bluuebunny/crossref_metadata_2025_split huggingface dataset:
Extended major histocompatibility complex haplotypes in celiac patients in the west of Ireland
Authors: Mannion Anne , Stevens Fiona M. , McCarthy C. F. , Grimes‐O'Cearbhaill Helen , Killeen A. A. 
Published: June 2005

AbstractThe highest reported prevalence of celiac disease (gluten‐sensitive enteropathy) is found in the West of Ireland. Recent genetic data have suggested that major histocompatibility complex‐linked loci may have a dominant genetic effect for disease susceptibility in this population compared with a recessive effect in other groups. To further understand the role of the MHC in celiac disease in the West of Ireland, we analyzed markers for 22 MHC haplotypes from celiac patients and compared them with 18 nontransmitted haplotypes found in the parents of celiac children, and with reported haplotypes from other populations. An extended MHC haplotype including [HLA‐B8, DR3, DQw2, Bf*S, C4A*Q0, and C4B*1] accounted for 50% of celiac haplotypes but only 27% of nontransmitted parental haplotypes. Compared with other reported haplotypes in celiacs, patients from the West of Ireland show a higher prevalence of HLA‐A1 as a component of this extended haplotype, suggesting that although the core haplotype is similar between Irish patients and others, the celiac population in the West of Ireland differs at other HLA loci. We did not observe any other common haplotypes among our patients unlike the situation in other populations. These differences may underlie the possible dominant effect of HLA‐linked loci and the unusually high prevalence of celiac disease in the Irish population. We also found that the serum levels of complement components C3c, C4, and factor B were significantly lower among celiac patients than nonceliacs. The lower serum level of C4 appears to be related to the presence of deletions and null alleles at the C4A and C4B loci in celiacs. © 1993 Wiley‐Liss, Inc.
Prenatal diagnosis of Tetraploidy: A case report
Authors: Coe Sandra J. , Kapur Raj , Luthardt Frederick , Rabinovitch Peter , Kramer Dawna 
Published: June 2005

AbstractWe report on the second trimester prenatal diagnosis of an apparently nonmosaic tetraploid fetus, 92,XXYY. Indications for cytogenetic studies of the fetus included abnormal ultrasound findings and abnormal maternal serum levels of alpha‐fetoprotein (AFP)/human chorionic gonadotropin (hCG)/estriol. Chromosome analysis of amniocytes documented tetraploidy, a finding confirmed by flow cytometry of several fetal tissues. Autopsy findings in the fetus are compared with those of other cases of tetraploidy. To our knowledge this is the first reported prenatal diagnosis of a tetraploid fetus. Additionally, it illustrates the value of flow cytometric analysis of products of conception in which polyploidy is suspected. © 1993 Wiley‐Liss, Inc.
Decrease in the size of the myotonic dystrophy CTG repeat during transmission from parent to child: Implications for genetic counselling and genetic anticipation
Authors: Hunter Alasdair G. W. , Jacob Pierre , O'Hoy Kim , MacDonald Ian , Mettler Gabrielle , Tsilfidis Catherine , Korneluk Robert G 
Published: June 2005

AbstractRecently an unstable trinucleotide CTG repeat, located within the 3′ untranslated region of a gene on 19q13.3 was discovered in kindreds with myotonic dystrophy (DM). The age‐of‐onset/severity of DM shows a good correlation with CTG repeat size, and pedigrees and data reported to date have shown a striking trend toward amplification of the size of the CTG repeat during transmission from parent to child. The amplification has been accepted as the biological explanation for anticipation in the clinical severity observed in many families with DM.In this paper we report on 3 families where CTG amplification decreased during transmission from parent to child. In one case there was a gene conversion event, while in the remaining 2 there was a simpler reduction in the size of the repeat length. The changes appear to have been accompanied by a reduction in clinical severity in the child when compared to the parent. These observations are discussed in terms of their clinical implications and the biases that may exist in much of the reported data. © 1993 Wiley‐Liss, Inc.
Eye abnormalities in the Smith‐Magenis contiguous gene deletion syndrome
Authors: Finucane Brenda M. , Jaeger Edward R. , Kurtz Michael B. , Weinstein Martha , Scott Charles I. 
Published: June 2005

AbstractWe present the results of ophthalmologic assessment in 10 patients with interstitial chromosome deletions of 17p11.2, otherwise known as the Smith‐Magenis syndrome (SMS). The most common abnormalities noted were strabismus, Brushfield spots, high myopia, and retinal detachments. We have previously reported high myopia and retinal detachments in 6 patients with SMS (Finucane et al.: Am J Hum Genet 49:262A, 1991). We present additional details on these individuals, as well as findings in 4 newly reported patients. Ocular pathology appears to be very common in SMS, significantly contributing to disability in people with this syndrome. The combination of high myopia, self‐injurious head‐banging, aggression, and hyperactivity among these patients makes them particularly susceptible to retinal detachments. Detailed ophthalmologic assessment should be included in the clinical work‐up and monitoring of all patients with SMS resulting from deletion 17p11.2. © 1993 Wiley‐Liss, Inc.
Mosaicism for deletion 17p11.2 in a boy with the Smith‐Magenis syndrome
Authors: Finucane Brenda M. , Kurtz Michael B. , Ramesh Babu V. , Scott Charles I. 
Published: June 2005

AbstractWe describe a 14‐year‐old boy with physical and behavioral manifestations of the Smith‐Magenis syndrome. Low level mosaicism (11%) for deletion 17p11.2 was found in peripheral blood lymphocytes. The deletion was also observed in 100% of metaphases examined from skin fibroblast cultures. We confirm that the Smith‐Magenis syndrome is associated with a highly recognizable phenotype. Because evidence of the abnormal cell line may be minimal or absent in peripheral blood, fibroblast studies are indicated for patients in whom mosaicism for deletion 17p11.2 is suspected clinically. © 1993 Wiley‐Liss, Inc.
Further delineation of spondylo‐meta‐epiphyseal dysplasia, short limb‐abnormal calcification type, with emphasis on diagnostic features
Authors: Langer Leonard O. , Wolfson Barbara J. , Scott Charles I. , Reid Cheryl S. , Schidlow Daniel V. , Millar Edward A. , Borns Patricia F. , Lubicky John P. , Carpenter Becky L. M. 
Published: June 2005

AbstractFurther delineation of a generalized bone dysplasia which we call spondylo‐meta‐epiphyseal dysplasia, short limb‐abnormal calcification type is presented. This dwarfing condition has several serious complications, with the most common cause of death being spinal cord damage secondary to atlantoaxial instability. It is a heritable condition with an autosomal recessive mode of transmission. Radiologic diagnostic criteria are developed on the basis of studies in 8 patients with the oldest being between 4 and 5 years old. The condition is clinically and radiographically apparent neonatally or in early infancy, and it is probable that all or almost all affected individuals will come to medical attention in the age range screened by this study. © 1993 Wiley‐Liss, Inc.
Further delineation of the Baller‐Gerold syndrome
Authors: Lin Angela E. , McPherson Elizabeth , Nwokoro Ngozi A. , Clemens Michele , Losken H. Wolfgang , Mulvihill John J. 
Published: June 2005

AbstractThree new patients with the Baller‐Gerold syndrome bring the number of reported cases to 20. In addition to craniosynostosis involving various sutures and preaxial reduction defects of variable severity, affected patients may have anal, urogenital, cardiac, central nervous system, and vertebral defects. Autosomal recessive inheritance is supported by the presence of affected sibs and parental consanguinity. © 1993 Wiley‐Liss, Inc.
Joubert syndrome associated with Leber amaurosis and multicystic kidneys
Authors: Ivarsson Sten‐A. , Bjerre Ingrid , Brun Arne , Ljungberg Otto , Maly Eva , Taylor Ingrid 
Published: June 2005

AbstractWe describe a boy with manifestations of Joubert syndrome, Leber congenital amaurosis, and multicystic kidneys. In infants with unexplained neonatal tachypnea and late developmental delay, absence or hypoplasia of the cerebellar vermis should be sought. Joubert syndrome probably is an autosomal recessive disorder. In the subsequent pregnancy of the propositus' mother, we were able to make a prenatal diagnosis of Joubert syndrome, one of the first to be reported. © 1993 Wiley‐Liss, Inc.
Hearing loss and temporal bone structure in achondroplasia
Authors: Shohat Mordechai , Flaum Eugene , Cobb Steven R. , Lachman Ralph , Rubin Cathi , Ash Carol , Rimoin David L. 
Published: June 2005

AbstractCharacteristic temporal bone changes have recently been defined by high resolution CT in nine patients with achondroplasia (Cobb et al., Am J Neuroradiol 9:1195, 1988). These included narrowing of the skull base and “;towering”; petrous ridges resulting in abnormal orientation of the inner and middle ear structures. In order to determine whether these morphologic changes are the cause of the hearing deficit in achondroplasia, audiometric studies and ENT evaluation were performed in eight of the nine patients. All had a history of frequent otitis media and four had experienced tympanic membrane tube insertion. Three patients had significant sensorineural hearing loss, two had conductive hearing loss and one patient had combined hearing loss. None of the temporal bone morphologic changes were found to be correlated with the degree of either sensorineural or conductive hearing loss. Fusion of the ossicular chain was not present in any of our cases. Appropriate treatment of frequent acute otitis media and early awareness of middle ear effusions and conductive hearing loss in children with achondroplasia may be of great importance in preventing permanent hearing loss. © 1993 Wiley‐Liss, Inc.
Symptomatic and asymptomatic methylenetetrahydrofolate reductase deficiency in two adult brothers
Authors: Haworth J. C. , Dilling L. A. , Surtees R. A. H. , Seargeant L. E. , Lue‐Shing H. , Cooper B. A. , Rosenblatt D. S. 
Published: June 2005

AbstractWe describe two brothers with 5,10‐methylene tetrahydrofolate reductase (MTHFR) deficiency. The younger patient first developed limb weakness, incoordination, paresthesiae, and memory lapses at age 15 years, and by his early twenties he was wheelchair bound. His older brother remains asymptomatic at age 37 years. Both had homocystinuria and homocystinemia and low plasma levels of methionine. MTHFR activities in cultured skin fibroblasts of both patients were <10% control and residual enzyme activities were markedly reduced on heating. The parents had intermediate enzyme activities and the reductase in the father (who had unexplained paraparesis and homocystinemia), but not in the mother, was also thermolabile. Both patients were treated with oral folate and betaine which improved, but did not totally correct, their biochemical abnormality. MTHFR deficiency should be considered in the differential diagnosis of unexplained neurologic disease in adolescents and adults. © 1993 Wiley‐Liss, Inc.
46,XY/47,XYY male with the fragile X syndrome: Cytogenetic and molecular studies
Authors: Milunsky Aubrey , Huang Xinli , Amos Jean A. , Herskowitz Joel , Farrer Lindsay A. , Wyandt Herman E. 
Published: June 2005

AbstractWe report the first case of a 46,XY/47,XYY mosaic male with fragile X[Fra(X)] expression in both cell lines. Cytogenetic analysis, DNA linkage analysis, and direct detection of the pre‐ and full mutation for the affected individual and his at‐risk female relatives were performed. Southern analysis of PstI‐digested DNA with probe pX6 clearly distinguished the normal genotype, the premutation, and the full mutation in various individuals in the patient's family. Fra(X) carriers who had normal cytogenetic results were clearly identified by direct mutation analysis. © 1993 Wiley‐Liss, Inc.
Autosomal dominant multiple café‐au‐lait spots and neurofibromatosis‐1: Evidence of non‐linkage
Authors: Charrow Joel , Listernick Robert , Ward Kenneth 
Published: June 2005

AbstractMultiple café‐au‐lait spots have been observed in successive generations of several families without any other manifestations of neuro‐fibromatosis (NF) or any other systemic disorder. The café‐au‐lait spots in these families segregate as an autosomal dominant trait. The relationship (if any) between the gene for this trait and the NF‐1 gene has previously been unknown. We describe a family with five individuals spanning four generations with dominantly inherited café‐au‐lait spots, without any other stigmata of NF‐1. Linkage analysis with probes proximal, distal, and within the NF‐1 gene indicate that the trait in this family is not linked to NF‐1. We propose that this condition be called Familial Café‐Au‐Lait Spots (FCAL) to distinguish it from the neuro‐fibromatosis syndromes. © 1993 Wiley‐Liss, Inc.
Varying neurological phenotypes among mut° and mut− patients with methylmalonylCoA mutase deficiency
Authors: Shevell Michael I. , Matiaszuk Nora , Ledley Fred D. , Rosenblatt David S. 
Published: June 2005

AbstractMethylmalonylCoA mutase (MCM) is a mito‐chondrial homodimer responsible for the isomerization of methylmalonylCoA to succinylCoA. Apomutase defects are traditionally divided into mut° and mut− classes on the basis of residual mutase activity. Clinical findings were reviewed in 20 patients with methylmalonic aciduria secondary to MCM deficiency. All 11 mut° patients had an early neonatal presentation; 6 of these patients died in infancy and 3 of 5 survivors had a poor neurological outcome as evidenced by severe delay or spastic quadriparesis with dystonia. The 2 other survivors include a 27‐month‐old child with a mild delay in verbal and fine motor skills and an adolescent with low normal intelligence. Of the 9 mut− patients, 7 became symptomatic in late infancy or childhood and 2 were picked up on screening. Two of the 9 patients have never had an episode of metabolic decompensation yet both are neurologically compromised; one severely retarded and autistic, the other mildly delayed. Four mut− patients have had episodic acidosis and are neurologically moderately affected, while 3 have had episodic acidosis and are neurologically intact. These results confirm phenotypic pleomorphism without a consistent pattern of neurological injury and suggest some broad correlation between mutase class and phenotype. Survival with good outcome is possible among mut° patients as is significant morbidity among mut− patients. Acidosis and metabolic imbalance are not necessary preconditions for significant morbidity. © 1993 Wiley‐Liss, Inc.
Monozygotic twins concordant for Rubinstein‐Taybi syndrome and implications for genetic counseling
Authors: Robinson Tonya W. , Stewart Dan L. , Hersh Joseph H. 
Published: June 2005

AbstractWe report on a set of monozygotic twin boys concordant for Rubinstein‐Taybi syndrome, and discuss the possible genetic basis of the disorder. © 1993 Wiley‐Liss, Inc.
Rare alpha 1 antitrypsin allele PI W and a history of infant liver disease
Authors: Clark Dr. P. , Chong A. Y. H. 
Published: June 2005

AbstractWe present a consanguinous couple whose three of four children are homozygous for a rare slow alpha 1 antitrypsin allele PI*W. All three children had abnormal liver function in infancy and two died in infancy of liver disease. The eldest child and both parents were heterozygous for the PI*W allele and were unaffected. Therefore, although serum levels are not markedly reduced, homozygotes appear to be at increased risk of developing liver disease. © 1993 Wiley‐Liss, Inc.
Paternal age as a risk factor for Down syndrome
Authors: de Michelena María I. , Burstein Ezra , Lama Javier R. , Vásquez Julio C. 
Published: June 2005

AbstractAlthough the effect of maternal age as a risk factor for Down syndrome (DS) is well known, the role of paternal age in the cause of DS has not been clearly established. To investigate this phenomenon we conducted a case‐control study between July 1989 and February 1990. The cases were 318 children and teenagers with DS studied at the Specialized Educational Institutions of Lima City, Perú. They were paired with 1,196 control individuals that were selected from the birth records of 2 general hospitals of the city. For each case we tried to obtain 4 controls, paired by their date of birth, sex, and maternal age. The means of paternal age in the 2 groups were compared, first globally and then by groups of maternal age (<21 years, 21–29 years, 30–34 years, 35–39 years and >39 years). None of the comparisons gave a statistically significant difference between the 2 groups, using either the Student t‐test or the Mann‐Whitney U‐test. The results obtained in this study give no evidence that paternal age can be considered a risk factor for the conception of a child with DS. © 1993 Wiley‐Liss, Inc.
Craniofacial, limb, and abdominal anomalies in a distinct syndrome: Relation to the spectrum of Pfeiffer syndrome type 3
Authors: Barone Constance M. , Marion Robert , Shanske Alan , Argamaso Ravelo V. , Shprintzen Robert J. 
Published: June 2005

AbstractPresented are 2 patients with abnormal craniofacial region, limbs, and abdomen, features that may be consistent with Pfeiffer syndrome, type 3. Both patients had bicoronal and bisphenoidal synostosis, extreme exophthalmic midface hypoplasia, and hydrocephalus. The limbs had a fixed flexion deformity of the elbows with broad thumbs which were radiopalmarly deviated; the toes were broad with a varus deformity and syndactyly of toes 2–5. Both patients developed bowel obstruction secondary to midgut malrotation, and one of the patients had prune belly syndrome. Review of the literature disclosed an additional patient who, in retrospect, had Pfeiffer syndrome type 3 and midgut malrotation. These patients suggest that intestinal malrotation with or without prune belly syndrome may be a common component of this entity. © 1993 Wiley‐Liss, Inc.
Brachydactyly, mesomelia, mental retardation, aortic dilatation, mitral valve prolapse, and characteristic face
Authors: Stratton Robert F. , Garcia Patricia R. , Young Robert S. , Jorgenson Ronald J. 
Published: June 2005

AbstractWe report on a male with brachydactyly, thin habitus with narrow shoulders, mesomelic shortness of the arms, long lower face with obtuse mandibular angle, maxillary hypoplasia with beaking of the nose, aortic root dilatation, and mitral valve prolapse. This combination of findings has not been reported previously. © 1993 Wiley‐Liss, Inc.
Dir dup(X) (q13→qter) in a girl with growth retardation, microcephaly, developmental delay, seizures, and minor anomalies
Authors: Aughton David J. , AlSaadi Abdul A. , Johnson Judith A. , Transue David J. , Trock Gary L. 
Published: June 2005

AbstractIn males, duplication of a portion of Xq is associated with multiple congenital anomalies and developmental delay. Most females recognized as having dup(Xq) are phenotypically apparently normal relatives of phenotypically abnormal males; phenotypic normalcy has been attributed to selective inactivation of the duplicated X chromosome. Heretofore, apparently only 5 distinctly phenotypically abnormal females with dup(Xq) have been reported. We report on a 3‐years‐old girl with developmental delay, growth retardation, microcephaly, minor anomalies, and a seizure disorder who had a nonmosaic, de novo direct duplication of the terminal portion of one X chromosome. In each of 50 lymphocytes examined, the duplicated X chromosome was found to be late‐replicating. This case shows that selective inactivation (as reflected by late replication) of the duplicated X chromosome does not inevitably confer phenotypic normalcy on females with dup(Xq), and suggests that other mechanisms must account for the phenotypic differences observed among females with dup(Xq), such as expression of recessive genes on the acive X chromosome, incomplete inactivation of some portion of the duplicated inactivation of some portion of the duplicated chromosomal segment, an imprinting effect, or some combination of these. © 1993 Wiley‐Liss, Inc.
Segregation analysis of rare autosomal folate sensitive fragile sites
Authors: Samadder Pranati , Evans Jane A. , Chudley Albert E. 
Published: June 2005

AbstractWe have studied 12 families with rare autosomal folate sensitive fragile sites (RAFSFS). Of these, 9 were informative for segregtion analysis of fragile sites in order to assess differences in parental transmission. We identified 20 families with RAFSFS from the literature from 1985 to 1989; thirteen of these were informativ for segregation analysis.Segregation analysis confirmed that paternal fragile site transmission rates deviated significantly from the expected 50% for a Mendelian co‐dominant trait. Sex ratio comparisons showed a significant excess of transmitting females and a significnt excess of males among fragile site non‐carriers from the literature families. Comparison of the fragile site carriers with non‐carriers in the combined data showed a non‐significant excess of non‐carriers.We confirmed a deficiency of offspring expressing fragile sites when trnsmission was through fathers, suggesting gametic selection or the phenomenon of parental genomic imprinting. © 1993 Wiley‐Liss, Inc.
Index finger hyperphalangy and multiple anomalies: Catel‐manzke syndrome?
Authors: Wilson Golder N. , King Teresa E. , Brookshire Gail S. 
Published: June 2005

AbstractWe describe a boy with short stature, develpmental delay, unusual face, right iris coloboma, malformed ears, micrognathia, and skeletal anomalies including hyperphalangy of the index fingers, bilateral fifth finger clinodactyly, short halluces, and scoliosis. Internal anomalies included asymmetric and dilated cerebral ventricles and ventricular septal defect. The Neonatal history of small jaw with feeding and respiratory difficulties suggested a Pierre Robin sequence, but there was no cleft palate. Two maternal uncles with similar anomalies had died at ages 13 months and 5 years, respectively, RFLP studies with the DNA probes DXS72 and F8C were consistent with but not diagnostic of X‐linked recessive inheritance. The pattern of anomalies was compatible with a diagnosis of Catel‐Manzke syndrome, but a novel dysostosis syndrome must also be considered. © 1993 Wiley‐Liss, Inc.
Bromodeoxyuridine induces chromosomal fragile sited in the canine genome
Authors: Stone Diana M. , Stephens Kimberly E. 
Published: June 2005

AbstractPeripheral blood lymphocytes from 3 clinically normal domestic dogs were cultured for bromodeoxyuridine (BrdU) induction of fragile site expression. BrdU induced fragile site expression in cells from all 3 dogs. The mean percent of cells with fragile sites and the mean number of fragile sites per cel were significantly increaed in all BrdU incubated cultures compared to control cultures. The frequency of BrdU fragile site expression did not vary significantly among the dogs. Lymphocytes from all 3 dogs expressed BrdU induced autosomal fragile sites. Two BrdU induced fragile sites were identified on the long arm of chromosome 1, one of which was close to or coincident with a previously identified folate sensitive fragile site on this canine chromosome. Lymphocytes from the 2 female dogs also expressed BrdU induced fragile sites on the X chromosome, but BrdU failed to induce fragile sites on the X chromosome from the one male dog in the study. The 2 BrdU‐induced fragile sites identified on the long arm of the X chromosome were close to, or coincident with 2 previously described folate‐sensitive common fragile sited on the canine X chromosome. This is the fist report of induction of BrdU‐inducible fragile sites in the genome of the domestic dog. © 1993 Wiley‐Liss, Inc.