bluuebunny/crossref_metadata_2025_split huggingface dataset:
Polyimides based on poly(2‐furanmethanol‐formaldehyde)
Authors: Patel Kaushik S. , Desai Kishor R. , Chikhalia Kishor H. , Patel Hasmukh S. 
Published: January 2004

AbstractPolyimides were prepared by a Diels–Alder (DA) reaction of furan resin, namely poly(2‐furanmethanol‐formaldehyde) (PFF), with various bismsaleimides. The DA reaction was carried out in tetrahydrofuran (THF) as a solvent, as well as in bulk, followed by aromatization of tetrahydrophthalimide intermediates in the presence of acetic anhydride. All the polyimides were characterized by elemental analysis, infrared (IR) spectral studies, and thermogravimetry. Polyimides based on FF resin exhibit good thermal stability and preliminary tests for glass reinforcement of the polyimides indicate that laminates with good mechanical strength can be prepared. © 2004 Wiley Periodicals, Inc. Adv Polym Techn 23: 76–80, 2004; Published online in Wiley InterScience (www.interscience.wiley.com). DOI 10.1002/adv.10075
A unique patient with an Ullrich–Turner syndrome variant and mosaicism for a tiny r(X) and a partial proximal duplication 1q
Authors: Dawson A.J. , Wickstrom D.E. , Riordan D. , Cardwell S. , Casey R. , Baldry S. , Brown C. 
Published: January 2004

AbstractA 7‐year old female with global cognitive impairment, short attention span, hyperactivity, impulsivity, and many compulsive behaviors was referred to the Genetics Clinic. Height was below the 5th centile and weight was at the 5th centile while head circumference was at the 50th centile. Minor anomalies included bluish sclera, low set and slightly posteriorly rotated auricles and a narrow palate with marked overbite. There was no significant family history. Chromosome analysis showed an unbalanced, mosaic female karyotype consisting of three cell lines: 46,X,+r[46]/45,X[37]/45,X,dup(1)(q11q21.3) [17] de novo.ish r(X)(DXZ1+,XIST+). Expression of XIST was observed in cDNA from the patient, suggesting the presence of an inactive X chromosome. Inactivation was confirmed by detection of a methylated allele of androgen receptor. This methylated allele was under‐represented in undigested DNA, consistent with it arising from the r(X) which was present in only a minority of the patient's cells. The clinical phenotype of the tiny r(X) syndrome in our patient is obviously further influenced by mosaicism for the dup(1). Few cases of duplication of the proximal portion of chromosome 1 have been reported. Of these, the duplication either was present in all cells or involved different band regions so that a direct comparison would be difficult. However, the lower percentage of mosaicism for the dup(1) in our patient would suggest a milder influence on the clinical phenotype. © 2003 Wiley‐Liss, Inc.
Gonadal mosaicism in severe Pallister–Hall syndrome
Authors: Ng David , Johnston Jennifer J. , Turner Joyce T. , Boudreau Eilis A. , Wiggs Edythe A. , Theodore William H. , Biesecker Leslie G. 
Published: January 2004

AbstractPallister–Hall syndrome (PHS, MIM #146510) is characterized by central and postaxial polydactyly, hypothalamic hamartoma (HH), bifid epiglottis, imperforate anus, renal abnormalities, and pulmonary segmentation anomalies. It is inherited in an autosomal dominant pattern. Here, we describe a family with two affected children manifesting severe PHS with mental retardation, behavioral problems, and intractable seizures. Both parents are healthy, with normal intelligence, and have no malformations on physical, laryngoscopic, and cranial MRI exam. The atypical presentation of these children and the absence of parental manifestations suggested an autosomal recessive mode of inheritance or gonadal mosaicism. Sequencing of GLI3 revealed a two nucleotide deletion in exon 15 (c.3385_3386delTT) predicting a frameshift and premature stop at codon 1129 (p.F1129X) in the children while both parents have wild type alleles. Genotyping with GLI3 intragenic markers revealed that both children inherited the abnormal allele from their mother thus supporting gonadal mosaicism as the underlying mechanism of inheritance (paternity was confirmed). This is the first reported case of gonadal mosaicism in PHS. The severe CNS manifestations of these children are reminiscent of children with non‐syndromic HH who often have progressive mental retardation with behavioral problems and intractable seizures. We conclude that the phenotypic spectrum of PHS can include severe CNS manifestations and that recurrence risks for PHS should include a proviso for gonadal mosaicism, though the frequency cannot be calculated from a single case report. Published 2003 Wiley‐Liss, Inc.
Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: Report of a new family with additional features and review
Authors: Mégarbané Hala , Zablit Cynthia , Waked Naji , Lefranc Gérard , Tomb Roland , Mégarbané André 
Published: January 2004

AbstractTwo brothers with ichthyosis follicularis, noncicatricial universal alopecia, photophobia, hyerkeratotic psoriasis‐like lesions, nails dystrophy, inguineal herniae, cryptorchidism, short stature, seizures, and psychomotor developmental delay are described. These features correspond to the ichthyosis follicularis, alopecia, photophobia (IFAP) syndrome. The youngest brother had in addition a bilateral absence of 4th fingers and camptodactyly, features never reported in patients with IFAP syndromes. © 2003 Wiley‐Liss, Inc.
Bilaterally asymmetric effects of quantitative trait loci (QTLs): QTLs that affect laxity in the right versus left coxofemoral (hip) joints of the dog (Canis familiaris)
Authors: Chase Kevin , Lawler Dennis F. , Adler Fred R. , Ostrander Elaine A. , Lark Karl G. 
Published: January 2004

AbstractIn dogs hip joint laxity that can lead to degenerative joint disease (DJD) is frequent and heritable, providing a genetic model for some aspects of the human disease. We have used Portuguese water dogs (PWDs) to identify Quantitative trait loci (QTLs) that regulate laxity in the hip joint. A population of 286 PWDs, each characterized by ca. 500 molecular genetic markers, was analyzed for subluxation of the hip joint as measured by the Norberg angle, a quantitative radiographic measure of laxity. A significant directed asymmetry was observed, such that greater laxity was observed in the left than the right hip. This asymmetry was not heritable. However, the average Norberg angle was highly heritable as were the Norberg angles of either the right or left hips. After correction for pedigree effects, two QTLs were identified using the metrics of the left and right hips as separate data sets. Both are on canine chromosome 1 (CFA1), separated by about 95 Mb. One QTL, associated with the SSR marker FH2524 was significant for the left, but not the right hip. The other, associated with FH2598, was significant for the right but not the left hip. For both QTLs, some extreme phenotypes were best explained by specific interactions between haplotypes. © 2003 Wiley‐Liss, Inc.
Prevalence of congenital cardiovascular malformations among relatives of infants with hypoplastic left heart, coarctation of the aorta, and d‐transposition of the great arteries
Authors: Loffredo Christopher A. , Chokkalingam Anand , Sill Anne M. , Boughman Joann A. , Clark Edward B. , Scheel Janet , Brenner Joel I. 
Published: January 2004

AbstractCardiovascular malformations (CVM) are the most common birth defects and carry significant and lifelong personal and societal costs. Research into genetic and environmental risk factors is therefore critical in identifying clues to causation and prevention. The purpose of this study was to investigate patterns of familial aggregation in CVM, specifically among infants with left‐sided obstructive heart defects. We ascertained families of probands with hypoplastic left heart (HLH: N = 38), coarctation of the aorta (CoA: N = 46), and d‐transposition of the great arteries (dTGA: N = 22). First degree relatives had clinical examinations and echocardiograms; all other relatives had detailed reviews of medical records. A total of 2,694 relatives were included in the study: 379 1st degree, 986 2nd degree, and 1,329 3rd degree. Mean nuclear family size and sibship size were similar among the groups. CVM were detected more frequently in 1st degree relatives of probands with HLH (19.3%) or CoA (9.4%) than among dTGA families (2.7%). The proportions of affected 2nd degree relatives were similar across groups (≤1%). In 3rd degree relatives, CVM was detected in 1.8% of the HLH families compared to 1.2% in CoA and 0.4% in dTGA families. The predominant types of CVM among relatives of HLH and CoA probands were left‐sided obstructive lesions, in 72% (21 of 29) and 67% (25 of 37) of the affected relatives, respectively. Familial aggregation of these types of CVM is therefore confirmed in this study, potentially facilitating the search for specific genetic and other risk factors in recurrent CVM. © 2003 Wiley‐Liss, Inc.
Complex chromosome re‐arrangement 45,X,t(Y;9) in a girl with sex reversal and mental retardation
Authors: de Ravel T.J.L. , Fryns J.P. , Driessche J. Van , Vermeesch J.R. 
Published: January 2004

AbstractA girl with mental retardation and multiple minor anomalies was found to have a complex chromosome 9p re‐arrangement comprising a deleted, translocated Y chromosome, a deletion of the sex reversal gene region (DMRT1) at 9p, together with an inverted duplication of the more proximal part of 9p. The karyotype was 45,X,der(Y;9)(Ypter→Yq12::9p21.1→9p22.2::9p22.2→9qter) de novo. The karyotypic male, phenotypic female had a dysgerminoma of the left dysplastic ovary. The patient had typical ‘trisomy 9p’ syndrome, and we propose that the critical region for this phenotype is located between 9p22.1 and 9p22.2. © 2003 Wiley‐Liss, Inc.
Lissencephaly with der(17)t(17;20)(p13.3;p12.2)mat
Authors: Thomas Mary Ann , Duncan Alessandra M.V. , Bardin Claudette , Kaloustian Vazken M. Der 
Published: January 2004

AbstractThe isolated lissencephaly sequence may be caused by point mutations of the LIS1 gene or by FISH‐detectable microdeletions of the 17p13.3 region, which carries the LIS1 gene. These have various patterns of phenotypic presentations, including the Miller–Dieker syndrome (MDS). Approximately 20% of these deletions are associated with a derivative chromosome 17 inherited from a parent who has a balanced reciprocal translocation involving chromosome 17 and another chromosome. We report a case of lissencephaly associated with a maternally inherited unbalanced translocation involving chromosome arms 17p and 20p. This results in partial monosomy of 17p13.3→pter and partial trisomy of 20p12.2→pter. To our knowledge, this is the first report of a reciprocal translocation between 17p and 20p. Our patient has a combination of findings of the MDS and trisomy 20p, along with several unique anomalies not described in either of those two conditions. This report may contribute to the delineation of a phenotype resulting from partial monosomy 17p and partial trisomy of 20p. © 2003 Wiley‐Liss, Inc.
Autosomal recessive frontotemporal pachygyria
Authors: Ramirez Dorian , Lammer Edward J. , Johnson Caroline B. , Peterson Cynthia D. 
Published: January 2004

AbstractPachygyria is a cortical malformation that results from the abnormal migration of neurons. Regions of the brain with pachygyria have an abnormally thick cortex that lacks normal folding and has deficient layering. We describe three siblings, born to nonconsanguineous Mexican parents, who have bilateral frontotemporal pachygyria without polymicrogyria. The pachygyria is accompanied by moderate mental retardation, esotropia, and either hypertelorism or telecanthus. They are otherwise morphologically normal and do not have microcephaly. Two experienced a single seizure in infancy. The characteristic phenotype present in this family suggests a new genetic syndrome that is likely inherited as an autosomal recessive trait. © 2003 Wiley‐Liss, Inc.
Subtelomeric deletion of 18p in an adult with paranoid schizophrenia and mental retardation
Authors: Babovic‐Vuksanovic Dusica , Jenkins S.C. , Ensenauer R. , Newman D.C. , Jalal S.M. 
Published: January 2004

AbstractChromosome anomalies are responsible for a significant proportion of patients with mental retardation, and congenital anomalies. Development of new molecular cytogenetic techniques has provided a powerful tool for detection of patients with subtle chromosome abnormalities. Particularly, investigation of the gene‐rich subtelomeric regions has generated interest regarding the implications and prevalence of cryptic chromosomal rearrangements. Here we describe an adult with a submicroscopic deletion of 18pter, detected by subtelomeric FISH probe. The patient is a 42‐year‐old man with a history of developmental delay, moderate mental retardation, and symptoms of paranoid schizophrenia since adolescence. His physical examination is remarkable for only a few dysmorphic findings typically seen in 18p− syndrome (round face, hypertelorism, down‐slanted palpebral fissures, temporal narrowing, small hands and feet). He lacks significant short stature, skin changes, and associated anomalies involving internal organs. All known patients with deletions of the short arm of chromosome 18 have either loss of large parts of 18p or of the entire p‐arm, or have complex chromosomal rearrangement involving other chromosomes. To our knowledge, this is the first description of a cryptic subtelomeric deletion of 18p and the first case of such a chromosomal anomaly in a patient with schizophrenia. Small subtelomeric chromosomal deletions would be missed by standard G‐banded karyotyping. Therefore, FISH analysis using subtelomeric probes should be considered for diagnostic evaluation of patients with psychiatric symptoms and mental retardation in whom the karyotype is normal. © 2003 Wiley‐Liss, Inc.
Mosaic trisomy 11p in monozygotic twins with discordant clinical phenotypes
Authors: Marcus‐Soekarman D. , Hamers G. , Velzeboer S. , Nijhuis J. , Loneus W.H. , Herbergs J. , de Die‐Smulders C. , Schrander‐Stumpel C. , Engelen J. 
Published: January 2004

AbstractWe report on monozygotic (MZ) twins with a de novo mos 46,XX,der(15)t(11;15)(p12;p11.2)/46,XX karyotype varying in different tissues. The clinical presentation and findings at the cytogenetic level are described. One of the infants had definite minor anomalies at birth, also found in other cases of trisomy of 11p resembling the Beckwith–Wiedemann syndrome. Theoretical backgrounds regarding the string of events leading to the cytogenetic findings in these twins and the various factors that might have contributed to the dissimilarities in phenotype between these twins are discussed. © 2003 Wiley‐Liss, Inc.
A new mutation in the skeletal ryanodine receptor gene (RYR1) is potentially causative of malignant hyperthermia, central core disease, and severe skeletal malformation
Authors: Rueffert Henrik , Olthoff Derk , Deutrich Christine , Schober Ralf , Froster Ursula G. 
Published: January 2004

AbstractMalignant hyperthermia susceptibility (MHS) and central core disease (CCD) have been shown to result from missense mutations in the ryanodine receptor gene of the skeletal muscle (RYR1). A 15‐year‐old patient who had spondylocostal dysostosis (SCD) developed an MH crisis during general anesthesia. The patient was characterized phenotypically by block vertebrae, vertebral fusion, short neck and thorax, fused ribs, craniofacial abnormalities, spina bifida occulta, and a diaphragmatic defect closed surgically in early infancy. The diagnosis MH susceptible (MHS) was confirmed by the in vitro contracture test (IVCT) on a muscle biopsy. Surprisingly, the histopathological investigation revealed the presence of CCD too. Molecular genetic investigation of the RYR1 gene was performed to search for known MH‐related mutations. Cluster regions of the RYR1 gene, in which mutations have already been found, were examined by direct automated sequencing. In addition to the diagnosis MHS and CCD we were able to identify a novel RYR1 mutation in exon 46: 7358ATC > ACC, resulting in an Ile2453Thr substitution. This mutation was also present in the mother, in whom MH disposition and CCD were determined by muscle investigations. We suggest that the newly identified RYR1 mutation is closely associated with MH and CCD. A probable causative role of the RYR1 gene in SCD patients should be assessed by further genetic investigations. © 2003 Wiley‐Liss, Inc.
Onset and progression of disease in familial and sporadic Parkinson's disease
Authors: Inzelberg R. , Schecthman E. , Paleacu D. , Zach L. , Bonwitt R. , Carasso R.L. , Nisipeanu P. 
Published: January 2004

AbstractLately different and rare genetic forms of Parkinson's disease (PD) have been described. Complete genomic screening has suggested that still undefined multiple genetic factors might underlie the development of PD. The course of PD patients with and without genetic background might be different. We compared the age at onset and progression of PD with (FH) and without (NFH) family history. Two hundred forty PD patients attending the outpatient Movement Disorders Clinic were evaluated. The age of onset (AO), the duration of disease until stage III of Hoehn and Yahr (YST3), until dementia (YDEM) and family history of PD were determined by interview, examination of medical files and of affected family members. Patients with young onset who reported another PD patient among their siblings were tested for parkin mutations. Statistical analysis used ANOVA, Fisher's Least Significant Difference, log‐rank and Wilcoxon's tests for Kaplan–Meier survival curves taking stage III and dementia as end‐points. Of the 240 patients (age 73.3 ± 10.9 years), 29 (12%) had positive FH. Six of them carried parkin mutations. The AO was 33.5 ± 8.1 (range 19–42) years for parkin carriers, 59.3 ± 11.3 (range 34–76) for FH and 66.5 ± 11.8 (27–91) years for NFH (P < 0.0001). The three groups were significantly different from each other (α = 0.05). Stage III and dementia were reached only in non‐parkin patients. YST3 was 12.6 ± 6.6 years for FH and 6.5 ± 5.0 years for NFH (P < 0.0001). YDEM was 10.1 ± 6.0 years for FH versus 4.7 ± 4.5 years for NFH (P = 0.002). Kaplan–Meier survival analysis revealed faster motor (P = 0.0016) and mental decline (P = 0.02) in NFH versus FH. Our results showed that the AO of PD is younger in patients with FH. Motor and mental deterioration, however, showed a less steep course in familial PD patients. © 2003 Wiley‐Liss, Inc.
FOXC1 gene deletion is associated with eye anomalies in ring chromosome 6
Authors: Zhang Hui Z. , Li Peining , Wang Dongmei , Huff Shannon , Nimmakayalu Manjunath , Qumsiyeh Mazin , Pober Barbara R. 
Published: January 2004

AbstractWe report a case of ring chromosome 6 presenting with growth and mental retardation, cerebral dysgenesis, eye malformations, mixed hearing loss, and abnormal physical features. Fluorescent in situ hybridization (FISH) and microsatellite genotyping demonstrated segmental deletions of less than 6 Mb on 6p and 1–2 Mb on 6q. The primary karyotype is designated as 46,XY,r(6)(p25q27).ish r(6)(p25.1q27)(D6S344−, FOXC1−, D6S1574+, D6S281−, D6S297+). Secondary structural and numerical variants of the ring 6 were observed in 16% of the cells analyzed. Intragenic genotyping revealed deletion of the paternal FOXC1 gene, haploinsufficiency of which has been reported to cause eye anterior chamber developmental defects. Accordingly, we propose that our patient's ophthalmologic abnormalities result from haploinsufficiency of the transcription factor FOXC1. We present clinical and cytogenetic summaries on 23 reported cases of ring 6 and categorize them into mild, moderate, and severely affected groups. Further phenotype comparisons between cases with ring 6 and cases with only 6p or 6q terminal deletions suggest that genes important for hearing, vision, and central nervous system development remain to be identified in chromosome 6 terminal regions. Molecular definition of the fusion points and tissue mosaicism studies are necessary to better understand the genotype–phenotype correlation of ring 6. We recommend ophthalmology, audiology, cardiology, and central nervous system examinations be part of the routine evaluation for children with a ring chromosome 6. © 2003 Wiley‐Liss, Inc.
“Everybody in the world is my friend” hypersociability in young children with Williams syndrome
Authors: Doyle Teresa F. , Bellugi Ursula , Korenberg Julie R. , Graham John 
Published: January 2004

AbstractWilliams syndrome (WS) is a rare genetic disorder involving a characteristic cardiac defect, typical facial appearance, and an uneven profile of cognitive strengths and weaknesses. WS is caused by a hemizygous deletion in chromosome band 7q11.23, including the gene for elastin (ELN). Typically, individuals with WS seem driven to greet and interact with strangers. The goal of the present study was to investigate age‐related changes in the expression of hypersociability in WS. Parents of 64 children with WS, 31 children with Down syndrome (DS), and 27 normal controls (NC) provided data concerning specific aspects of their children's social behavior using the Salk Institute Sociability Questionnaire (SISQ). Children ranged in age from 1 year, 1 month to 12 years, 10 months. Consistent with earlier findings, whole group analyses showed the WS group to be significantly higher on all aspects of sociability studied. Comparisons among the groups at different ages revealed that hypersociability is evident even among very young children with WS, and, significantly, children with WS exceed children with DS with respect to Global Sociability and Approach Strangers in every age group. The findings from children who have the typical deletion for WS are contrasted with data obtained from a young child with WS who has a smaller deletion and many physical features of WS, but who does not demonstrate hypersociability, providing intriguing clues to a genetic basis of social behavior in this syndrome. These data suggest the involvement of a genetic predisposition in the expression of hypersociability in WS. © 2003 Wiley‐Liss, Inc.
Kousseff syndrome: A causally heterogeneous disorder
Authors: Maclean K. , Field M.J. , Colley A.S. , Mowat D.R. , Sparrow D.B. , Dunwoodie S.L. , Kirk E.P.E. 
Published: January 2004

AbstractThe existence of Kousseff syndrome as a distinct entity has been thrown into doubt by a recent study conducted on the family originally reported by Kousseff. In all cases where chromosome 22q11.2 FISH testing has been undertaken, including the original sibship, a chromosome 22q11.2‐microdeletion has been identified. We report two cases of sacral myelomeningocele associated with a conotruncal cardiac anomaly or “Kousseff syndrome.” The first case, a 4‐year‐old girl, had a sacral myelomeningocele, tetralogy of Fallot, microcephaly, hydrocephalus, hypoplasia of the corpus callosum and mild–moderate developmental delay. Chromosome 22q11.2 FISH was normal and the facial phenotype was not that of velocardiofacial syndrome. Sequencing of the entire coding region of CITED2 did not reveal a mutation. The second case, a male infant, was found to have a 22q11.2‐microdeletion. These cases confirm Kousseff syndrome to be a causally heterogeneous disorder. © 2003 Wiley‐Liss, Inc.