bluuebunny/crossref_metadata_2025_split huggingface dataset:
Social‐emotional and behavioral adjustment in children with Williams‐Beuren syndrome
Authors: Gosch Angela , Pankau Rainer 
Published: June 2005

AbstractIn children with Williams‐Beuren syndrome (WBS), disturbed behaviors (neurotic, antisocial, and hyperactive) [Arnold et al., 1985: Dev Med Child Neurol 27:49–59; Udwin et al., 1987: J Child Psychol Psychiat 28:297–309] have been described.To study the behavior disturbances and social‐emotional adjustment in children with WBS, a group of N = 19 patients was compared with a control group, matched for age, gender, and nonverbal reasoning abilities. Parents were asked to assess the children's behavior in terms of a list of 20 items of the Child Behavior Checklist (CBCL) [Achenbach and Edelbrock, 1983: Manual for the Child Behavior Checklist] and the Vineland Social Maturity Scale (VSMS) [Lüer et al., 1972: Kurzform der Vineland Social Maturity Scale].As compared with the control group, children with WBS differ significantly in their social behavior towards strangers. They exhibit no reserve or distancing behavior and would, for instance, follow a stranger without hesitation. They are described as showing a hypersensitivity to sounds that is more pronounced than in the control group. Finally, they are found to be significantly less well‐adjusted socially than the control individuals. © 1994 Wiley‐Liss, Inc.
Molecular analysis of 53 fragile X families with the probe StB12.3
Authors: Puissant H. , Malinge M. C. , Larget‐Piet A. , Martin D. , Chauveau P. , Odent S. , Plessis G. , Parent Ph. , Lemarec B. , Larget‐Piet L. 
Published: June 2005

AbstractFifty‐three pedigrees with the fragile X syndrome have been studied for amplification of the CGG repeat sequence adjacent to the CpG island in the FMR1 gene. Probe StB12.3 allowed direct detection of affected males, carrier females, normal transmitting males, as well as prenatal diagnosis. Comparison of our molecular data with our previous linkage data from 38 families indicates the effectiveness of direct DNA analysis. A total of 325 individuals were studied and no new mutation was found. All daughters of males with a premutation had a premutation. When the mother had a full mutation no children had a premutation. In premutated mothers, the size of the premutation seems to be a determining factor for the transition to the full mutation. All affected males had a full mutation or mosaicism and only 42% of the females with a full mutation were mentally impaired. Analysis of large families over 3 generations illustrated clearly the Sherman paradox. Furthermore, the analysis of these families is in reasonable agreement with the multiallelic model of Morton and Macpherson [Proc Natl Acad Sci USA 89:4215–4217, 1992]. Mosaic cases in the offspring of the mothers with a full mutation suggest a maternal germinal mosaicism. Then an abnormal methylation and a somatic heterogeneity established in very early steps of embryogenesis could explain these Cases. © 1994 Wiley‐Liss, Inc.
Failure to find linkage between a functional polymorphism in the dopamine D4 receptor gene and schizophrenia
Authors: Shaikh S. , Gill M. , Owen M. , Asherson P. , McGuffin P. , Nanko S. , Murray R. M. , Collier D. A. 
Published: June 2005

AbstractWe report the results of a linkage study in 24 families multiply affected with schizophrenia using a polymorphic DNA sequence encoding the third cytoplasmic loop of the dopamine D4 receptor. Two‐point LOD score analyses with a range of single gene models ranging from near dominant to near recessive revealed no evidence for linkage. In addition, we examined the data by non‐parametric sib‐pair analysis and found no excess sharing of alleles between affected sib‐pairs. We therefore conclude that mutations within the dopamine D4 receptor gene do not have a major aetiological role in schizophrenia in our collection of pedigrees. © 1994 Wiley‐Liss, Inc.
Psychiatric genetics: Research challenges and pathways forward
Authors: Rutter M. 
Published: June 2005

AbstractLessons from past psychiatric genetic research, together with key issues in psychiatry requiring genetic investigation, are reviewed in order to consider the implications for the ways forward. It is argued that traditional quantitative genetics needs to use a combination of twin, adoptee, and family strategies, to examine continuities and discontinuities in psychopathology between childhood and adult life, to compare dimensions and categories, to employ adequate conceptualization and measurement of disorders, to use statistical techniques based on latent constructs, to use biological trait indicators where possible, to examine risk factors as well as diseases, to include good measures of postulated environmental risk variables, to study the interplay between genes and environment, and to study the key assumptions underlying genetic strategies. Molecular cytogenetics needs to consider both the general and specific psychopathological risks associated with chromosome abnormalities and to examine the mechanism involved, to examine the role of submicroscopic chromosomal deletions and of mitochondrial disorders, and to investigate the mechanisms involved in trinucleotide repeat amplifications that take place during intergenerational transmission. Molecular genetics needs to make greater use of smaller pedigrees in view of the concerns over phenotypic definition and genetic heterogeneity in very large extended dense pedigrees, to use sib‐pair designs in view of the likelihood that most psychiatric disorder will prove to be multifactorial, to combine association strategies with linkage analyses, to pay careful attention to the definition of phenotypes in probands, to remain in close touch with other branches of biological psychiatry, and to make effective use of collaboration between centers. To date, transgenic models have had a rather limited application in psychiatry but, despite their difficulties, they are likely to provide an underpinning for gene therapy in disorders where that seems feasible. © 1994 Wiley‐Liss, Inc.
A variety of genetic mechanisms are associated with the Prader–Willi syndrome
Authors: Woodage Trevor , Deng Ze‐Min , Prasad Madhuri , Smart Robert , Lindeman Robert , Christian Susan L. , Ledbetter David H. , Robson Lisa , Smith Arabella , Trent Ronald J. 
Published: June 2005

AbstractAn extensive set of chromosome 15 DNA polymorphisms and densitometric analysis with four markers mapping to the Prader–Willi chromosome region (PWCR) of chromosome 15 have been used to characterize a cohort of 30 subjects with classical Prader–Willi syndrome (PWS). Molecular analysis enabled the classification of the PWS subjects into four groups: (A) 18 subjects (60%) had deletions of paternal 15q11–13 involving a common set of DNA markers. Two subjects had differently sized deletions, one larger and one smaller than the other cases. (B) Eight (27%) had maternal uniparental disomy for chromosome 15. (C) One (3%) had a marker chromosome carrying an extra copy of the PWCR. The marker chromosome was demonstrated to be of paternal origin and the two intact chromosomes were maternally derived. This case represents an apparent exception to the generally held view that PWS is associated with an absence of paternally inherited gene(s) located in the PWCR. (D) The remaining three cases (10%) had none of the above abnormalities. This last subgroup of patients has not previously been well characterized but could represent limited deletions not detectable with the markers used or abnormalities in the imprinting process. These cases represent potentially valuable resources to elucidate more precisely the fundamental disorders responsible for PWS. © 1994 Wiley‐Liss, Inc.
Association analysis of the dopamine D2receptor gene in Tourette's syndrome using the haplotype relative risk method
Authors: Nöthen Markus M. , Hebebrand Johannes , Knapp Michael , Hebebrand Kathrin , Camps Astrid , von Gontard Alexander , Wettke‐Schäfer Roswitha , Lisch Sonja , Cichon Sven , Poustka Fritz , Schmidt Martin , Lehmkuhl Gerd , Remschmidt Helmut , Propping Peter 
Published: June 2005

AbstractComings et al. [1991: JAMA 266: 1793–1800] have recently reported a highly significant association between Tourette's syndrome (TS) and a restriction fragment length polymorphism (RFLP) of the dopamine D2receptor gene (DRD2) locus. The A1 allele of the DRD2TaqI RFLP was present in 45% of the Tourette patients compared with 25% of controls. We tried to replicate this finding by using the haplotype relative risk (HRR) method for association analysis. This method overcomes a major problem of conventional case‐control studies, where undetected ethnic differences between patients and controls may result in a false‐positive finding, by using parental alleles not inherited to the proband as control alleles. Sixtyone nuclear families encompassing an affected child and parents were typed for the DRD2TaqI polymorphism. No significant differences in DRD2 A1 allele frequency were observed between TS probands, subpopulations of probands classified according to tic severity, or parental control alleles. Our data do not support the hypothesis that the DRD2 locus may act as a modifying gene in the expression of the disorder in TS probands. © 1994 Wiley‐Liss, Inc.
Association of apolipoprotein E allele ϵ4 with late‐onset sporadic Alzheimer's disease
Authors: Lucotte G. , Visvikis S. , Leininger‐Möler B. , David F. , Berriche S. , Revéilleau S. , Couderc R. , Babron M. C. , Aguillon D. , Siest G. 
Published: June 2005

AbstractApolipoprotein E, type ϵ4 allele (ApoE ϵ4), is associated with late‐onset sporadic Alzheimer's disease (AD) in French patients. The association is highly significant (0.45 AD versus 0.12 controls forϵ4 allele frequencies). These data support the involvement of ApoEϵ4 allele as a very important risk factor for the clinical expression of AD. © 1994 Wiley‐Liss, Inc.
Mediastinal teratoma and precocious puberty in a boy with mosaic Klinefelter syndrome
Authors: Derenoncourt Ajanta N. , Castro‐Magana M. , Jones Kenneth Lee 
Published: June 2005

AbstractWe describe a boy who developed precocious puberty resulting from chorionic gonadotropin produced by a mediastinal germ cell tumor. Following tumor removal he began spontaneous precocious sexual development which was treated and then arrested spontaneously. Investigation of this arrested puberty established that he had Klinefelter syndrome (KS) mosaicism. He represents the first instance of KS mosaicism reported with a mediastinal germ cell tumor, a neoplasm commonly reported in males with a 47,XXY karyotype. We recommend that all males with KS and early sexual development or with “normal” testicular growth be screened with measurement of germ cell tumor markers including β‐subunit of human chorionic gonadotropin and α‐fetoprotein. © 1995 Wiley‐Liss, Inc.
Trisomy 7p resulting from isochromosome formation and whole‐arm translocation
Authors: Lurie Iosif W. , Schwartz Marcia F. , Schwartz Stuart , Cohen Maimon M. 
Published: June 2005

AbstractA newborn boy with a large anterior fontanel, minor facial anomalies, postaxial polydactyly, patent ductus arteriosus, and developmental delay had trisomy of 7p due to an i(7p) and a concomitant t(2;7) (q37.3; q11.1). Significant enlargement of the fontanel is the most characteristic finding in most patients with duplications involving 7p15‐pter. Asynchrony in fore‐ and hindbrain and hemisphere formation leading to brain asymmetry and various defects in the posterior fossa are typical of infants with duplications of 7p11‐p12. A variety of heart defects has also been found in more than 50% of patients with duplication of 7p segments.Isochromosome formation accompanied by whole‐arm translocation, resulting in uniparental isodisomy for the involved segment, is an extremely rare cause leading to partial trisomies. Although it is not clear whether isochromosome formation precedes the whole‐arm translocation or follows it, the secondary rearrangement may have adaptive significance. © 1995 Wiley‐Liss, Inc.
Waardenburg syndrome type II: Phenotypic findings and diagnostic criteria
Authors: Liu Xue‐Zhong , Newton Valerie E. , Read Andrew P. 
Published: June 2005

AbstractThe Waardenburg syndrome (WS) consists of at least two distinct autosomal dominant hereditary disorders. WS Type I has been mapped to the distal part of chromosome 2q and the gene identified as PAX3. Other gene(s) are responsible for WS Type II. Mapping WS Type II requires accurate diagnosis within affected families. To establish diagnostic criteria for WS Type II, 81 individuals from 21 families with Type II WS were personally studied, and compared with 60 personally studied patients from 8 families with Type I and 253 cases of WS (Type I or II) from the literature.Sensorineural hearing loss (77%) and heterochromia iridum (47%) were the two most important diagnostic indicators for WS Type II. Both were more common in Type II than in Type I. Other clinical manifestations, such as white forelock and skin patches, were more frequent in Type I. We estimate the frequency of phenotypic traits and propose diagnostic criteria for WS Type II. In practice, a diagnosis of WS Type II can be made with confidence given a family history of congenital hearing loss and pigmentary disorders, where individuals have been accurately measured for ocular distances to exclude dystopia canthorum. © 1995 Wiley‐Liss, Inc.
Syndrome of proximal interstitial deletion 4p15: Report of three cases and review of the literature
Authors: Chitayat David , Ruvalcaba Rogelio H. A. , Babul Riyana , Teshima Ikuko E. , Posnick Jeffrey C. , Vekemans Michel J. J. , Scarpelli Helene , Thuline Horace 
Published: June 2005

AbstractWe report on two boys and a girl with interstitial deletion in the short arm of chromosome 4 including the segment p15.2p15.33. All had normal growth with psychomotor retardation, multiple minor congenital anomalies, and a characteristic face distinct from that of the Wolf‐Hirschhorn syndrome. One of the patients had congenitally enlarged penis. These patients resemble some of the previously reported patients with similar cytogenetic abnormalities and suggests the recognition of a specific clinical chromosome deletion syndrome. © 1995 Wiley‐Liss, Inc.
Nutritional patterns of mothers of children with neural tube defects in Newfoundland
Authors: Friel James K. , Frecker Maxine , Fraser F. Clarke 
Published: June 2005

AbstractIn an exploratory study of the genetic epidemiology of neural tube defects in Newfoundland, we studied mothers who had given birth to a child with a neural tube defect (NTD) with respect to their nutrition, as well as various other factors. The frequency of NTD in the area studied was 3.5/1,000 births and has not decreased recently, as it has in some other parts of the world.Twenty‐five mothers of children with NTD and a comparison group (CG), matched for age and neighbourhood, completed 3 day dietary records. The NTD group consisted of all mothers who had given birth to an NTD child within the previous 3.5 years in the chosen area. The CG mothers were ascertained through the local public health nurse who chose the nearest unaffected child born in the same time period as the NTD probands.NTD mothers were younger, heavier, and of lower socioeconomic status than were CG mothers. CG group women consumed more vitamin supplements during the periconceptional period (P<0.05) and consumed more dairy and cereal products, fruits and vegetables (other than potatoes), and fewer sweets than did NTD mothers. Sixty‐four percent of NTD mothers had folacin intakes below the recommended level (168 mg) compared to 27% of CG mothers (P<0.01).These findings support previous evidence that poor maternal nutrition, and low dietary folate in particular, increase the chance of having a child with an NTD, and emphasize the need for supplementary folate in the diet of women of childbearing age in areas where the frequency of NTDs is high. © 1995 Wiley‐Liss, Inc.
Dominant mesomelic shortness of stature with acral synostoses, umbilical anomalies, and soft palate agenesis
Authors: Verloes Alain , David Albert 
Published: June 2005

AbstractWe report on a father and 2 children (a living 4‐year‐old girl and an aborted 18‐week‐old fetus) with a dominantly inherited form of mesomelic shortness of stature with severe ankle, knee, and elbow involvement. Skeletal abnormalities included brachymetacarpy and brachymetatarsy of the 3rd to 5th rays, synostoses in these bones, synostoses of metacarpals and metatarsals II to V with the corresponding carpal/tarsal bones, partial fusion in the proximal row of carpal bones, and mild vertebral anomalies. Father and daughter also had downslanted palpebral fissures, beaked nose, hypertelorism, ptosis, microretrognathia, and transverse agenesis of the soft palate. Abnormally short umbilical cord with unusually long skin coverage was present. Mesomelic shortness worsens with time, with progressive curvature of the forearm. This condition appears to represent a previously undescribed MCA/dysostosis syndrome. © 1995 Wiley‐Liss, Inc.
Distal aphalangia, syndactyly, and extra metatarsal, associated with short stature, microcephaly, and borderline intelligence: A new autosomal dominant disorder
Authors: Martínez‐Frías M. L. , Martín M. , Pardo M. , de Las Heras F. Fernandez , Frías J. L. 
Published: June 2005

AbstractWe report on 3 members of a Spanish family with partial aphalangia, syndactyly with duplication of metatarsal IV, microcephaly, dull intelligence, and short stature. The MCA pattern observed in this family appears to constitute a previously underscribed syndrome. © 1995 Wiley‐Liss, Inc.
Skeletal manifestations in Fryns syndrome
Authors: Tsukahara Masato , Sase Masakatsu , Tateishi Hiroshi , Saito Tsuyoshi , Kato Hiroshi , Furukawa Susumu 
Published: June 2005

AbstractWe report on a female baby with Fryns syndrome who died soon after birth. The patient had short limbs, coarse face, hypoplastic lungs, diaphragmatic hernia, and acral hypoplasia. Literature review disclosed varying degrees of skeletal manifestations in Fryns syndrome; short limbs may be a component of Fryns syndrome. © 1995 Wiley‐Liss, Inc.
Developmental anomalies suggestive of the human homologue of the mouse mutant disorganization
Authors: Elliott Alison M. , Chen Moy‐Fong , Azouz E. Michel , Teebi Ahmad S. 
Published: June 2005

AbstractWe describe a 21‐week‐old fetus with a pattern of multiple congenital anomalies suggestive of the human homologue of the mouse mutant disorganization (Ds). Manifestations included facial asymmetry, thick eye brows, micrognathia, apparently lowset ears, an enormous abdominal wall defect, severe kyphoscoliosis, camptodactyly of the fingers, complete absence of the left lower limb, and absence of the lower part of the sacrum and coccyx, as well as left side of the pelvis. There was a disorganized appearance of the right foot with supernumerary digits and appendages and talipes equinovarus. No obvious amniotic bands or oligohydramnios were noted. Similar cases in the literature are reviewed and the clinical significance to genetic counselling is emphasized. © 1995 Wiley‐Liss, Inc.
Prenatal diagnosis of the urea cycle diseases: A survey of the european cases
Authors: Kamoun P. , Fensom A. H. , Shin Y. S. , Bakker E. , Colombo J. P. , Munnich A. , Bird S. , Canini S. , Huijmans J. G. M. , Chadefaux‐Vekemans B. , Whitfield A. E. , Kleijer W. J. 
Published: June 2005

AbstractA European survey of prenatal diagnosis cases involving urea cycle diseases was performed. Citrullinemia was the most frequently investigated disease (108 cases). Other diseases are, in order of frequency, argininosuccinic aciduria (75 cases), ornithine transcarbamylase defect (52 cases), carbamoylphosphate synthetase defect (8 cases), triple H (3 cases), and arginase deficiency (1 case). Only one disease (ornithine transcarbamylase defect) is presently diagnosed using molecular biology methods. © 1995 Wiley‐Liss, Inc.
Absent tibiae—polydactyly—triphalangeal thumbs with fibular dimelia: Variable expression of the Werner (McKusick 188770) syndrome?
Authors: Vargas Fernando Regla , Pontes Ricardo Lopes , Llerena Juan Clinton , de Almeida Jose Carlos Cabral 
Published: June 2005

AbstractWe report on a family in which the autosomal dominant Werner syndrome (WS) (MIM# 188770) affects ten members in three generations. Besides the absent tibiae the propositus had duplication of the fibulae. Possible pathogenetic mechanism is discussed. © 1995 Wiley‐Liss, Inc.
Summary of the 1993 ASHG ancillary meeting “recent research on chromosome 4p syndromes and genes”
Authors: Estabrooks Laurel L. , Breg W. Roy , Hayden Michael R. , Ledbetter David H. , Myers Richard M. , Wyandt Herman E. , Yang‐Feng Teresa L. , Hirschhorn Kurt 
Published: June 2005

AbstractThe following is a summary of presentations given during an ancillary meeting to the 1993 American Society of Human Genetics Meeting in New Orleans, LA. This ancillary meeting, entitled “Recent Research on Chromosome 4p Syndromes and Genes,” reviewed the history of the Wolf‐Hirschhorn syndrome (WHS), the natural history of patients with WHS, and the smallest region of deletion associated with the WHS. The proximal 4p deletion syndrome and the duplication 4p syndrome were also described and advice was offered regarding detection of chromosome 4p deletions, duplications, and rearrangements. The current status of the physical map of chromosome 4p with emphasis on the genes that map to the 4p16 region was presented along with a preliminary phenotypic map of 4p16. The goal of this format was to provide a comprehensive review of the clinical presentations, diagnostic capabilities, and genetic mapping advances involving chromosome 4p. © 1995 Wiley‐Liss, Inc.
Syndromal frontonasal dysostosis in a child with a complex translocation involving chromosomes 3, 7, and 11
Authors: Stevens Cathy A. , Qumsiyeh Mazin B. 
Published: June 2005

AbstractWe report on a 4‐year‐old boy with typical frontonasal dysostosis and an apparently balanced de novo translocation involving chromosomes 3, 7, and 11, and four breakpoints. The karyotype was 46,XY,t(7;3)(3;11) (7pter→7q21.3::3q27→3qter;3pter→3q23::11q21→11qter;11pter→11q21::3q23→3q27::7q21.3→7qter). In situ hybridization with a chromosome 3 painting probe confirmed the interpretation from GTG banding. The child had a widow's peak, marked hypertelorism, absence of the nasal tip, and widely separated nares. He also had an atrial septal defect, micropenis, small testes, clubfeet, scoliosis, block C2–4, and structural brain abnormalities on MRI. In review we found two other cases of frontonasal dysostosis with chromosome abnormalities, neither of which was similar to our case. The presence of a denovo (apparently) balanced translocation in our patient may help to locate the gene(s) for frontonasal dysplasia and perhaps other midline craniofacial malformations. © 1995 Wiley‐Liss, Inc.
Anterior cervical hypertrichosis: A dominantly inherited isolated defect
Authors: Braddock Stephen R. , Jones Kenneth Lyons , Bird Lynne M. , Villegas Isidro , Jones Marilyn C. 
Published: June 2005

AbstractWe present a sporadic case of nonsyndromal anterior cervical hypertrichosis and review the literature. Based on prior documentation of dominant inheritance it is suggested that this case may be the result of a fresh mutation associated with older paternal age. © 1995 Wiley‐Liss, Inc.