐specific library demonstrates the origin of a de novo 6q+ marker chromosome.Clin Genet 1993: 43: 235–239. © Munksgaard, 1993We report the application of chromosome painting using FISH (fluorescence in situ hybridization) to demonstrate the origin of a de novo 6q + marker chromosome. A girl with a mental retardation/multiple malformation syndrome was shown to have the karyotype 46,XX, 6q+. Banding analysis could not determine the origin of the extra chromosomal material. Using FISH with a chromosome‐6‐specific library we showed that the marker chromosome was completely painted, indicating an origin from chromosome 6. The child's phenotype was compared with previously reported cases with partial chromosome 6 trisomy. A clinically recognized syndrome emerged, although she apparently also demonstrated novel features.
Germinal mosaicism in a Duchenne muscular dystrophy family: implications for genetic counselling
Authors: Melis Maria Antonietta , Cau Milena , Congiu Rita , Puddu Rosalha , Muntoni Francesco , Cao Antonio 
Published: July 2010

Melis MA, Cau M. Congiu R, Puddu R, Muntoni F, Cao A. Germinal mosaicism in a Duchenne muscular dystrophy family: implications for genetic counselling.Clin Genet 1993: 43: 247–249. © Munksgaard, 1993In this study we describe a three‐generation family in which two siblings were affected by Duchenne muscular dystrophy (DMD). Immunohisto‐chemical analysis of muscle dystrophin and haplotype analysis of the DMD locus revealed that the X chromosome carrying the DMD gene was transmitted from the healthy maternal grandfather to his three daughters. including the proband's mother. These findings indicate that the grandfather was a germinal mosaic for the DMD gene. The definition of the carrier status in two possible carriers led us to give accurate genetic counselling and to prevent the birth of an affected boy. The results of this study demonstrate the usefulness of haplotype analysis and immuno‐histochemical muscle dystrophin studies to detect hidden germinal mosaicism and to improve genetic counselling.
Linkage analysis‐in a family with complete type congenital stationary night blindness with and without myopia
Authors: Dry K. L. , van Dorp D. B. , Aldred M. A. , Brown J. , Hardwick L. J. , Wright A. F. 
Published: July 2010

Dry KL, Van Dorp DB, Aldred MA, Brown J, Hardwick LJ, Wright AF. Linkage analysis in a family with complete type congenital stationary night blindness with and without myopia.Clin Genet 1993: 43: 250–254. © Munksgaard, 1993A family is described with X‐linked congenital stationary night blindness of the complete type (CSNB1) in which clinical variation between affected males resulted in diagnostic difficulties. In two affected male cousins, one had congenital nystagmus and myopia, while the other was initially thought to have retinitis pigmentosa with optic atrophy and was hyperopic The diagnosis of X‐linked congenital stationary night blindness was established by clinical, psychophysical and electrophysiological criteria, and DNA markers flanking the CSNB1 locus were analysed in the family. The results show that both affected males have inherited the same haplotype from their carrier mothers, excluding the possibility that a myopia gene in linkage disequilibrium with CSNB1 has recombined with this locus.
Familial bilateral antecubital pterygia with severe renal involvement in nail‐patella syndrome
Authors: Rizzo R. , Pavone L. , Micali G. , Hall J. G. 
Published: July 2010

Rizzo R, Pavone L, Micali G, Hall JG. Familial bilateral antecubital pterygia with severe renal involvement in nail‐patella syndrome.Clin Genet 1993: 44: 1–7. © Munksgaard, 1993A family in whom several members are affected with nail‐patella dysplasia is reported because of severe renal involvement and bilateral antecubital pterygia. The family presented as arthrogryposis because of the elbow contractures.
Frequency of the ΔF508 and exon 11 mutations in Norwegian cystic fibrosis patients
Authors: Eiklid Kristin , Tranebjærg Lisbeth , Eiken Hans G. , Pedersen Jan C. , Michalsen Helge , Fluge Gjermund , Schwartz Marianne , Nilsen Bjørn R. , Bolle Roald , Skyberg Dag , Boman Helge , Berg Kare 
Published: July 2010

Eiklid K, Tranebjærg L, Eiken HG, Pedersen JC, Michalsen H, Fluge G, Schwartz M, Nilsen BR, Bolle R, Skyberg D, Boman H, Berg K. Frequency of the ΔF508 and exon 11 mutations in Norwegian cystic fibrosis patients.Clin Genet 1993: 44: 12–14. © Munksgaard, 1993We have searched for the ΔF508 mutation in 77 Norwegian cystic fibrosis patients. Of the 154 chromosomes tested, 93 (60%) carried the ΔF508 mutation. Haplotypes at the D7S23 locus (KM19 and XV2C markers) were determined. Of 81 chromosomes with the F508 mutation, the B haplotype was found on 77. We found three patients with the G551D and one patient with the R553X mutation in exon 11 of the CFTR locus.
Association of Shokeir syndrome (congenital universal alopecia, epilepsy, mental subnormality and pyorrhea) and giant pigmented nevus
Authors: Timár László , Czeizel Andrew E. , Koszó Péter 
Published: July 2010

Timár L, Czeizel AE, Koszó P. Association of Shokeir syndrome (congenital universal alopecia, epilepsy, mental subnormality and pyorrhea) and giant pigmented nevus.Clin Genet 1993: 44: 76–78. © Munksgaard, 1993The second case of Shokeir syndrome (congenital total permanent alopecia, psychomotor epilepsy, mental retardation and pyorrhea) is described in a Hungarian boy. This syndrome was associated with a giant pigmented nevus in this case.
Effect of the fragile X anomaly on body proportions estimated by pedigree analysis
Authors: Loesch Danuta Z. , Sampson Mark L. 
Published: July 2010

Loesch DZ, Sampson ML. Effect of the fragile X anomaly on body proportions estimated by pedigree analysis.Clin Genet 1993: 44: 82–88. © Munksgaard, 1993The purpose of this study was to determine the effect of the fragile X syndrome on limb (upper limb length) and facial (ear length) measurements in relation to body height, which was considered as a covariate. The analysis was performed in 52 fragile X Caucasian families, including affected individuals as well as their normal relatives. The maximum likelihood analysis of complex pedigrees, under the assumption of multivariate normality, was used to select the best genetic model and to estimate model parameters. This method allowed us to test various assumptions concerning the effect of normal hereditary variation, as well as of genetic anomaly and other relevant factors, in the mean and variance of a quantitative trait, and to obtain the maximum likelihood parameters for these effects. The results demonstrated that, if the family factor is accounted for in a model, the fragile X condition affects growth of both upper limb length and ear length, disproportionately to body height.
Application of molecular and cytogenetic techniques to the detection of a de novo unbalanced t(11q;21q) in a patient previously diagnosed as having monosomy 21
Authors: Hertz Birgitte , Brandt Carsten A. , Petersen Michael B. , Pedersen Søren , König Ulrich , Strømkjær Helle , Jensen Peter K. A. 
Published: July 2010

Hertz B, Brandt CA, Petersen MB, Pedersen S, König U, Strømkjær H, Jensen PKA. Application of molecular and cytogenetic techniques to the detection of a de novo unbalanced t(11q;21q) in a patient previously diagnosed as having monosomy 21.Clin Genet 1993: 44: 89–94. © Munksgaard, 1993The occurrence of complete autosomal monosomy in man is extremely rare and generally considered to be incompatible with life. Since the introduction of banding techniques in human cytogenetics, several cases of presumptive monosomy for chromosome 21 have nevertheless been reported. However, it has been suggested that most, if not all, of these cases may represent unbalanced translocations or other structural aberrations resulting in only partial monosomy 21. Here we describe a patient in whom full monosomy 21 was initially diagnosed by routine karyotyping. Re‐examination with a combination of high resolution banding technique, chromosome painting and DNA polymorphism analysis demonstrated the presence of an unbalanced translocation between the long arms of chromosome 11 and 21, respectively. Consequently, the case was re‐classified as a partial monosomy for the proximal long arm of chromosome 21.
Prenatal screening for cystic fibrosis: attitudes and responses of participants
Authors: Mennie Moira , Compton Mary , Gilfillan Annette , Axton R. A. , Liston W. A. , Pullen I. , Whyte Dorothy , Brock D. J. H. 
Published: July 2010

Mennie M, Compton M, Gilfillan A, Axton RA, Liston WA, Pullen I, Whyte D, Brock DJH. Prenatal screening for cystic fibrosis: attitudes and responses of participants.Clin Genet 1993: 44: 102–106. © Munksgaard, 1993A screening programme to detect cystic fibrosis heterozygotes has been running in the antenatal climes of a major Edinburgh maternity hospital for more than 2 years. A questionnaire was used to assess participants' knowledge of the genetics of the disorder and their attitudes to being screened. The respondents were 64 female heterozygotes and 63 of their non‐heterozygous male partners, 101 female controls and 100 male controls. Although the two groups of controls received far less direct information than the carriers and their partners, all four groups were well informed about the genetics of cystic fibrosis and the significance of being a gene carrier. A majority of each group felt that adequate information had been given in the information leaflet, that they understood the purpose of screening and that they were glad to have participated. There was a consensus that CF carrier testing should be routinely offered to pregnant women, and also that it should be available in family planning clinics and GP health centres, but not in schools.
Bilateral vocal cord paralysis in Williams syndrome
Authors: Stewart F. J. , Dalzell M. , McReid M. , Cinnamond M. J. 
Published: July 2010

Stewart FJ, Dalzell M, McReid M, Cinnamond MJ. Bilateral vocal cord paralysis in Williams syndrome.Clin Genet 1993: 44: 164–165. © Munksgaard, 1993Williams syndrome was first described in 1961 (Williams et al. 1961) and is a well‐recognised clinical syndrome characterised by growth deficiency, learning difficulties and a typical facies. We describe a 9‐year‐old girl with classical features of Williams syndrome who presented with acute vocal cord paralysis for which no other cause was found.