bluuebunny/crossref_metadata_2025_split huggingface dataset:
Three decades of follow‐up of aortic and pulmonary vascular lesions in the Williams‐Beuren syndrome
Authors: Wessel A. , Pankau R. , Kececioglu D. , Ruschewski W. , Bürsch J. H. 
Published: June 2005

AbstractThe diagnostic criteria of the Williams‐Beuren syndrome (WBS) were established almost 3 decades ago. Until now there has been little knowledge about the natural and post‐surgical history of vascular lesions in this syndrome. In order to evaluate the long term follow‐up of aortic and pulmonary vascular lesions, we have analysed the catheterization data, angiocardiograms, and Doppler‐echo measurements in 59 patients who were seen at least twice in our institution between 1961 and 1993. Their follow‐up periods ranged from 2.1 to 28.2 years. Of 45 patients with supravalvular aortic stenosis (SVAS) with a mean follow‐up period of 12.9 years, it became evident that pressure gradients of less than 20 mm Hg in infancy generally remained unchanged during the first two decades of life. Pressure gradients exceeding 20 mm Hg increased from an average of 35.5 mm Hg to 52.7 mm Hg in 13 patients. Of these, 8 required surgical relief of the narrowing. In 7 patients aortic hypoplasia was documented. In 5 of them the caliber of the aorta showed a tendency towards normalisation within a period of 11.9 to 23.9 years. Of 6 individuals with aortic hypoplasia and surgical relief of SVAS, 4 patients developed restenosis at the distal end of the aortoplasty patch. In contrast, 9 patients with operated SVAS—but without aortic hypoplasia—remained free of restenosis over a period of 11 years (mean). Coarctation occurred in 4/59 patients; restenosis was seen in 2 after 5 and 16 years. Peripheral pulmonary stenosis was followed in 23 patients over 14.4 years (mean). During this period the systolic pressure gradients fell from 23 to 9.3 mm Hg (mean). In adolescence and adulthood the gradients were below 20 mm Hg in 22/23 individuals.In WBS there is a good long‐term prognosis for SVAS if gradients during infancy are low. SVAS with gradients above 20 mm Hg tend to increase; 60% of them require surgical relief with good long‐term results. But aortic hypoplasia impairs the prognosis of operated SVAS, because restenosis may occur. Peripheral pulmonary stenosis generally shows a good long‐term prognosis. © 1994 Wiley‐Liss, Inc.
Diploid/triploid mosaicism: Further delineation of the phenotype
Authors: Carakushansky Gerson , Teich Evelyn , Ribeiro Marcia G. , Horowitz Dafne D. G. , Pellegrini Sandra 
Published: June 2005

AbstractHere we report on a girl with diploid/triploid mosaicism followed up to age 5 years. The clinical manifestations are compared to those of other reported cases. In contrast to most cases, our patient was not growth retarded despite severe delays in psychomotor development. We also discuss 2 manifestations that have not received sufficieent attention in previous reports: pigmentary dysplasia and truncal obesity. © 1994 Wiley‐Liss, Inc.
Pulmonary hyperplasia in the Fraser cryptophthalmos syndrome
Authors: Stevens Cathy A. , McClanahan Carolyn , Steck Audrey , Shiel Fergus O'M. , Carey John C. 
Published: June 2005

AbstractWe report on 2 sibs with the Fraser cryptophthalmos syndrome who had pulmonary hyperplasia and laryngeal stenosis. A third unrelated patient with Fraser syndrome had laryngeal stenosis, renal agenesis, and normal lung development, rather than the expected pulmonary hypoplasia. Three additional cases of pulmonary hyperplasia in the Fraser syndrome were ascertained from a review. In all of these cases the likely mechanism for pulmonary hyperplasia is retention of fetal lung fluid by laryngeal or tracheal obstruction. © 1994 Wiley‐Liss, Inc.
Familial total anomalous pulmonary venous return: A large Utah‐Idaho family
Authors: Bleyl Steven , Ruttenberg Herbert D. , Carey John C. , Ward Kenneth 
Published: June 2005

AbstractTotal anomalous pulmonary venous return (TAPVR) is a rare form of cyanotic congenital heart disease which, without surgical correction, has a high mortality rate in the first year of life. It usually occurs without a family history, and is generally thought to have a low recurrence risk. However, 15 instances of familial TAPVR have been reported previously, suggesting a genetic cause in some cases. We report on a large family in which TAPVR appears to be determined multifactorially or as an autosomal dominant trait with variable expressivity and reduced penetrance. © 1994 Wiley‐Liss, Inc.
Congenital hypotrichosis and milia: Report of a large family suggesting X‐linked dominant inheritance
Authors: Rapelanoro Rabenja , Taïeb Alain , Lacombe Didier 
Published: June 2005

AbstractWe report on a large family of four generations in which individuals have congenital hypotrichosis and multiple milia disappearing by adolescence. The propositus a 30‐month‐old boy, has coarse, sparse hair and multiple milia on face, chest, axillae and pubic region. At 16 years, his sister has apparently normal hair and few milia persisting on the forehead. The same symptoms were present in the mother from birth and disappeared at 40 years. There are no abnormalities of teeth and nails. Polarizing light microscopy shows an increased diameter of the hair shaft. The pedigree is compatible with an autosomal or an X‐linked dominant mode of inheritance. © 1994 Wiley‐Liss, Inc.
Detection of sex chromosomal aneuploidies X‐X, Y‐Y, and X‐Y in human sperm using two‐chromosome fluorescence in situ hybridization
Authors: Wyrobek Andrew J. , Robbins Wendie A. , Mehraein Yasmin , Pinkel Dan , Weier H.‐U. 
Published: June 2005

AbstractSex chromosome aneuploidy is the most common numerical chromosomal abnormality in humans at birth and a substantial portion of these abnormalities involve paternal chromosomes. An efficient method is presented for using air‐dried smears of human semen to detect the number of X and Y chromosomes in sperm chromatin using two‐chromosome fluorescence in situ hybridization. Air‐dried semen smears were pre‐treated with dithiothreitol and 3,4‐diio‐dosalicylate salt to decondense the sperm chromatin and then were hybridized with repetitive sequence DNA probes that had been generated by PCR and differentially labeled. Hybridizations with X and Y specific probes showed the expected ratio of 50%X:50%Y bearing sperm. Sperm carrying extra fluorescence domains representing disomy for the X or Y chromosomes occurred at frequencies of ∼4 per 10,000 sperm each. Cells carrying both X and Y fluorescence domains occurred at a frequency of ∼6/10,000. Thus, the overall frequency of sperm that carried an extra sex chromosome was 1.4/1,000. The frequencies of sperm carrying sex chromosome aneuploidies determined by hybridization did not differ statistically from those reported from the same laboratory using the human‐sperm/hamster‐egg cytogenetic technique. Multi‐chromosome fluorescence in situ hybridization to sperm is a promising method for assessing sex‐ratio alterations in human semen and for determining the fraction of sperm carrying sex or other chromosome aneuploidies which may be transmissible to offspring. © 1994 Wiley‐Liss, Inc.
Recurrence of diaphragmatic agenesis associated with multiple midline defects: Evidence for an autosomal gene regulating the midline
Authors: Bird Lynne M. , Newbury Robert O. , Ruiz‐Velasco Rodolfo , Jones Marilyn C. 
Published: June 2005

AbstractWe report the familial occurrence of diaphragmatic agenesis in association with other midline anomalies in a brother and sister. Opitz and Gilbert [Am J Med Genet 1982, 12:443–455] introduced the concept of the midline as a developmental field, and there have been reports of pedigrees compatible with the hypothesis of an X‐linked gene regulating the development of the mid‐line. This family suggests that an autosomal gene also contributes to the morphogenesis of midline structures. © 1994 Wiley‐Liss, Inc.
Possible protection against asthma in heterozygotes for familial Mediterranean fever
Authors: Brenner‐Ullman Adi , Melzer‐Ofir Hana , Daniels Maya , Shohat Mordechai 
Published: June 2005

AbstractTo identify a specific heterozygote advantage in familial Mediterranean fever (FMF), responsible for the high carrier rate of 1/6 in North African Jews, we studied the morbidity and mortality of 148 parents of affected patients and of 148 ethnically matched control persons. Our data demonstrate an apparently reduced prevalence of asthma in the heterozygotes compared with the control persons (3 vs. 6). There were no significant differences between the 2 groups in fertility rate, number of pregnancies and deliveries, or the prevalence of common diseases. Our data are in agreement with previous studies which demonstrated decreased asthma prevalence in FMF patients. If further confirmed, these findings suggest that identification of the FMF gene on 16p may provide an insight into asthma. © 1994 Wiley‐Liss, Inc.
Lethal Pallister‐Killian syndrome: Phenotypic similarity with Fryns syndrome
Authors: Rodríguez José Ignacio , Garcia Isabel , Alvarez Javier , Delicado Alicia , Palacios José 
Published: June 2005

AbstractThe Pallister‐Killian syndrome is a sporadic multiple congenital anomaly syndrome characterized by “coarse” face, profound mental retardation, and epilepsy. Chromosomes of peripheral lymphocytes are usually normal, but tissue cultures show varying degrees of mosaicism for iso‐chromosome 12p.In babies who die neonatally of severe malformations, including diaphragmatic hernia, and who also have a “coarse” face, acral hypoplasia, and other internal anomalies, Fryns syndrome is more likely to be suspected than Pallister‐Killian syndrome, especially if karyotyping is unavailable or if peripheral lymphocytes have a normal chromosome constitution.An initial diagnosis of Fryns syndrome had to be modified in 3 successive newborn infants since chromosome analysis or in situ hybridization with a chromosome 12 probe on kidney tissue demonstrated the mosaic aneuploidy characteristic of Pallister‐Killian syndrome. These 3 patients confirm that a similar pattern of malformations can be present in both conditions at birth. It consists of “coarse” face, acral hypoplasia, diaphragmatic hernia, and other defects. Newborn infants who present this pheno‐type, but lack a conclusively normal chromosome test, may not have Fryns syndrome. A diagnosis of Fryns syndrome should be made carefully to avoid the risk of inappropriate genetic counseling. © 1994 Wiley‐Liss, Inc.
Chorionic villus sampling and transverse limb deficiencies: Maternal age is not a confounder
Authors: Mastroiacovo Pierpaolo , Botto Lorenzo D. 
Published: June 2005

AbstractAdvanced maternal age is a frequent indication for performing chorionic villus sampling (CVS) and it might be a confounder of the association between transverse limb deficiencies (TLD) and early CVS. We have first analyzed the maternal age‐specific rates of TLD in the population monitored by the Italian Multicentric Birth Registry; then we updated a case control study controlling for maternal age. The rate of all limb deficiencies (LD) was 5.9 per 10,000 births. No trend for an excess risk for TLD or other LD with advancing maternal age was found. The relative risk for women 35 years of age and older vs. those under 35 was 0.92 (95% CI, 0.72–1.19) for any LD and 0.99 (95% CI, 0.71–1.39) for TLD. In the case control study, 11 mothers of case patients with a TLD had been exposed to CVS out of a total of 206 (5.3%), compared to 54 mothers of control patients with defects other than TLD out of a total of 12,140 (0.4%). The risk estimate for TLD associated with CVS was high in the overall analysis (OR, 12.63) and did not decrease after stratification, both in the overall sample (Mantel‐Haenszel OR, 14.01) and in each gestational age stratum.Thus, advanced maternal age does not explain the association between CVS and TLD found in this study and it is unlikely to explain that observed in the several other positive studies. We recommend that any study addressing the relationship between CVS and LD should include a careful evaluation of the type of LD and the timing of CVS, and present the results for specific gestational age periods. © 1994 Wiley‐Liss, Inc.
Deformations in infants of diabetic and control pregnancies
Authors: Van Allen Margot I. , Brown Zane A. , Plovie Barbara , Hanson Mary Lou , Knopp Robert H. 
Published: June 2005

AbstractSevere and mild deformations in newborn infants of insulin dependent diabetic mothers (IDDMs) and control mothers were evaluated with respect to the types of anomalies and previously hypothesized constraint factors. Factors evaluated were gestational length, birth weight, corrected birth weight for gestation (weight ratio), maternal height and parity, and severe deformations. Newborn infants from 81 control and 133 insulin dependent diabetic pregnancies were recruited periconceptually as part of a larger study of diabetes in early pregnancy. Examinations were done at 48 to 72 hours of life by one examiner blinded to maternal status using a checklist of major and minor deformations and malformations.Mild deformations were found to be common and were present in 84% of newborn infants. Severe deformations occurred in three (1.4%) IDMs, with two of three newborn infants having major malformations involving the CNS and/or musculoskeletal system which affected fetal movement. There was no significant difference between IDMs and control newborn infants with respect to the number with deformations; however, fetal macrosomia was not present in study participants. Using the entire cohort, a significantly greater number of deformations were present in newborn infants with a gestation >36 weeks (P < 0.001), birth weight >3,000 g (P < 0.001), and weight ratio ⩾1.2 (P = 0.05). There was no significant association with primiparous mothers or women with a height <165 cm and the presence of deformations. For gestational age and birth weight, mild deformations were apparent only after 33 weeks gestation (P ≪ 0.001) and/or birth weights of 2.0 kg or more (P ≪ 0.001). Infants with four or more deformations were more likely to have major malformations (P < 0.05).In summary, in this study the constraint factors determined to be important in the development of mild deformations are gestational length, birth weight and birth weight corrected for gestational length (weight ratio), and severe deformations affecting the neurological and/or musculoskeletal systems. Severe deformations occur more frequently in association with major malformations which affect fetal movement. In IDDM pregnancies, an increase in deformations can be expected with major malformations or with macrosomia Should it occur. © 1994 Wiley‐Liss, Inc.
De novo translocation involving chromosomes 1 and 4 resulting in partial duplication of 4q and partial deletion of 1p
Authors: Legare Janet M. , Sekhon Gurbax S. , Laxova Renata 
Published: June 2005

AbstractWe describe an infant boy with a unique de novo translocation involving chromosomes 1 and 4, resulting in dup(4q) and del(1p). His karyotype was 46,XY,−l,+der(1)t(1;4) (p36.2;q31.2). He had minor anomalies, congenital heart defect, respiratory distress, seizures, and central nervous system abnormalities. He died at age 11 weeks. The patient had manifestations of dup(4q) del(1p), and he was more seriously affected than patients having only one of these. No other patient with an identical chromosomal finding has been reported. © 1994 Wiley‐Liss, Inc.
Child with oral, facial, digital, and skeletal anomalies and psychomotor delay: A new ofds form?
Authors: Gabrielli Orazio , Ficcadenti Anna , Fabrizzi Giancarlo , Perri Paolo , Mercuri Antonio , Coppa Giovanni V. , Giorgi Pierluigi 
Published: June 2005

AbstractWe report on a male infant with oral, facial, digital, and skeletal anomalies in association with severe psychomotor delay. This may represent a new oral‐facial‐digital syndrome. © 1994 Wiley‐Liss, Inc.
18q− and 18q+ mosaicism in a mentally retarded boy
Authors: Ausems Margreet G. E. M. , Bhola Shama L. , Post‐Blok Cornelie A. , Hennekam Raoul C. M. , de France Henny F. 
Published: June 2005

AbstractA mentally retarded boy was found to have an unusual chromosomal mosaicism [46,XY, del(18) (q22)/46,XY,iso psu dic(18)(q23)]. The clinical manifestations are compatible with the 18q− syndrome. The chromosome alteration was denned by high resolution banding and fluorescence in situ hybridization (FISH). A mechanism to explain the origin of the two cell lines is presented and discussed. © 1994 Wiley‐Liss, Inc.
Ascertainment models incorporating effects of variable age of onset
Authors: Dawson Deborah V. 
Published: June 2005

AbstractIn pedigree analysis, nonrandom sampling, or ascertainment through affected persons, occurs commonly, making it necessary to adjust appropriately for the ascertainment procedure in order to secure the correct interpretation of results from genetic analysis. Ascertainment models for dichotomous phenotypes are considered for disorders characterized by variable age of onset, particularly considering those instances where the probability of ascertainment may be influenced by the age of onset of the disorder. For a variety of theoretical and practical reasons, sigmoidal functions appear to be well suited to the modeling of occurrence of a binary event, such as proband status. Relevant ascertainment models incorporating a modified exponential ascertainment function having such a sigmoidal form are described, together with associated modifications to the likelihood for the ascertained pedigree. Alternative parameterizations and methods for obtaining initial estimates are also discussed. © 1994 Wiley‐Liss, Inc.
Submicroscopic deletion of chromosome region 16p13.3 in a Japanese patient with Rubinstein‐Taybi syndrome
Authors: Masuno Mitsuo , Imaizumi Kiyoshi , Kurosawa Kenji , Makita Yoshio , Petrij Fred , Dauwerse Hans G. , Breuning Martijn H. , Kuroki Yoshikazu 
Published: June 2005

AbstractIn a series of 25 Japanese patients with Rubinstein‐Taybi syndrome, we screened, by high‐resolution GTG banding and fluorescence in situ hybridization of a cosmid probe (RT1, D16S237), for microdeletions associated with this syndrome. In one patient, a microdeletion was demonstrated by in situ hybridization, but none were detected by high‐resolution banding. © 1994 Wiley‐Liss, Inc.
Search for mutations in the β1 GABAA receptor subunit gene in patients with schizophrenia
Authors: Coon Hilary , Sobell Janet , Heston Leonard , Sommer Steve , Hoff Mark , Holik John , Umar Farah , Robertson Margaret , Reimherr Fred , Wender Paul , Vest Kevin , Myles‐Worsley Marina , Gershon Elliot S. , DeLisi Lynn E. , Shields Gail , Dale Paul W. , Polloi Anthony , Waldo Merilyne , Leonard Sherry , Sikela James , Freedman Robert , Byerley William 
Published: June 2005

AbstractAs alterations in GABAergic neurotransmission have been indirectly implicated in the pathogenetics of schizophrenia, GABAA receptor subunit genes are plausible candidate genes for the illness. We undertook a search for sequence variations in the coding region of β1 subunit gene by designing intron‐based primers to amplify its 9 exons. Using single strand conformation polymorphism (SSCP) analysis, we found an exon 9 variant present in 3 of 86 unrelated schizophrenic cases derived from families having at least 2 first degree relatives with schizophrenia. Direct sequencing of the SSCP variant revealed a C→G nucleotide transversion at codon 396 predicting a histidine to glutamine substitution in the β1 peptide. The predicted amino acid substitution occurs at a highly conserved site, 9 residues from a cAMP‐dependent serine phosphorylation consensus sequence. All known GABAA β1 subunit genes including human, bovine, and rat, code for histidine at position 396. Although the variant cosegregated with disease in a family with 2 affected sibs, it was only transmitted to 2 of 3 affected sibs in a multiplex family. The variant was not found in an additional sample comprising 155 unrelated schizophrenics and the sequence variant was present at a low frequency (∼1.1%) in control groups. Although these results indicate that the sequence variant is likely to be a natural polymorphism, it is possible that the variant may be a predisposing allele in rare instances. It is also possible that the variant may change the function or regulation of the GABAA receptor complex and it may be of pharmacogenetic relevance. © 1994 Wiley‐Liss, Inc.
Search for a schizophrenia susceptibility locus on human chromosome 22
Authors: Polymeropoulos Mihael H. , Coon Hilary , Byerley William , Gershon Elliot S. , Goldin Lynn , Crow Timothy J. , Rubenstein Jeffrey , Hoff Mark , Holik John , Smith Angela M. , Shields Gail , Bass Nicholas J. , Poulter Mark , Lofthouse Ray , Vita Antonio , Morganti Carla , Merril Carl R. , Delisi Lynn E. 
Published: June 2005

AbstractWe used 10 highly informative DNA polymorphic markers and genetic linkage analysis to examine whether a gene locus predisposing to schizophrenia is located on chromosome 22, in 105 families with schizophrenia and schizoaffective disorder. The LOD score method, including analysis for heterogeneity, provided no conclusive evidence of linkage under a dominant, recessive, or penetrance free model of inheritance. Affected sib‐pair analysis was inconclusive. Affected pedigree member analysis gave only suggestive evidence for linkage. Multipoint APM analysis, using 4 adjacent loci including D22S281 and IL2RB, a region of interest from the APM analysis, gave non‐significant results for the three different weighting functions. © 1994 Wiley‐Liss, Inc.
Velo‐cardio‐facial syndrome and psychotic disorders: Implications for psychiatric genetics
Authors: Chow Eva W. C. , Bassett Anne S. , Weksberg Rosanna 
Published: June 2005

AbstractPsychiatric disorders have been reported in over 10% of patients with velo‐cardio‐facial syndrome (VCFS) in long‐term follow‐up. To further explore the behavioral and psychiatric findings associated with VCFS in adulthood, detailed clinical histories of two patients—one with VCFS who developed a psychotic illness, and one with schizophrenia who was found to have dysmorphological features associated with VCFS—are described in the current report. The observed overlap of physical and psychiatric symptoms in these two patients suggests that VCFS and psychotic disorders may share a pathogenetic mechanism. This could be consistent with a contiguous gene model for VCFS and psychosis, suggesting chromosome 22q11 as a possible candidate region for genetic studies of schizophrenia. © 1994 Wiley‐Liss, Inc.
Search for linkage to schizophrenia on the X and Y chromosomes
Authors: DeLisi Lynn E. , Devoto Marcella , Lofthouse Raymond , Poulter Mark , Smith Angela , Shields Gail , Bass Nick , Chen Gang , Vita Antonio , Morganti Carla , Ott Jurg , Crow Timothy J. 
Published: June 2005

AbstractMarkers for X chromosome loci were used in linkage studies of a large group of small families (n = 126) with at least two schizophrenic members in one sibship. Based on the hypothesis that a gene for schizophrenia could be X‐Y linked, with homologous loci on both X and Y, our analyses included all families regardless of the pattern of familial inheritance. Lod scores were computed with both standard X‐linked and a novel X‐Y model, and sibpair analyses were performed for all markers examining the sharing of maternal alleles. Small positive lod scores were obtained for loci pericentromeric, from Xp11.4 to Xq12. Lod scores were also computed separately in families selected for evidence of maternal inheritance and absence of male to male transmission of psychosis. The lod score for linkage to the locus DXS7 reached a maximum of 1.83 at 0.08% recombination, assuming dominant inheritance on the X chromosome in these families (n = 34). Further investigation of the X‐Y homologous gene hypothesis focussing on this region is warranted. © 1994 Wiley‐Liss, Inc.