bluuebunny/crossref_metadata_2025_split huggingface dataset:
Prevalence of fra(X) in the county of Funen in Denmark is lower than expected
Authors: Tranebjaerg L. , Hilling S. , Jessen J. , Lind D. , Hansen M. S. 
Published: June 2005

AbstractPopulation based cytogenetic fra(X) surveys have not previously been reported from Denmark. In the present study we present an estimate of fra(X) based on 1) information from the Danish Central Cytogenetic Registry of diagnosed fra(X) males of all age groups in all Denmark in the period 1980–1992 and 2) a systematic cytogenetic fra(X) survey of 175 of 8–10‐year‐old children with special educational needs resident in a defined, demographically representative area of Denmark (the county of Funen). The study was performed in 1988‐90 before the cloning of the FMR‐1 gene. In the county of Funen there were 7,837 male children in the age group of 8‐10 years. In the cytogenetic survey of learning disabled children, no fra(X) positive was diagnosed.There were 99 registered males with fra(X) in all Denmark, equivalent to a prevalence of 0.04 per 1,000 males (confidence interval 0.032:1,000–0.048:1,000).Molecular fra(X) surveys of different, large populations are needed in order to estimate the frequency of fra(X) and clarify whether significant differences in prevalence exist in different populations. © 1994 Wiley‐Liss, Inc.
Butyrate and acetyl‐carnitine inhibit the cytogenetic expression of the fragile X in vitro
Authors: Pomponi Maria Grazia , Neri Giovanni 
Published: June 2005

AbstractCytogenetic expression of the fragile site at Xq27.3 is only found in those patients who have a full mutation of the FMR1 gene, i.e., a large amplification of the CGG repeat. However, an expansion of this repeat, although necessary, does not seem to be sufficient to cause expression of fra (X)(q27.3). Other factors are clearly needed, e.g., thymidylate stress. Little or no attention has been paid to the possible role of histones in the expression of the fragile sites, in spite of their structural and regulatory role in the chromatin complex. Histones can be modified by treating intact cells in vitro with butyrate, a substance that causes histone acetylation. The purpose of the present work is to test the effect of butyrate and of the acetylating compound acetyl‐L‐carnitine on the expression of fra (X)(q27.3) by treating peripheral lymphocytes of fragile X syndrome patients with these substances in vitro. we show that this treatment causes a significant inhibition of fra (X)(q27.3) expression. © 1994 Wiley‐Liss, Inc.
Comparison between the cytogenetic test for fragile X and the molecular analysis of the FMR‐1 gene in Japanese mentally retarded individuals
Authors: Hofstee Yvonne , Arinami Tadao , Hamaguchi Hideo 
Published: June 2005

AbstractThe prevalence of the fragile X syndrome has been estimated by the results of population studies in which the disease was mostly diagnosed by cytogenetic examinations. To examine the reliability of the cytogenetic analysis for the estimation of the prevalence of the fragile X syndrome, the CGG repeat in the FMR‐1 gene was assayed by Southern blot hybridization and polymerase chain reaction (PCR) in an institutionalized group of mentally retarded individuals consisting of 305 males and 129 females. The data thus obtained were compared with the cytogenetic data. The DNA analysis detected 7 full mutations among the alleles of the 296 unrelated males and 2 full mutations among the alleles of the 129 unrelated females. These findings were consistent with the cytogenetic data. No premutation was found in 554 X chromosomes in the unrelated mentally retarded patients nor 826 X chromosomes in unrelated control individuals. The distribution of the CGG repeat number in the normal range was not significantly different between the mentally retarded individuals and the control individuals. These data suggest that the estimates of the prevalence of the fragile X syndrome based on cytogenetic data in the population studies are almost reliable. Based on the finding that no premutations were found in this study, a small difference in the prevalence of the fragile X syndrome between Caucasians and Japanese is suggested. © 1994 Wiley‐Liss, Inc.
Fraxa locus in fragile X diagnosis: Family studies, prenatal diagnosis, and diagnosis of sporadic cases of mental retardation
Authors: von Koskull Harriet , Gahmberg Nina , Salonen Riitta , Salo Armi , Peippo Maarit 
Published: June 2005

AbstractThree hundred eighty‐seven individuals from 32 Finnish fragile X families were studied, using the probe StB12.3 [Oberlé et al., 1991: Science 252:1097–1102] for the FRAXA locus, to reveal length variations in the FMR‐1 gene. As expected, the affected individuals (with few exceptions) showed a full mutation; a few affected individuals with a premutation only were found. Seventy percent of the females with a full mutation were affected. The size of the mutation remained unchanged in 6, increased in 73, and decreased in 6 female meioses. In male meioses the size was unchanged in 15 cases, increased in 2 cases, and decreased in 1 case. Prenatal diagnosis was performed in 20 cases. In 7 of these the mutation was inherited by the fetus. Four hundred sixty‐four mentally retarded patients were referred to us for FRAXA analysis. In 5% of these the fragile X mutation was found. In addition to the clear cut negative or positive results there were 6 cases in which an increase of 50–80 bp was detected. These findings may represent either large normal alleles or small premutations suggesting a possible tissue mosaicism which could explain the retardation of the patients. © 1994 Wiley‐Liss, Inc.
Prenatal diagnosis in known fragile X carriers
Authors: Maddalena Anne , Hicks Belynda D. , Spence W. Christine , Levinson Gene , Howard‐Peebles Patricia N. 
Published: June 2005

AbstractPrenatal diagnosis for fragile X syndrome was performed in 34 pregnancies of 33 known carriers, on 22 chorionic villus samples (CVS), and 15 amniocentesis samples. Fetal and maternal DNA were analyzed by the EagI/EcoRI Southern blot of Rousseau et al. [1991: N Engl J Med 325:1673–1681], with detection of full mutations ensured by a second loading with brief electrophoresis. As a supplemental assay for full mutations, cytogenetic induction was performed in 20 cases. Positive cytogenetic results were helpful in confirming full mutations in CVS cases where the fetal DNA was intermediate in appearance, between a large premutation and a small full mutation. Of 8 mothers with full mutations, the fetal results were 5 full, 2 normal, and 1 premutation (whose mother was a full/pre compound heterozygote). Of 26 mothers with premutations, the fetal results were 5 full, 13 normal, 7 premutation, and 1 uninterpretable (maternal contamination). Maternal premutations were sized in kb by Southern blot and in CGG repeat number by PCR; the predicted correlation between maternal length and penetrance was seen. Follow‐up studies include 3 full mutations and 2 premutations confirmed by DNA analysis at birth. Maternal contamination of CVS samples was encountered in 3 of 22 cases, illustrating the value of EagI in detecting maternal (lyonized) chromosomes. © 1994 Wiley‐Liss, Inc.
Mosaicism in fragile X affected males
Authors: Nolin Sarah L. , Glicksman Anne , Houck George E. , Brown W. Ted , Dobkin Carl S. 
Published: June 2005

AbstractFragile X affected males have an expansion of a CGG repeat and a hypermethylated CpG island 5′ to the FMR‐1 gene. Mosaic males with both a premutation and full mutation have been noted among the affected individuals. Such mosaic males are most easily identified by the presence of a methylated restriction fragment characteristic of the full mutation and an additional unmethylated fragment in the premutation range in Southern analyses with EcoR I and the methylation‐sensitive enzyme Eag I and a probe such as StB12.3. We analyzed a group of affected fragile X males by Southern blotting and found 41% (61/148) to be mosaic. The 148 individuals were divided between 36 pairs of brothers and 76 unrelated males. Little difference in the number of mosaics was seen between the brothers and the unrelated males nor was the expected distribution of mosaicism in brother pairs different from observed. Thus, these data do not suggest a familial basis for mosaicism. Our observation that 41% affected fragile X males were mosaic is significantly higher than previous reports. The difference is likely due to technical modifications which permitted the identification of faint premutation bands in some patients. The high percentage of affected males with mosaicism seen here suggests that the occurrence of such individuals may be a much more frequent event than presently recognized. © 1994 Wiley‐Liss, Inc.
Conservation of CGG region in FMR1 gene in mammals
Authors: Deelen Wout , Bakker Cathy , Halley Dicky J. J. , Oostra Ben A. 
Published: June 2005

AbstractOnly two of the fragile sites found in humans (FRAXA and FRAXE) have been associated with a clinical phenotype. In mentally retarded individuals with cytogenetic expression of FRAXA a CGG repeat in the FMR1 gene is amplified. Fragile sites are found in many animal species. We have analyzed the FRAXA region containing the CGG repeat in several different species by PCR amplification. In most mammals this region could be amplified; the number of copies of the repeat is deduced. © 1994 Wiley‐Liss, Inc.
Towards identification of X‐linked mental retardation genes: A proposal
Authors: Mandel J. L. 
Published: June 2005

AbstractIdentification of X linked mental retardation (XLMR) genes that can only be broadly localised by linkage analysis will ultimately depend on systematic screening of many probands for mutations in many candidate genes. This would be more efficiently performed by analysis of mRNA (or illegitimate transcripts) by reverse transcriptase‐polymerase chain reaction (RT‐PCR). A scheme is proposed that associates standardized reporting of XLMR families, including small families that would not by themselves yield statistically significant linkage information, and deposit of a lymphoblastoid cell line for one proband of each family to an accessible repository. © 1994 Wiley‐Liss, Inc.
Arylsulfatase a psedodeficiency: A common polymorphism which is associated with a unique haplotype
Authors: Zlotogora Joël , Furman‐Shaharabani Yael , Goldenfum Sandra , Winchester Bryan , Figura Kurt Von , Gieselmann Volkmar 
Published: June 2005

AbstractThe allele for pseudodeficiency (PD) of the lysosomal enzyme arylsulfatase A (ARSA) is a common polymorphism in all populations. The PD allele frequency in different Israeli ethnic groups was found to range from 9.2–22.7%. The PD allele includes two different mutations PD (1) and PD (2) in an aproximatively 1 Kb interval. In this study we confirmed that while PD (1) may be found alone as a polymorphism, PD (2) is always associated with the PD allele (660 alleles screened). Analysis of three ARSA intragenic polymorphisms showed a complete linkage disequilibrium between the PD allele and an haplotype defined by the three polymorphic restriction sites. The results suggest that the origin of the PD polymorphism may be a common founder, or recurrent mutations which are occurring in a unique haplotype. © 1994 Wiley‐Liss, Inc.
Molecular and clinical study of 61 Angelman syndrome patients
Authors: Saitoh Shinji , Harada Naoki , Jinno Yoshihiro , Hashimoto Katsuyo , Imaizumi Kiyoshi , Kuroki Yoshikazu , Fukushima Yohimitsu , Sugimoto Tateo , Renedo Mónica , Wagstaff Joseph , Lalande Marc , Mutirangura Apiwat , Kuwano Akira , Ledbetter David H. , Niikawa Norio 
Published: June 2005

AbstractWe analyzed 61 Angelman syndrome (AS) patients by cytogenetic and molecular techniques. On the basis of molecular findings, the patients were classified into the following 4 groups: familial cases without deletion, familial cases with submicroscopic deletion, sporadic cases with deletion, and sporadic cases without deletion. Among 53 sporadic cases, 37 (70%) had molecular deletion which commonly extended from D15S9 to D15S12, although not all deletions were identical. Of 8 familial cases, 3 sibs from one family had a molecular deletion involving only 2 loci, D15S10 and GABRB3, which define the critical region for AS phenotypes. The parental origin of deletion, both in sporadic and familial cases, was exclusively maternal and consistent with a genomic imprinting hypothesis. Among sporadic and familial cases without deletion, no uniparental disomy was found and most of them were shown to inherit chromosomes 15 from both parents (biparental inheritance). A discrepancy between cytogenetic and molecular deletion was observed in 14 (26%) of 53 patients in whom cytogenetic analysis could be performed. Ten (43%) of 23 patients with a normal karyotype showed a molecular deletion, and 4 (13%) of 30 patients with cytogenetic deletion, del(15) (q11q13), showed no molecular deletion. Most clinical manifestations, including neurological signs and facial characteristics, were not distinct in each group except for hypopigmentation of skin or hair. Familial cases with submicroscopic deletion were not associated with hypopigmentation. These findings suggested that a gene for hypopigmentation is located is located outside the critical region of AS and is not imprinted. © 1994 Wiley‐Liss, Inc.
Knobloch syndrome in a large Brazilian consanguineous family: Confirmation of autosomal recessive inheritance
Authors: Passos‐Bueno M. Rita , Marie Suely K. , Monteiro Mario , Neustein Isaac , Whittle Martin R. , Vainzof Mariz , Zatz Mayana 
Published: June 2005

AbstractKnobloch syndrome is a rare genetic disorder characterized by high myopia, vitreoretinal degeneration with retinal detachment and occipital cephalocele. The inheritance has been described as autosomal recessive (AR) but in addition to the original report with 5 affected patients [Knobloch and Layer, 1971] only one other family with 2 affected sibs has been described [Czeizel et al., 1992]. We have studied a large consanguineous kindred in which there are 12 patients with severe ocular alterations associated with a congenital occipital encephalocele, compatible with the diagnosis of Knobloch syndrome. CT scan and MRI performed in one of the patients, allowed a better understanding of the cranial and ocular alterations in this syndrome. The pattern of occurrence in this highly inbred family clearly confirms autosomal recessive inheritance of Knobloch syndrome. © 1994 Wiley‐Liss, Inc.
Apparent genetic homogeneity of the treacher Collins‐Franceschetti syndrome
Authors: Edery Patrick , Manach Yves , Le Merrer Martine , Till Marianne , Vignal Alain , Lyonnet Stanislas , Munnich Arnold 
Published: June 2005

AbstractThe Treacher Collins‐Franceschetti syndrome (TCOF) or mandibulofacial dysostosis (MFD) is an autosomal dominant disorder characterized by craniofacial abnormalities and hearing loss. A refined genetic linkage map of the TCOF locus was established in 8 independent families, using 12 microsatellite DNA markers of the distal 5q. Positive lod score values were obtained for all markers with a maximum at the D5S413 locus (Zmax = 3.79 at θ = 0%). Multipoint linkage analysis and haplotype analysis supported the location of the gene between loci D5S434 and D5S412. These results are consistent with previous linkage analysis [Dixon et al.: Am J Hum Genet 49:17–22, 1991, Am J Hum Genet 52:907–914, 1993; Jabs et al.: Genomics 11:193–198, 1991, Genomics 18:7–13, 1993] and provide further evidence of genetic homogeneity in this syndrome. © 1994 Wiley‐Liss, Inc.
Additional case of female monozygotic twins discordant for the clinical manifestations of Duchenne muscular dystrophy due to opposite X‐chromosome inactivation
Authors: Abbadi N. , Philippe C. , Chery M. , Gilgenkrantz H. , Tome F. , Collin H. , Theau D. , Recan D. , Broux O. , Fardeau M. , Kaplan J.‐C. , Gilgenkrantz S. 
Published: June 2005

AbstractA pair of female monozygotic (MZ) twins, heterozygous carriers for a deletion in the DMD gene and discordant for the clinical manifestations of Duchenne muscular dystrophy, were analyzed by molecular studies, in situ hybridization, and methylation pattern of X chromosomes to search for opposite X inactivation as an explanation of their clinical discordance. Results in lymphocytes and skin fibroblast cell lines suggest a partial mirror inactivation with the normal X chromosome preferentially active in the unaffected twin, and the maternal deleted X chromosome preferentially active in the affected twin. A review shows that MZ female twins discordant for X‐linked diseases are not uncommon. Twinning and X inactivation may be interrelated and could explain the female twins discordant for X‐linked traits. © 1994 Wiley‐Liss, Inc.
Discordant infantile encephalopathy with symmetrical thalamic calcifications in identical twins
Authors: van der Knaap M. S. , Barth P. G. 
Published: June 2005

AbstractConnatal thalamic calcifications in apparently uneventful pregnancies have been described in various case reports and in a single report in two sibs. On the other hand, this lesion is known to occur after a hypoxicischemic accident in the immature brain. In the present report infantile encephalopathy with symmetrical thalamic calcifications is observed in one sib of a monozygous twin pair. This observation adds to the evidence that the condition is acquired, most probably on the basis of hypoxia‐ischemia, and provides strong evidence against autosomal‐recessive inheritance. © 1994 Wiley‐Liss, Inc.
Linguistic abilities in children with Williams‐Beuren syndrome
Authors: Gosch Angela , Städing Gabriele , Pankau Rainer 
Published: June 2005

AbstractIn recent studies children with Williams‐Beuren syndrome (WBS) have been characterized as having a distinct neuropsychological profile with verbal abilities being superior to visuo‐spatial and motor skills. An unusual command of language, including excessive use of verbal stereotypes, social phrases, and clichés has been noticed.The aim of this study is to establish whether the quality and quantity of verbal behavior, and the articulation and tonal quality of the voices of children with WBS differ from other children with nonspecific developmental disabilities.A group of 25 children with WBS and a control group of 25 children matched for age (4–10 years), sex (12 girls; 13 boys), and nonverbal reasoning abilities (mean IQ = 79) were investigated. The Heidelberg Language Development Test and a picture story were administered. The mothers were asked to answer a questionnaire to assess the articulation and the vocal characteristics of their children.The results show that children with WB syndrome do not differ in most qualitative and quantitative tasks with regard to verbal competence. They produce significantly more correct plural‐singular formations than the control children (t = 2.49, P < 0.01) on a primitive level of grammatical competence.In general, their articulation was reported to be more exact and clear (t = −2.73, P < 0.006). More mothers of children with WBS noticed a production of stereotypes, the use of social phrases, and clichés than did mothers of the control children (Chi square = −6.67 P < 0.005). Children with WBS were less likely to lisp as compared to the control children (Chi square = 2.08, P = 0.074).Finally, the voices of the children with WBS were judged to be deeper, hoarse, and “rough” than the voices of the control children. © 1994 Wiley‐Liss, Inc.
Syndrome of hypoparathyroidism, growth hormone deficiency, and multiple minor anomalies
Authors: Marsden Deborah , Nyhan William L. , Sakati Nadia O. 
Published: June 2005

AbstractA 5 1/2‐year‐old Saudi Arabian girl presented with a syndrome of intrauterine growth retardation, minor anomalies, hypoparathyroidism, and growth hormone deficiency. She was the product of a consanguineous mating. Her minor anomalies and delayed development were similar to findings in a previously reported Saudi Arabian patients with hypoparathyroidism and growth deficiency. There were substantial differences in findings from a series of Kuwaiti children. Parathyroid hormone was undetectable, but the renal response to infused parathyroid hormone was normal, indicating primary hypoparathyroidism. In response to arginine stimulation, her GH rose to 5.8 ng/ml (5.8 μg/L) (nl > 10), and to 2.3 ng/ml (2.3 μg/L) after L‐dopa. Following clonidine it rose to 15 ng/ml (15 μg/L) at 120 minutes. She responded normally to infusions of GHRH (GH rose to 22 ng/ml (22 μg/L) at 75 minutes) and TRH (TSH rose to 37 μu/ml, 37 mlU/L). On treatment with recombinant human growth hormone, she showed an increase in height and weight. Hypocalcemia was well controlled with supplemental 1‐α‐cholecalciferol. © 1994 Wiley‐Liss, Inc.
Direct and inverted reciprocal chromosome insertions between chromosomes 7 and 14 in a woman with recurrent miscarriages
Authors: Wang Ying‐Tai , Bajalica Svetlana , Han Fei‐Yu , Wang Zhao‐Cai , Bui The‐Hung , Xie Ya‐Gang 
Published: June 2005

AbstractWe present the first case of direct and inverted reciprocal chromosome insertions between human chromosomes 7 and 14, ascertained because of repeated spontaneous abortions. Prometaphase GTG banding analysis showed the karyotype to be 46, XX, inv ins (7;14)(7pter→7q11.23::14q32.2→14q22::7q21.2→7qter), dir ins(14;7)(14pter→14q22::7q11.23→7q21.2::14q32.2→14qter). Origins of the insertion have been confirmed by chromosome painting with libraries specific for chromosomes 7 and 14 using fluorescence in situ hybridization. © 1994 Wiley‐Liss, Inc.
Genetics of the Costello syndrome
Authors: Lurie Iosif W. 
Published: June 2005

AbstractAlthough Costello syndrome is considered to be an autosomal recessive disorder, review of 20 families demonstrated that the 37 sibs of the probands were all normal. In 6 families on whom pedigrees were not available, 2 affected sib‐pairs were born. Even if there were no normal offspring in these latter families, the occurrence of the Costello syndrome in only 2 of 39 sibs virtually excludes an autosomal recessive inheritance pattern (P = 0.999). Moreover, a significant increase of mean paternal age (38.0 yr) and paternal‐maternal age difference (7.36 yr) suggests sporadic autosomal dominant mutations as a likely cause. The 2 reported cases of affected sibs born to healthy parents may be explained by gonadal mosaicism, although heterogeneity with a small proportion of recessively inherited cases cannot be excluded. © 1994 Wiley‐Liss, Inc.
Ancient, highly polymorphic human major histocompatibility complex DQA1 intron sequences
Authors: McGinnis Malcolm D. , Lebo Roger V. , Quinn David L. , Simons Malcolm J. 
Published: June 2005

AbstractA 438 basepair intron 1 sequence adjacent to exon 2 in the human major histocompatibility complex DQA1 gene defined 16 allelic variants in 69 individuals from wide ethnic backgrounds. In contrast, the most variable coding region spanned by the 247 basepair exon 2 defined 11 allelic variants. Our phylogenetic human intron 1 tree derived by the Bootstrap algorithm reflects the same relative allelic relationships as the reported DQA1 exon 2 tree [Gyllensten and Erlich, Hum Immunol 36:1–10, 1989]. Thus 3′ DQA1 intron 1 and exon 2 have cosegregated since divergence of the human races. Comparison of human alleles to a Rhesus monkey DQA1 first intron sequence found only 10 nucleotide substitutions unique to Rhesus, with the other 428 positions (98%) found in at least one human allele. This high degree of homology reflects the evolutionary stability of intron sequences since these two species diverged over 20 million years ago. Because more intron 1 alleles exist than exon 2 alleles, these polymorphic introns can be used to improve tissue typing for transplantation, paternity testing, and forensics and to derive more complete phylogenetic trees. These results suggest that introns represent a previously underutilized polymorphic resource. © 1994 Wiley‐Liss, Inc.