bluuebunny/crossref_metadata_2025_split huggingface dataset:
Albright hereditary osteodystrophy and del(2)(q37.3) in four unrelated individuals
Authors: Phelan Mary C. , Rogers R. Curtis , Clarkson Kate B. , Bowyer Frank P. , Levine Michael A. , Estabrooks Laurel L. , Severson Michael C. , Dobyns William B. 
Published: June 2005

AbstractAlbright hereditary osteodystrophy (AHO) is a condition with characteristic physical findings (short stature, obesity, round face, brachydactyly) but variable biochemical changes (pseudohypoparathyroidism, pseudopseudohypoparathyroidism). Most patients with AHO have decreased activity of the guanine nucleotide‐binding protein (Gs protein) that stimulates adenylyl cyclase. The gene encoding the α subunit of the Gs protein (GNAS1) has been mapped to the long arm of chromosome 20. We describe 4 unrelated individuals with apparent AHO, associated with small terminal deletions of chromosome 2. All 4 patients had normal serum calcium levels consistent with pseudopseudohypoparathyroidism.Del(2)(q37) is the first consistent karyotypic abnormality that has been documented in AHO [Phelan et al., 1993: Am J Hum Genet 53:484]. The finding of the same small terminal deletion in 4 unrelated individuals with a similar phenotype suggests that a gene locus in the 2q37 region is important in the pathogenesis of Albright syndrome. The association of Albright syndrome and the GNAS1 locus on chromosome 20 is well documented. The observation of a second potential disease locus on chromosome 2 may help explain the heterogeneity observed in this disorder. © 1995 Wiley‐Liss, Inc.
Anophthalmos‐syndactyly (Waardenburg) syndrome without oligodactyly of toes
Authors: Şayli Bekir Sitki , Akarsu A. Nurten , Altan Simay 
Published: June 2005

AbstractWe report on 2 brothers from a consanguineous family from a small city of southeast Turkey. Both have bilateral anophthalmia, soft tissue syndactyly of the feet, bilateral partial synostosis of metatarsals IV and V, and basal synostosis of the fourth and fifth toes on the right in the older sib only, thus differing from all previously reported cases of anophthalmos‐syndactyly syndrome. © 1995 Wiley‐Liss, Inc.
Infantile sialic acid storage disease: Biochemical studies
Authors: Berra B. , Gornati R. , Rapelli S. , Gatti R. , Mancini G. M. S. , Ciana G. , Bembi B. 
Published: June 2005

AbstractInfantile free sialic acid storage disease (ISSD), is an inherited metabolic disorder characterized by hyperexcretion of free sialic acid in the urine and by its storage in the lysosomes of different tissues. In order to obtain more reliable data on the amount of total and free sialic acid, we analyzed the urine, brain, cerebellum, liver, spleen, and kidneys from a 3‐month‐old baby who died with a diagnosis of ISSD. The lysosomal nature of the disease was confirmed by an electron microscopic study of cells in culture. No significant abnormalities were found involving cholesterol, total phospholipids, glycolipids, and gangliosides in the tissues examined. However, differences in the tissue distribution of individual glycolipids and gangliosides were observed. The amount of free and total sialic acid was markedly increased, due to the storage of free sialic acid accompanied by its hyperexcretion in the urine. These results demonstrate and confirm that only acid monosaccharide transport from the lysosome compartment is involved in the pathogenesis of ISSD. © 1995 Wiley‐Liss, Inc.
Ullrich‐Turner syndrome: Neurodevelopmental changes from childhood through adolescence
Authors: Ross Judith L. , Stefanatos Gerry , Roeltgen David , Kushner Harvey , Cutler Gordon B. 
Published: June 2005

AbstractOur objective was to investigate whether the previously‐described neurocognitive pattern in girls with Ullirich‐Turner syndrome is found in childhood and adolescence; we used a prospective, controlled study of neurocognitive development in girls with Ullrich‐Turner syndrome. The patients included 56 girls with Ullrich‐Turner syndrome, and 100 normal age‐ and verbal IQ‐matched female control subjects, whose ages ranged from 6–14 years. All girls with Ullrich‐Turner syndrome and the normal control girls received a battery of neurocognitive tests designed to evaluate the following domains: general cognition, memory, academic achievement, language, visualspatial/perceptual skills, visual‐motor skills, attention, and affect recognition. Our results demonstrated consistent findings in Ullrich‐Turner syndrome girls across the age range studied. In general, the Ullrich‐Turner girls resembled control subjects in terms of verbal and language abilities. We found relatively depressed performance IQ and a significant verbal IQ‐performance IQ difference. Significant differences were observed on examination of nonverbal abilities. The Ullrich‐Turner girls performed more poorly than control girls on 1) tests of visual‐motor skills including the Beery Test of Visual‐Motor Integration, the Perceptual Organization Factor, and the Rey‐Osterrieth Figures; 2) tests of visual‐spatial skills, including the Motor‐Free Visual Perception Test; 3) tests of attention, including the Freedom From Distractibility Factor; and 4) the Affective Prosody Affect Recognition Test. Ullrich‐Turner subjects showed evidence of multifocal or diffuse right cerebral dysfunction and deficits generally involving nonverbal skills that may be due to X chromosome monosomy, gonadal dysgenesis, or both. Future studies will examine the role of estrogen replacement on cognitive function in Ullrich‐Turner syndrome individuals. © 1995 Wiley‐Liss, Inc.
GAPO syndrome: A new case
Authors: Sandgren Gerd 
Published: June 2005

AbstractThe fifteenth known case of GAPO syndrome is presented: a probable autosomalrecessive condition of growth retardation, alopecia, pseudoanodontia (failure of tooth eruption), and optic atrophy. This article contains the clinical report of a 9‐year‐old girl and a short review of the hitherto‐known cases. The syndrome could be attributed to either ectodermal dysplasia or perhaps an accumulation of extracellular connective tissue matrix. © 1995 Wiley‐Liss, Inc.
Maternal uniparental disomy of chromosome 2 in a baby with trisomy 2 mosaicism in amniotic fluid culture
Authors: Harrison Kathleen , Eisenger Katerina , Anyane‐Yeboa Kwame , Brown Stephen 
Published: June 2005

AbstractWe describe the first case of a baby with maternal uniparental disomy of chromosome 2. Growth failure, hypothyroidism, and hyaline membrane disease were present at birth, and the first year of life was complicated by bronchopulmonary dysplasia. At age 14 months, motor and intellectual development were normal, but growth remained below the 10th centile. The baby was investigated for uniparental disomy because trisomy 2 mosaicism had been detected in a second trimester amniocentesis. This is the first reported case in which amniotic fluid chromosome mosaicism has been associated with uniparental disomy. Implications for prenatal diagnosis are considered. © 1995 Wiley‐Liss, Inc.
Incidence and mortality rates of cystic fibrosis in Japan, 1969–1992
Authors: Imaizumi Yoko 
Published: June 2005

AbstractThe incidence rate and the death rate of cystic fibrosis (CF) in Japan were analyzed using Japanese Vital Statistics data for the period 1969–1992. The incidence rate was 3.1 per million live births during the period 1969–1980, where the rate was 1.5 times higher in rural than urban areas. The proportion of deaths from CF under 5 years old was 82% and under 20 years old was 94%. Overall death rates of CF per million population under 20 years of age were 0.15 for males and 0.10 for females, the difference being significant; the death rate was also significantly higher in males (2.2 per million) than females (1.3) in the first year of life. The death rate decreased from the period 1969–1973 to the period 1989–1992 for males. There were geographical variations in the incidence and the death rates among nine districts. These rates of CF were observed with the highest being in Hokkaido and the lowest in Okinawa. The death rate from CF was negatively correlated with the average temperature. The death rate was higher in rural than in urban areas during the period 1969–1985. The mean age at death from CF was 3 years for both sexes during the period 1969–1985, the value has been increased since 1979. © 1995 Wiley‐Liss, Inc.
Clinical and cytogenetic findings in seven cases of inverted duplication of 8p with evidence of a telomeric deletion using fluorescence in situ hybridization
Authors: Guo Wen‐Jun , Callif‐Daley Faith , Zapata Maria Carmen , Miller Marvin E. 
Published: June 2005

AbstractWe report on the clinical and cytogenetic findings in 7 cases of inverted duplication of region 8p11.2‐p23. The phenotype of inv dup (8p) compiled from this series and the literature (N = 29) consists of severe mental retardation (100%), minor facial alterations (97%), agenesis of the corpus callosum (80%), hypotonia (66%), orthopedic abnormalities (58%), scoliosis/kyphosis (40%), and congenital heart defect (26%). A telomeric deletion of region 8p23.3‐pter was confirmed in 3 of our cases studied using fluorescent in situ hybridization with a telomeric probe for 8p. Thus, these karyotypes are inv dup del(8) (qter→p23.1::p23.1→p11.2:). Our findings sugest that most cases of inv dup(8p) probably have a telomeric deletion. © 1995 Wiley‐Liss, Inc.
Growth in stature in fragile X families: A mixed longitudinal study
Authors: Loesch Danuta Z. , Huggins Richard M. , Hoang Ngoc H. 
Published: June 2005

AbstractThe effect of fragile X on growth in stature was estimated in individuals aged 5–20 years from 50 fragile X families. The multivariate normal model for pedigree analysis was applied to the mixed longitudinal data, which varied with regard to intervals between the measurements and their number in individual subjects, totalling 349 measurement data points from fragile X families, and 292 data points from unrelated normal subjects. The results of genetic and regression analysis showed that, in fragile X boys and girls, total pubertal height gain is impaired, whereas the rate of growth during the preadolescent period is increased, compared with the growth rate of nonfragile X subjects. Moreover, the growth parameters in fragile X males were found to be correlated with the size of CGG trinucleotide expansion. The hypothesis of premature activation of the hypothalamo‐pituitary gonadal axis is postulated as the cause of growth impairment in fragile X boys and girls, which should be verified by data on the timing of pubertal stages, hormone levels, and bone maturation. © 1995 Wiley‐Liss, Inc.
GAPO syndrome: Report on the first case in Japan
Authors: Moriya Naoki , Mitsui Tetsuo , Shibata Takanori , Yamaguchi Katsuhiro , Kanazawa Chikako , Matsunaga Akira , Hayasaka Kiyoshi 
Published: June 2005

AbstractWe studied a 3.5‐year‐old Japanese boy with growth retardation, alopecia, pseudoanodontia, and bilateral papilledema. He was born of nonconsanguineous parents, but his paternal grandparents were related. From his characteristic physical manifestations, we diagnosed him as the first known case of GAPO syndrome in Japan and perhaps in the Mongoloid race. Our case had prominent dilatation of scalp veins and an audible intracranial bruit. Cranial angiography documented a narrowing of the sigmoid sinuses, with no flow to either jugular vein. We discuss here the relationships between optic atrophy and intracranial vascular changes in this syndrome. © 1995 Wiley‐Liss, Inc.
Missense mutation of the β‐cardiac myosin heavy‐chain gene in hypertrophic cardiomyopathy
Authors: Arai Shoichi , Matsuoka Rumiko , Hirayama Kenji , Sakurai Hisanao , Tamura Masaharu , Ozawa Tenkou , Kimura Misa , Imamura Shin‐Ichiro , Furutani Yoshiyuki , Joh‐o Kunitaka , Kawana Masatoshi , Takao Atsuyoshi , Hosoda Saichi , Momma Kazuo 
Published: June 2005

AbstractHypertrophic cardiomyopathy occurs as an autosomal dominant familial disorder or as a sporadic disease without familial involvement. We describe a missense mutation of the β‐cardiac myosin heavy chain (MHC) gene, a G to T transversion (741 Gly→Trp) identified by direct sequencing of exon 20 in four individuals affected with familial hypertrophic cardiomyopathy. Three individuals with sporadic hypertrophic cardiomyopathy, whose parents are clinically and genetically unaffected, had sequence variations of exon 34 of the α‐cardiac MHC gene (a C to T transversion, 1658 Asp→Asp, resulting in FokI site polymorphism), of intron 33 of the α‐cardiac MHC gene (a G to A and an A to T transversion), and also of intron 14 of the β‐cardiac MHC gene (a C to T transversion in a patient with Noonan syndrome). Including our case, 30 missense mutations of the β‐cardiac MHC gene in 49 families have been reported thus far worldwide. Almost all are located in the region of the gene coding for the globular head of the molecule, and only one mutation was found in both Caucasian and Japanese families. Missense mutations of the β‐cardiac MHC gene in hypertrophic cardiomyopathy may therefore differ according to race. © 1995 Wiley‐Liss, Inc.
Skeletal abnormalities in Rett syndrome: Increasing evidence for dysmorphogenetic defects
Authors: Leonard H. , Thomson M. , Bower C. , Fyfe S. , Constantinou J. 
Published: June 2005

AbstractThe presence of metatarsal and metacarpal abnormalities in some individuals has raised the possibility that Rett syndrome is, in fact, a multiple congenital abnormalities/mental retardation (MCA/MR) syndrome. We have conducted radiological examination of 17 cases of Rett syndrome in Western Australia. Short fourth and/or fifth metatarsals were identified in 65% of cases and short fourth and/or fifth metacarpals in 57%. Metatarsal (P = 0.045) and metacarpal (P = 0.006) shortness were significantly more common in girls 14 years or older. Negative ulnar variance (found in 79% of cases) appeared to be independent of age. Reduced bone density in the hands was found in 86% of cases. A nationwide study using the Australian Rett Syndrome Database is planned to follow up these findings and compare them with findings from a control group. The confirmation of these abnormalities in a high proportion of cases may provide morphologic markers to assist in the diagnosis of Rett syndrome and perhaps provide a further avenue of research into the pathogenesis of this disorder. © 1995 Wiley‐Liss, Inc.
Smith‐Magenis syndrome deletion: A case with equivocal cytogenetic findings resolved by fluorescence in situ hybridization
Authors: Juyal Ramesh C. , Greenberg Frank , Mengden Gregory A. , Lupski James R. , Trask Barbara J. , van den Engh Ger , Lindsay Elizabeth A. , Christy Heather , Chen Ken‐Shiung , Baldini Antonio , Shaffer Lisa G. , Patel Pragna I. 
Published: June 2005

AbstractThe availability of markers for the 17p11.2 region has enabled the diagnosis of Smith‐Magenis syndrome (SMS) by fluorescence in situ hybridization (FISH). SMS is typically associated with a discernible deletion of band 17p11.2 upon cytogenetic analysis at a resolution of 400–550 bands. We present a case that illustrates the importance of using FISH to confirm a cytogenetic diagnosis of del(17)(p11.2). Four independent cytogenetic analyses were performed with different conclusions. Results of low resolution analyses of amniocytes and peripheral blood lymphocytes were apparently normal, while high resolution analyses of peripheral blood samples in two laboratories indicated mosaicism for del(17)(p11.2). FISH clearly demonstrated a 17p deletion on one chromosome of all peripheral blood cells analyzed and ruled out mosaicism unambiguously. The deletion was undetectable by flow cytometric quantitation of chromosomal DNA content, suggesting that it is less than 2 Mb. We conclude that FISH should be used to detect the SMS deletion when routine chromosome analysis fails to detect it and to verify mosaicism. © 1995 Wiley‐Liss, Inc.
Impact of apolipoprotein E genotype variation on means, variances, and correlations of plasma lipid, lipoprotein, and apolipoprotein traits in octogenarians
Authors: Haviland Martha B. , Lussier‐Cacan Suzanne , Davignon Jean , Sing Charles F. 
Published: June 2005

AbstractThe impact of apoliporotein (apo) E genotype variation on means, variances and correlations between plasma lipid traits was studied in male and female octogenarians. Females had significantly higher mean levels of all 10 of the measured plasma lipid traits than males. The subset of concomitants (i.e., age, height, weight, body mass index, glucose and uric acid) that made a statistically significant contribution to interindividual variability was different in males and females for every trait considered. Gender‐specific associations between variation in apo E genotype and variation in pariticular measures of lipid metabolism, adjusted for concomitant variation, were observed: in females there were no statistically significant associations while in males the means of the three common apo E genotypes were significantly different for adjusted measures of total cholesterol, low density lipoprotein cholesterol and low density lipoprotin‐apo B. The common apo E genotypes were heterogeneous with respect to intragenotypic variance for adjusted logtransformed triglyceride levels in females only. Finally, the three common apo E genotypes were heterogeneous with respect to the correlation between traits, adjusted for concomitant variation, and gender influenced the manner in which the genotypes differed for specific correlations. This study documents that variation in the apo E gene has a significant impact on means, variances and correlations of plasma lipid traits in octogenarians, but the effects are context‐, that is, gender‐ and age‐, dependent. © 1995 Wiley‐Liss, Inc.
Juberg‐Marsidi syndrome: Report of an additional case
Authors: Tsukahara Masato , Nasu Takahito , Takihara Hiroshi , Hattori Yukio , Nakane Hiroshi , Kamata Kiyoharu , Mitsui Hiroshi , Hayashida Shigeaki 
Published: June 2005

AbstractWe report on a 2‐year‐old boy with Juberg‐Marsidi syndrome. He has mental retardation, short stature, micropenis, cryptorchidism, and minor facial abnormalities. His Leidig cells responded to the administration of human chorionic gonadotropin and there were positive responses of LH and FSH to the administration of LH‐RH. He showed normal weight gain and head circumference which have not been described previously. The association of Juberg‐Marsidi syndrome with HbH disease was ruled out in the propositus. © 1995 Wiley‐Liss, Inc.
Enamel hypoplasia, bilateral cataracts, and aqueductal stenosis: A new syndrome?
Authors: Seow W. Kim , Needleman H. L. , Smith Lois E. H. , Holtzman D. , Najjar S. 
Published: June 2005

AbstractWe report on a 12‐year‐old girl who presented with generalized enamel hypoplasia, cataracts, and enlargement of the cerebral ventricles secondary to aqueductal stenosis. Previously described syndromes of enamel defects with or without cataracts were excluded on the basis of clinical criteria and appearance of the dentition. Metabolic conditions which could have caused cataracts were excluded clinically and by biochemical tests. The combination of signs in this patient may represent a new syndrome. © 1995 Wiley‐Liss, Inc.
Risk prediction with linked markers: Pedigree analysis
Authors: Rogatko André , Rebbeck Timothy , Zacks Shelemyahu 
Published: June 2005

AbstractRogatko [1995: Am J Med Genet 59:14–23] has proposed a method for risk prediction with linked markers. The actual implementation of this method requires that the analytical forms of likelihood and risk functions be specified. It is impractical to obtain the explicit analytical form of these functions in large phase unknown pedigrees. When large phase unknown pedigrees are encountered, the compound risk can be approximated by a transformation of the discrete distribution obtained by computing the likelihood and risk functions over a grid of points. We propose a method to compute genetic risks when the functional form of the pedigree likelihood is unknown. The method was evaluated using a simple pedigree by comparing the results when functional forms were and were not known. This method was also applied to estimate genetic risks for a single pedigree with nonsyndromal X‐linked mental retardation using 3 genetic markers linked to the putative disease gene. Linkage data from an extended pedigree were combined with genome mapping data, and recurrence risk distributions were calculated for members of the pedigree. The results suggest that the proposed method provides accurate risk estimate for genetic diseases. Computer programs are available to apply this method whenever genetic markers are suspected of being linked to a disease gene. © 1995 Wiley‐Liss, Inc.
Identification of a supernumerary marker derived from chromosome 17 using FISH
Authors: Rosenberg Carla , Borovik Cleide L. , Canonaco Rosane S. , Sichero Laura C. , Queiroz Ana Paula S. , Vianna‐Morgante Angela M. 
Published: June 2005

AbstractWe report on a 15‐year‐old girl with mental retardation, obesity, short stature and minor anomalies. She had 47 chromosomes with a minute extra ring which was identified by FISH to be derived from chromosome 17. © 1995 Wiley‐Liss, Inc.
Prenatal diagnosis of a stable de novo centric fission: A case report
Authors: Bogart Mark H. , Fujita Nathan , Serles Lori , Hsia Y. E. 
Published: June 2005

AbstractWe report on the prenatal diagnosis of a baby with a de novo centromeric fission of chromosome 21. Both fission products were mitotically stable. Follow‐up chromosome analysis after birth confirmed the centromere fission. This chromosome fission appears to be without clinical significance for this patient. © 1995 Wiley‐Liss, Inc.
Interstitial deletion of the long arm of chromosome 6 associated with unusual limb anomalies: Report of two new patients and review of the literature
Authors: Pandya Arti , Braverman Nancy , Pyeritz Reed E. , Ying Kuang‐Lin , Kline A. D. , Falk Rena E. 
Published: June 2005

AbstractWe report on unusual manifestations in 2 unrelated children with interstitial deletion of 6q, with nearly identical breakpoints of 6q16.2q23.1 and 6q16.3q22.3. Major findings include growth retardation, profound developmental delay, microcephaly, facial anomalies, sparse hair, congenital heart defects, and striking hand malformations. Discordant anomalies were duodenal atresia and hypoplastic genitalia in 1 child. Split‐hand defect, polydactyly, gastrointestinal anomalies, and ectodermal dysplasia have not been described previously in children with 6q deletion. The presence of hand malformations in 2 children with similar deletion breakpoints strongly suggests that this is a candidate region for one or more genes involved in limb development. Comparison of the clinical findings of other patients with 6q2 deletion suggests a recognizable phenotype. © 1995 Wiley‐Liss, Inc.
Perinatal death in two sibs with infantile cortical hyperostosis (Caffey disease)
Authors: de Jong Greetje , Muller Linnie M. M. 
Published: June 2005

AbstractWe describe 2 sibs with lethal, prenatal‐onset cortical hyperostosis. Antenatal sonographic diagnosis of the first sib was that of short limb dwarfism and thoracic dysplasia (nonspecific), possibly osteogenesis imperfecta. The second sib had a similar appearance on ultrasonography. The thickened, irregularly echodense diaphyses were an aid to diagnosis. Although sporadic cases and autosomal dominant inheritance have been described, an autosomal recessive cause for the lethal prenatal onset cases cannot be excluded. © 1995 Wiley‐Liss, Inc.
Sternal cleft: Case report and review of a series of nine patients
Authors: Héron Delphine , Lyonnet Stanislas , Iserin Laurence , Munnich Arnold , Padovani Jean‐Paul 
Published: June 2005

AbstractCleft sternum is a rare malformation due to partial or total failure of sternal fusion at an early stage of embryonic development. Sternal clefts can be classified as superior, inferior, or complete. Here we report on a 2‐year‐old boy with inferior sternal cleft and complex cardiac malformation. We review a series of 9 children with sternal clefts, referred to us over a 10‐year period. Hypothetical mechanisms for this developmental anomaly are discussed. © 1995 Wiley‐Liss, Inc.