bluuebunny/crossref_metadata_2025_split huggingface dataset:
Earliest description by Johann Friedrich Meckel, Senior (1750) of What is known today as Lutembacher syndrome (1916)
Authors: Wiedemann Hans‐Rudolf 
Published: June 2005

AbstractThe letter that the famous anatomist Johann Friedrich Meckel, Sr. sent from Berlin on May 5, 1750 to the great Albrecht von Haller (at that time resident in Göttingen) contains the earliest reference to an unusual observation made by the former. Even today this observation is considered in the clinical literature to be the first description of a coarctation of the aorta. In fact, it is probably the first description of what is known today as Lutembacher syndrome. © 1994 Wiley‐Liss, Inc.
Microcephaly, lymphedema, and chorioretinal dysplasia: Report of two additional cases
Authors: Angle Brad , Holgado Sandra , Burton Barbara K. , Miller Marilyn T. , Shapiro Michael J. , Opitz John M. 
Published: June 2005

AbstractIn recent years, several patients with microcephaly, lymphedema and chorioretinal dysplasia have been described. We have studied two additional patients with similar findings. The question of whether microcephaly with lymphedema and microcephaly with chorioretinal dysplasia and lymphedema are distinct entities remains unanswered. Identification of other patients in the future may provide additional information. © 1994 Wiley‐Liss, Inc.
Epidemiological and genetic studies of congenital profound deafness in the general population of Sichuan, China
Authors: Liu Xuezhong , Xu Lirong , Zhang Silin , Xu Yin 
Published: June 2005

AbstractPeople with congenital profound deafness (CPD) were surveyed in the general population of Sichuan. The prevalence was 0.082% (104/126, 876) of the general population, male 0.086%, female 0.078%. There was no significant difference in prevalence between urban and rural populations. However, the population living in the mountains had a much higher prevalence than people from the foothills and plains (P < 0.05). Amongst the nationalities investigated, there were significant differences in prevalence. Non‐Chinese, except for Tibetans, presented a significantly higher prevalence than Han Chinese. There was a significantly higher prevalence among the inbred population (0.82%) than among the non‐inbred population (0.072%). An effect of parental age was demonstrated, but no effect of birth order was found. There was a significant seasonal variation in prevalence. Inherited cases could account for 71.2% of all cases, of which 92% were autosomal recessive (AR) and 8% autosomal dominant (AD). Heterogeneity in AR was found with at least 8 different loci. The fitness was 60.26%, the coefficient of selection was 0.3974, mutation rate was estimated to be 2.0 × 10 −4, and no heterozygote advantage was proven. © 1994 Wiley‐Liss, Inc.
Oral‐facial‐digital syndrome: Report on a transitional type between the Mohr and Váradi syndromes in a fetus
Authors: Camera Gianni , Marasini Maurizio , Pozzolo Silvano , Camera Andrea 
Published: June 2005

AbstractOral‐facial‐digital syndromes (OFDS) constitute a heterogeneous group of entities whose clinical manifestations are often overlapping. We report on a 23‐week‐old aborted fetus who showed a transitional phenotype between OFD II and OFD VI syndromes. © 1994 Wiley‐Liss, Inc.
Pitfalls of genetic counselling in brachydactyly type C
Authors: Camera Gianni , Camera Andrea , Costa Margherita , Mantero Renzo 
Published: June 2005

AbstractA familial case of brachydactyly type C is presented in which hand radiographs of the proposita's parents was considered normal. The metacarpophalangeal profile pattern of the mother's hands demonstrated minimal manifestations typical of brachydactyly type C. © 1994 Wiley‐Liss, Inc.
Dermatoglyphic peculiarities in patients with Williams‐Beuren syndrome
Authors: Rodewald Alexander , Pankau Rainer , Gosch Angela , Wessel Armin 
Published: June 2005

AbstractThe dermatoglyphic patterns of fingertips and palms of 115 patients with Williams‐Beuren syndrome (WBS) were analysed and compared with the data from 199 control individuals from Germany. The following combination of dermatoglyphic patterns appears to be characteristic to WBS: an excess of whorls on all fingertips; high termination values of the main lines D, B, and A; frequent absence of C triradius (C°); high frequencies of ulnar loops on the hypothenar and distal loops on the 2nd, 3rd, and 4th inter digital areas, of distal axial triradii t", and of abnormal palmar creases such as simian crease and Sydney lines. The combination of fingertip and palmar patterns expressed by a “Log.Score‐Index,” provides a high degree of discrimination between the WBS patients (92%) and the control group (88%). A “phantom picture” for WBS was constructed, which can be used for its diagnosis. © 1994 Wiley‐Liss, Inc.
Tetrasomy 21 pter→q22.1 and Down syndrome: Molecular definition of the region
Authors: Daumer‐Haas Cornelia , Schuffenhauer Simone , Walther Joachim U. , Schipper Roberton D. , Porstmann Tomas , Korenberg Julie R. 
Published: June 2005

AbstractDown syndrome is usually caused by complete trisomy 21. Rarely, it is due to partial trisomy of the segment 21q22. We report on a 33‐month‐old girl with tetrasomy 21 pter → q22.1 resulting from an extra chromosome idic(21)(q22.1). She has craniofacial traits typical of Down syndrome, including brachycephaly, third fontanel, upward slanting palpebral fissures, round face, and protruding tongue. Speech development is quite delayed whereas motor development is only mildly retarded. The molecular content of the extra isodicentric chromosome was defined by molecular genetic investigations using 13 single copy probes unique to chromosome 21, and SOD1 expression studies. The child was found to have 4 copies of the region defined by D21S16 (21cen) through D21S93 on 21q22.1 and two copies of the remaining region defined by SOD1 → D21S55 → D21S123. In view of the recent assignment of Down syndrome facial characters to the 21q22 region, defined in part by D21S55, it is significant that this child shows a subset of Down syndrome facial manifestations, without duplication of this region. These results suggest that genes contributing to the facial and some of the hand manifestations of Down syndrome also exist in the chromosomal region proximal to D21S55 in band 21q22.1. © 1994 Wiley‐Liss, Inc.
Schinzel‐Giedion syndrome: Autopsy report and additional clinical manifestations
Authors: Rodríguez José Ignacio , Jiménez‐Heffernan José A. , Leal Julia 
Published: June 2005

AbstractSchinzel‐Giedion syndrome (SGS) is a rare and incompletely defined condition. This is the third postmortem study on a boy with SGS and other unusual findings. He had a primitive neuroectodermal tumor in the lumbosacral region, bilateral syndactyly of hands and feet, and brain anomalies in addition to the major manifestations of the syndrome. We consider these clinical findings as possible additional manifestations of the syndrome since, of 19 SGS patients reported, 4 had syndactyly and 3 had embryonal tumors. In addition, the 3 published necropsy studies report brain anomalies. Knowledge that these changes occur in SGS may help facilitate diagnosis and improve our understanding of the syndrome. © 1994 Wiley‐Liss, Inc.
Psychological costs and benefits of predictive testing for Huntington's disease
Authors: Codori Ann‐Marie , Brandt Jason 
Published: June 2005

AbstractThe impact of predictive genetic testing for Huntington's disease (HD) was assessed in 68 persons at high (n = 17) or low risk (n = 51) for the disease at one to six years following disclosure of test results. There was consensus in both groups that knowledge of HD genetic status was beneficial. A majority of persons felt relief from wondering and uncertainty. High‐risk persons identified greater family closeness and financial security. For low‐risk persons, the knowledge that their children were spared offered great consolation. Negative effects in high‐risk persons were psychological burden (worry, guilt). Even for low‐risk subjects, there was a period of adjustment and, in some, disappointment that low risk had not alleviated problems unrelated to HD. Although the majority of marriages were unaffected by testing, some persons in both groups reported that their marriages sustained positive or negative impact. Despite mixed consequences, most did not regret being tested. The benefits of testing appear to outweigh its drawbacks, at least among this self‐selected group of research participants. We also must conclude, however, that predictive genetic testing will result in negative as well as positive consequences, regardless of test outcome. © 1994 Wiley‐Liss, Inc.
Association of the apolipoprotein E ϵ4 allele with clinical subtypes of autopsy‐confirmed Alzheimer's disease
Authors: Zubenko George S. , Stiffler Scott , Stabler Stacy , Kopp Ursula , Hughes Hugh B. , Cohen Bruce M. , Moossy John 
Published: June 2005

AbstractConsistent with previous reports, we observed a significant association of the APOE ϵ4 allele with Alzheimer's Disease (AD) in a series of 91 autopsy‐confirmed cases. The ϵ4 allele frequency was higher in cases with a family history of AD‐like dementia (0.54 ± 0.07), although the ϵ4 allele frequency in the AD cases with a negative family history (0.38 ± 0.05) remained significantly greater than that for the non‐AD control group (0.13 ± 0.03). A similar increase in ϵ4 allele frequency (0.54 ± 0.07) was observed in the AD cases with amyloid angiopathy, compared to those who did not have amyloid angiopathy (0.36 ± 0.04). Contrary to previous reports, no effect of the dosage of the ϵ4 allele was found on the age of onset of dementia among the AD cases and, contrary to reports suggesting an association of ϵ4 and atherosclerosis, the ϵ4 allele frequency was similar in cases with or without concurrent brain infarcts. Modest but consistent correlations were observed between the dosage Of ϵ4 alleles and the cortical density of senile plaques, but not neurofibrillary tangles. The last finding suggests that the pathogenic events mediated by the ϵ4 allele may be more directly involved in the formation of senile plaques, the identifying lesions in AD, than neurofibrillary tangles. A robust association of both the presence of an ϵ4 allele and a family history of AD‐like dementia with concurrent amyloid angiopathy occurred within our sample of AD cases. This association arose from an interaction of the ϵ4 allele with a separate familial factor for which a family history of dementia served as a surrogate. These results suggest that amyloid angiopathy may be a common or central feature of a form of familial AD that is associated with the transmission of the APOE ϵ4 allele. © 1994 Wiley‐Liss, Inc.
Knowledge of genetics and attitudes toward genetic testing in two hereditary ataxia (SCA 1) Kindreds
Authors: Nance Martha A. , Sevenich Ellen A. , Schut Lawrence J. 
Published: June 2005

AbstractMolecular genetic predictive or prenatal genetic testing is now possible in families with one form of adult‐onset, autosomal dominant ataxia (SCA 1). Before the SCA 1 gene was isolated, we began a study of the knowledge of genetics, the perception of the disease, and the intended use of genetic testing among members of two large SCA 1 kindreds.Questionnaires were sent to 210 consenting affected, at‐risk, and spouse members of two SCA 1 kindreds; data from the 117 respondents were analyzed on a personal computer.Sixty‐nine percent of respondents thought predictive testing (by genetic linkage) should be made available immediately, and 42% thought prenatal testing should be made available. The kindreds differed in several important aspects: knowledge of genetic concepts, family size, and anticipated emotional responses to genetic testing. No respondent had obtained individualized genetic counseling.There is moderate interest in genetic testing for this fatal neurodegenerative disease of adulthood. Members of our kindreds have not received genetic counseling outside of the research setting. Finally, factors specific to a particular kindred may influence or predict individual responses to genetic testing. © 1994 Wiley‐Liss, Inc.
Repeat length variation in the dopamine D4 receptor gene shows no evidence of association with schizophrenia
Authors: Daniels J. , Williams J. , Mant R. , Asherson P. , McGuffin P. , Owen M. J. 
Published: June 2005

AbstractThe D4 receptor has been shown to exist in several allelic forms (Van Tol et al., Nature 358:149–152, 1992) reflecting variation in the number of 48 base‐pair sequence repeats in the putative cytoplasmic loop. We report a comparison of repeat length variation between schizophrenic patients and controls. Our sample of 106 unrelated schizophrenic cases and 119 controls showed no significant differences in allele or genotype distribution between patients and controls. In particular, we were unable to support the previous observation of an excess of 4‐repeat homozygotes in patients. © 1994 Wiley‐Liss, Inc.
No evidence of association between dopamine D4 receptor variants and bipolar affective disorder
Authors: Lim Lionel C. C. , Nöthen Markus M. , Körner Judith , Rietschel Marcella , Castle David , Hunt Neil , Propping Peter , Murray Robin , Gill Michael 
Published: June 2005

AbstractDisturbance in the dopamine neurotransmitter system has been implicated in the pathogenesis of affective disorder. In this study, we examine the possibility that functional variants of the recently cloned dopamine D4 receptor gene contribute to the genetic component of manic depression. The polymorphism, a 48 bp tandem repeat coding for part of the third cytoplasmic loop, was detected using a PCR based method. In a first sample of 57 patients and 59 controls, we found allele 7 to be in excess in the patients. In contrast, allele 3 was less frequent in patients. A second, larger sample of 90 patients and 91 controls was utilized to test these hypotheses. Data from the two samples were then pooled together for further analyses. We calculated the power of our samples, and if the frequency of 7 repeat allele obtained from sample 1 is true, i.e., 25% (28/114) for patients and 14% (16/118) for controls, then the power of the combined sample is 62% at 5% (two‐tailed) significance level. However, both observations were not replicated; we therefore conclude that variations in this repeat at the DRD4 gene do not contribute to the genetic component of manic depression. © 1994 Wiley‐Liss, Inc.
Partial trisomy 16p in an adolescent with autistic disorder and Tourette's syndrome
Authors: Hebebrand Johannes , Martin Mathias , Körner Judith , Roitzheim Barbara , de Braganca Katja , Werner Willigis , Remschmidt Helmut 
Published: June 2005

AbstractA partial trisomy 16p was identified in a 14‐year‐old male adolescent with autistic disorder. He additionally showed complex motor and vocal phenomena, including some simple tics which had first appeared in childhood. Whereas these simple tics were of subclinical significance, an additional diagnosis of Tourette's syndrome (TS) appears justified. The case report illustrates the diagnostic difficulties in assessing psychiatric symptomatology associated with both disorders, especially complex motor and vocal phenomena. The cytogenetic finding is discussed critically in the light of other chromosome abnormalities reported in both TS and autistic disorder. Chromosome 16p should be considered as a candidate region especially for autistic disorder. © 1994 Wiley‐Liss, Inc.
Comparison of schizotypal relatives of schizophrenic versus affective probands
Authors: Lyons Michael J. , Toomey Rosemary , Faraone Stephen V. , Tsuang Ming T. 
Published: June 2005

AbstractIn order to investigate possible heterogeneity in schizotypal personality disorder (SPD), two groups of schizotypals, one related to schizophrenic probands (FSPD) (n = 34) and one related to affective disorder probands (NFSPD) (n = 14), ascertained in the same family study, were compared. The FSPD group had more inadequate rapport; the groups did not differ in the frequency of any other symptoms of SPD. NFSPDs had higher rates of comorbid histrionic PD and a trend for higher rates of impulsive/dramatic cluster PDs. FSPDs had a trend for higher rates of anxiety disorders. There was a higher risk of bipolar disorder in the relatives of NFSPDs and higher risk for anxiety disorders in the relatives of FSPDs. The relatives of NFSPDs had higher rates for histrionic, narcissistic, and atypical PDs and for having at least one PD. © 1994 Wiley‐Liss, Inc.
CODAS syndrome: A new distinct MCA/MR syndrome with radiological changes of spondyloepiphyseal dysplasia. Another case report
Authors: de Almeida José Carlos Cabral , Vargas Fernando Regla , Barbosa‐Neto João G. , Llerena Juan C. 
Published: June 2005

AbstractWe report on a young girl with psychomotor delay, cataracts, abnormally shaped teeth, malformed ears, and radiological findings of spondylo‐epiphyseal dysplasia. The clinical picture resembles the CODAS syndrome described by Shebib et al. [Am J Med Genet 40:88–93, 1991]. © 1995 Wiley‐Liss, Inc.
Deletion of chromosome 3 and a 3;20 reciprocal translocation demonstrated by chromosome painting
Authors: Crispino Beatriz , Cardoso Horacio , Mimbacas Adriana , Méndez Virginia 
Published: June 2005

AbstractThe combined use of high resolution banding and chromosome painting techniques allowed us to identify a reciprocal translocation involving chromosomes 3 and 20 and simultaneous interstitial deletion of chromosome 3 in a patient with several minor anomalies of the face and hands. His karyotype is described as 46,XY,t(3;20) (p14.2;p12.2),del(3)(p11‐p14.1). © 1995 Wiley‐Liss, Inc.
Craniodigital syndromes: Report of a child with Filippi syndrome and discussion of differential diagnosis
Authors: Toriello Helga V. , Higgins James V. 
Published: June 2005

AbstractWe describe a boy with low birth weight, congenital microcephaly, multiple minor facial anomalies, cleft palate, soft tissue syndactyly of fingers and toes, and moderate to severe mental retardation. Literature review suggested 6 possible diagnoses, including Scott craniodigital syndrome, Chitayat syndrome, Filippi syndrome, Zerres syndrome, Kelly syndrome, and Woods syndrome. Each has as part of the phenotype craniofacial anomalies and soft tissue syndactyly of fingers and toes; and superficially, distinction among the 6 may be difficult. However, based on the phenotype analysis we performed, we conclude that our patient has Filippi syndrome, and thus is the first reported case from the United States. © 1995 Wiley‐Liss, Inc.
Interstitial duplication of proximal 22q: Phenotypic overlap with cat eye syndrome
Authors: Knoll J. H. M. , Asamoah A. , Pletcher B. A. , Wagstaff J. 
Published: June 2005

AbstractWe describe a child with downslanting palpebral fissures, preauricular malfunctions, congenital heart defect (total anomalous pulmonary venous return), unilateral absence of a kidney, and developmental delay with an apparent interstitial duplication of proximal 22q. Fluorescent in situ hybridization (FISH) analysis showed duplication of the IGLC locus, and C‐banding of the duplicated region was negative. The duplication appears to involve 22q11.2–q12. Although the child has neither colobomas nor microphthalmia, he shows phenotypic overlap with the cat eye syndrome, which is caused by a supernumerary bisatellited chromosome arising from inverted duplication of the short arm and proximal long arm of chromosome 22. Further molecular studies of this patient should help to define the regions responsible for the manifestations of cat eye syndrome. © 1995 Wiley‐Liss, Inc.
Trisomy 2p: Analysis of unusual phenotypic findings
Authors: Lurie Iosif W. , Ilyina Helena G. , Gurevich Dora B. , Rumyantseva Natalja V. , Naumchik Irena V. , Castellan Claudio , Hoeller Adelheid , Schinzel Albert 
Published: June 2005

AbstractWe present three probands with partial trisomies 2p21–23 due to ins(4;2)(q21;p21p23) pat, 2p23‐pter due to t(2;4)(p23;q35)mat, and 2p21‐pter due to t(2;11)(p21;q23.3)mat. More than 50 cases of partial trisomy 2p have been reviewed and some abnormalities, unusual for most other types of structural autosomal imbalance, have been found in patients with inherited forms of 2p trisomy and in their non‐karyotyped sibs. Neural tube defects (anencephaly, occipital encephalocele, and spina bifida) were found in five probands and 4/6 affected non‐karyotyped sibs. The only triplicated segment common to all was 2p24. Different forms of “broncho‐pulmonary a/hypoplasia” (including two cases of lung agenesis) were described in four patients (overlapping triplicated segment was 2p21–p25). Three patients (with overlapping triplicated segment 2p23–p25) had diaphragmatic hernia. Abnormal rotation of the heart or L‐transposition of large vessels (with or without visceral heterotaxia) was found in two infants (overlapping triplicated segment 2p23p24). In two patients with common triplicated segment 2p22.3–p25, neuroblastoma has been described. The occurrence of all these defects may be explained either by the action of the same gene(s) mapped to 2p24 or by action of some independent factors located in different segments of the short arm. Although the latter hypothesis is much less probable, it can not be rejected at the present time. We propose the existence of a genetic system controlling surveillance of an abnormal embryo to explain the phenotypic differences between patients with the same imbalance within a family. In some “restrictive” combinations the abnormal embryos will die, although in “permissive” combinations they can survive. © 1995 Wiley‐Liss, Inc.
Synpolydactyly (type II syndactyly) with aplasia/hypoplasia of the middle phalanges of the toes: Report on a family with eight affected members in four generations
Authors: Camera Gianni , Camera Andrea , Pozzolo Silvano , Costa Margherita , Mantero Renzo 
Published: June 2005

AbstractWe describe a new family with synpolydactyly (syndactyly type II) with 8 affected members in 4 generations. Aplasia/hypoplasia of the middle phalanges of the toes was also noted. In our opinion, this anomaly represents a frequent manifestation of synpolydactyly. No other major skeletal or extraskeletal malformations were present. © 1995 Wiley‐Liss, Inc.
Presence of Y chromosome sequences and their effect on the phenotype of six patients with Y chromosome anomalies
Authors: Shankman S. , Spurdle A. B. , Morris D. , Rosendorff J. , Marques I. , Bernstein R. , Ramsay M. 
Published: June 2005

AbstractThe extent of Y chromosome material was determined in 6 southern African subjects with sex chromosome anomalies. Four of the subjects were phenotypically female, and 2 were phenotypically male. Molecular and cytogenetic findings were correlated with phenotypic expression. An X;Y translocation was found in both male subjects, and in one female subject. The remaining female subjects were characterized by an isodicentric Y, an isochromosome Yq, and a micromarker of undetermined origin, respectively. The individuals were tested for the presence of a number of Y‐specific DNA sequences. Molecular findings were generally compatible with the cytogenetic findings, and also with the phenotypic sex of the patients. All the female subjects had Y material and all but one were negative for the sex determining region of the Y (SRY). The somatic Ullrich‐Turner‐like findings present in 3 of the females were attributed to either the presence of a 45,X cell line and/or a single copy of Xp. The males both showed X;Y translocations without any detectable loss of Y DNA. Although molecularly very similar, the disparate clinical findings in these 2 subjects could have been accounted for by different X inactivation patterns. © 1995 Wiley‐Liss, Inc.