bluuebunny/crossref_metadata_2025_split huggingface dataset:
Penoscrotal transposition and associated anomalies: Report of five new cases and review of the literature
Authors: Parida Saroj K. , Hall Bryan D. , Barton Lorayne , Fujimoto Atsuko 
Published: June 2005

AbstractWe present the largest single series of cases (n = 5) of penoscrotal transposition (PST) with carefully documented nongenitourinary/anal anomalies, none of which fell into categories of known syndromes, associations, sequences or chromosome disorders. Several unexpected anomalies were observed including coloboma of the iris and retina, hydrocephalus, microcephaly, diaphragmatic hernia, tracheo‐esophageal fistula/esophageal atresia and cleft palate. The most frequent anomalies other than PST were renal defects (100%) such as renal agenesis and dysplasia, imperforate anus (60%), central nervous system anomalies (60%) and preaxial upper limb defects (40%). Cardiovascular defects (atrial septal defect, double aortic arch with vascular ring) were noted in only one case. The surviving patients (3/5) had postnatal growth failure and mental retardation. Our 5 PST patients are compared to 16 well‐documented cases from the literature. The overall incidence of various extragenital abnormalities were: renal (90%), mental retarardation (60%), imperforate anus (33%), central nervous system (CNS) anomalies (29%), vertebral defects (29%), preaxial limb defects (24%) and congenital heart disease (19%).PST is a rare heterogenous anomaly, the detection of which should warrant careful clinical evaluation to rule out other anomalies, especially of the urinary system, gastrointestinal tract, upper limbs, craniofacial region and central nervous system. PST may be a localized field defect involving the genitourinary system; however, the wide variety of more distant defects noted in our series and the literature would raise doubt about that assumption. The high frequency of growth deficiency and mental retardation has also not been given due respect as accompanying problems associated with PST. © 1995 Wiley‐Liss, Inc.
Barriers to carrier testing for adult cystic fibrosis sibs: The importance of not knowing
Authors: Fanos Joanna H. , Johnson John P. 
Published: June 2005

AbstractEarly experience in centers offering population screening for cystic fibrosis (CF) has shown that few of the public are taking advantage of the offer [Miller, 1993: New Scientist 139:6]. There is similar low utilization among adult CF sibs [Fanos and Johnson, 1993: Am J Hum Genet 53:A51]. The purpose of this study was to identify factors motivating or interfering with the pursuit of carrier testing in adult CF sibs. Eighty‐four adult CF sibs and their spouses, drawn from Children's Hospital, Oakland, CA, and Children's Hospital, Boston, MA, were interviewed for about an hour, and qualitative material was coded on various themes. Structural and psychological barriers to the transmission of genetic information were identified: 1) sibs encountered difficulty in obtaining information concerning availability of testing; 2) parental guilt and blame prevents parents from discussing genetic issues with the sib; 3) sibs rarely discuss testing with each other; 4) the CF patient or parent often has difficulty with the implications of the sib seeking carrier testing; 5) family and individual myths about carrier status influence the sib's decision to seek testing; 6) statistical odds have lost meaning in families where the rare has already occurred; 7) the sib fears loss of interpersonal desirability; and 8) carrier status can serve an important function in binding guilt. Remaining unaware of their carrier status may serve significant psychological functions for individuals at risk. © 1995 Wiley‐Liss, Inc.
Autosomal dominant “Opitz” GBBB syndrome due to a 22q11. 2 deletion
Authors: McDonald‐McGinn Donna M. , Driscoll Deborah A. , Bason Lynn , Christensen Katherine , Lynch David , Sullivan Kathleen , Canning Douglas , Zavod William , Quinn Norman , Rome Jonathan , Paris Yvonne , Weinberg Paul , Clark Bernard J. , Emanuel Beverly S. , Zackai Elaine H. 
Published: June 2005

AbstractWe report on a family with autosomal dominant paternally inherited “Optiz” GBBB syndrome and an additional case with findings which have been reported in that syndrome. In each case the propositus presented with a vascular ring. Since a vascular ring may be a sign of a 22q11.2 deletion [Zackai et al., 1995], FISH (fluorescencein situhybridization) studies were performed. These studies demonstrated a 22q11.2 deletion in the 3 affected individuals.Review of Opitz GBBB syndrome and the 22q11.2 microdeletion syndrome demonstrates significant overlap of manifestations including both facial characteristics and structural anomalies. Based on the phenotypic overlap and the presence of a 22q11.2 deletion in our patients with Opitz GBBB syndrome and the presence of a deletion in a patient with lung hypoplasia, absent pulmonary artery, and long segment trachemoalacia, we propose that, in some cases, the Opitz GBBB syndrome may be due to a 22q11.2 deletion. This enlarges the list of “syndromes” associated with the 22q11.2 deletion, which presently includes most patients with DiGeorge, velocardiofacial, and conotruncal anomaly face syndrome. © 1995 Wiley‐Liss, Inc.
Achondrogenesis type II with polydactyly
Authors: Rittler Monica , Orioli Iêda M. 
Published: June 2005

AbstractWe report on a newborn male infant who presented the typical findings of achondrogenesis type II (Langer‐Saldino), and who also showed postaxial polydactyly on both feet and bilateral microtia. Polydactyly is frequently part of the short‐rib syndromes, but has not been reported in achondrogenesis. The hypothesis of polydactyly as part of a contiguous gene syndrome is discussed. © 1995 Wiley‐Liss, Inc.
Kabuki make‐up (Niikawa‐Kuroki) syndrome in five Spanish children
Authors: Galán‐Gómez E. , Cardesa‐García J. J. , Campo‐Sampedro F. M. , Salamanca‐Maesso C. , Martínez‐Frías M. L. , Frías J. L. 
Published: June 2005

AbstractWe describe 5 Spanish children with Kabuki make‐up syndrome (KMS)—3 females and 2 males—identified in Badajoz, Spain, between 1988 and 1990. All had the characteristic clinical and radiological manifestations of the syndrome. Psychomotor/mental retardation, postnatal growth deficiency, distinctive facial appearance, sagittal vertebral clefts, and dermatoglyphic abnormalities were present in all 5. Congenital heart defects were present in 4 patients. In addition, one had myopia, astigmatism, and bilateral paralysis of the VI cranial nerve. Another had apparent fusion of the hamate and capitate. An additional patient, as well as his mother, had an apparently balanced 15/17 translocation [46,XY,t(15;17) (15q;21q)]. The fact that these patients were ascertained in a catchment area of approximately 250,000 inhabitants and in a relatively limited period of time suggests that the prevalence of the KMS may be higher than previously recognized. © 1995 Wiley‐Liss, Inc.
Short rib‐dysplasia group (with/without polydactyly): Report of a patient suggesting the existence of a continuous spectrum
Authors: Franceschini P. , Guala A. , Vardeu M. P. , Signorile F. , Franceschini D. , Bolgiani M. P. 
Published: June 2005

AbstractWe report on a patient with manifestations typical of Mohr syndrome and of the short rib (polydactyly) syndromes (SR(P)S) Majewski, Verma‐Naumoff, Beemer, and Jeune. It seems possible that the different types of SR(P) syndromes, rather than being distinct conditions, are part of a large disease spectrum. The frequent overlap between orofaciodigital syndromes and SR(P) syndromes may be interpreted as the outcome of deletions of different size within the same chromosome region. © 1995 Wiley‐Liss, Inc.
Inversion duplication of the short arm of chromosome 8: Clinical data on seven patients and review of the literature
Authors: de Die‐Smulders Christine E. M. , Engelen John J. M. , Schrander‐Stumpel Constance T. R. M. , Govaerts Lutgarde C. P. , de Vries Bert , Vles Johannes S. H. , Wagemans Annemiek , Schijns‐Fleuren Suzanne , Gillessen‐Kaesbach Gabriele , Fryns Jean‐Pierre 
Published: June 2005

AbstractWe report on clinical and cytogenetic data on 5 children and 2 adults with a de novo inverted duplication of the short arm of chromosome 8, and we give a review of 26 patients from the literature. The clinical picture in young children is characterized by minor facial anomalies, hypotonia, and severe developmental delay. In older patients the facial traits are less characteristic, spastic paraplegia develops, and severe orthopedic problems are frequent. Psychomotor retardation is always severe‐to‐profound. Duplication of 8p21‐p22 results in a clinically recognizable multiple congenital anomalies/mental retardation (MCA/MR) syndrome. It is shown that in all patients examined, the duplication was accompained by a deletion of the most terminal part of 8p. © 1995 Wiley‐Liss, Inc.
Autosomal‐recessive microcephaly in two siblings, one with normal IQ and both with protruding mandible, small ears, and curved nose
Authors: Rizzo Renata , Pavone Lorenzo 
Published: June 2005

AbstractWe report on 2 sibs with severe microcephaly and unusual associated manifestations. The brother has borderlinehormal intelligence, episodic seizures, clumsiness, and the more severe of facial manifestations; the sister has normal IQ and neither seizures nor behavior abnormalities. Small ears, markedly protruding midface, curved nose, and severe retrognathia are present in both sibs. We postulate that our patients have a “new” form of AR microcephaly, since normal intelligence is not found, nor are the associated findings as pronounced, as in other, more common forms of AR microcephaly (i.e., “microcephalia vera”). © 1995 Wiley‐Liss, Inc.
Partial monosomy of chromosome 1p36.3: Characterization of the critical region and delineation of a syndrome
Authors: Reish Orit , Berry Susan A. , Hirsch Betsy 
Published: June 2005

AbstractWe describe 5 patients ranging in age from 3 to 47 years, with karyotypic abnormalities resulting in monosomy for portion of 1p36.3, microcephaly, mental retardation, prominent forehead, deep‐set eyes, depressed nasal bridge, flat midface, relative prognathism, and abnormal ears. Four patients have small hands and feet. All exhibited selfabusive behavior. Additional findings in some of the patients include brain anomalies, optic atrophy, hearing loss and skeletal deformities. The breakpoints within chromosome 1 were designated at 1p36.31 (3 cases), 1p36.32 (1 case) and 1p36.33 (1 case), Thus, the smallest region of deletion overlap is 1p36.33→1pter. Detection of the abnormal 1 relied on high resolution G‐band analysis. Fluorescence in situ hybridization (FISH) utilizing a DNA probe (Oncor D1Z2) containing the repetitive sequences in distal 1p36, confirmed a deletion of one 1 homologue in all 5 cases. The abnormal 1 resulted from a de novo deletion in only one patient. The remaining patients were either confirmed (3 cases) or suspected (1 case) to have unbalanced translocations. Despite the additional genetic imbalance present in these four cases, monosomy of 1p36.33 appears to be responsible for a specific clinical phenotype. Characterization of this phenotype should assist in the clinical diagnosis of this chromosome abnormality. © 1995 Wiley‐Liss, Inc.
Analysis of clinical variation seen in patients with 18q terminal deletions
Authors: Strathdee Gordon , Zackai Elaine H. , Shapiro Ray , Kamholz John , Overhauser Joan 
Published: June 2005

AbstractTwenty‐six patients with deletions of 18q were analyzed at the clinical and molecular levels in an attempt to delineate regions of chromosome 18 important to the 18q– syndrome phenotype. Molecular cytogenetic analysis was carried out using fluorescence in situ hybridization (FISH), and deletions ranging from 18q21.1–qter to 18q22.3–qter were detected. The parental origin of the deletions was determined by the analysis of inheritance of microsatellite markers. No correlation between size, parental origin, or severity of the resulting phenotype was found. The results suggest that a critical region for the 18q– syndrome lies in the most distal portion of 18q and that it confers susceptibility for the various clinical manifestations of the 18q– syndrome when present in one copy. © 1995 Wiley‐Liss, Inc.
Linkage between stature and a region on chromosome 20 and analysis of a candidate gene, bone morphogenetic protein 2
Authors: Thompson D. Bruce , Ossowski Victoria , Janssen Rachel C. , Knowler William C. , Bogardus Clifton 
Published: June 2005

AbstractSib‐pair linkage analysis of the quantitative trait, stature, in over 500 Pima Indians indicates that a genetic determinant of governing stature is located on chromosome 20. Analysis of 10 short tandem repeat polymorphisms localized this linkage to a 3.2cM region that includes D20S98 and D20S66. Using all possible sib‐pair combinations, linkage was detected to both stature (P = 0.0001) and to leg length (P = 0.001), but not to sitting height. Single‐strand conformational polymorphism analysis of exon 3 of the bone morphogenetic protein 2 (BMP2) gene, a candidate gene in this region, in genomic DNA of 20 of the tallest and 20 of the shortest individuals did not show any consistent differences associated with leg length or height. Sequence analysis of the region encoding the mature protein revealed a single nucleotide substitution, a T to G transversion, not detected by single‐strand conformational polymorphism (SSCP) analysis. This transversion results in a conservative amino acid substitution of glycine for valine at codon 80 of BMP2. The frequency of this allele was 0.23 in the sample. No significant differences in height were noted in persons carrying either allele. This indicates that this structural alteration in the mature BMP2 protein does not contribute to the differences in stature observed in the Pima Indians, nor is this structural change in the mature protein likely to be responsible for the linkage observed with stature on chromosome 20. © 1995 Wiley‐Liss, Inc.This article is a U.S. Government work and, as such, is in the public domain in the United States of America.
SSCP analysis and sequencing of the human prion protein gene (PRNP) detects two different 24 bp deletions in an atypical Alzheimer's disease family
Authors: Perry R. T. , Go R. C. P. , Harrell L. E. , Acton R. T. 
Published: June 2005

AbstractAlzheimer's disease (AD) is a progressive, degenerative neurological disorder of the central nervous system. AD is the fourth leading cause of death in elderly persons 65 years or older in Western industrialized societies. The etiology of AD is unknown, but clinical, pathological, epidemiological, and molecular investigations suggest it is etiologically heterogeneous. Mutations in the amyloid protein are rare and segregate with the disease in a few early‐onset familial AD (FAD) families. Similarities between AD and the unconventional viral (UCV) diseases, and between the amyloid and prion proteins, implicate the human prion protein gene (PRNP) as another candidate gene. Single strand conformation polymorphism (SSCP) analysis was used to screen for mutations at this locus in 82 AD patients from 54 families (30 FAD), vs. 39 age‐matched controls. A 24‐bp deletion around codon 68 that codes for one of five Gly‐Pro rich octarepeats was identified in two affected sibs and one offspring of one late‐onset FAD family. Two other affected sibs, three unaffected sibs, and three offspring from this family, in addition to one sporadic AD patient and three age‐matched controls, were heterozygous for another octarepeat deletion located around codon 82. Two of the four affected sibs had features of PD, including one who was autopsy‐verified AD and PD. Although these deletions were found infrequently in other AD patients and controls, they appear to be a rare polymorphism that is segregating in this FAD family. It does not appear that mutations at the PRNP locus are frequently associated with AD in this population. © 1995 Wiley‐Liss, Inc.
Clinical features of early onset, familial Alzheimer's disease linked to chromosome 14
Authors: Mullan Michael , Bennett Craig , Figueredo Cecilia , Hughes David , Mant Rebecca , Owen Michael , Warren Andrew , McInnis Melvin , Marshall Anne , Lantos Peter , Collinge John , Goate Alison , Houlden Henry , Crawford Fiona 
Published: June 2005

AbstractEarly onset familial Alzheimer's disease (AD) has an autosomal dominant mode of inheritance. Two genes are responsible for the majority of cases of this subtype of AD. Mutations in the β‐amyloid precursor protein (βAPP) gene on chromosome 21 have been shown to completely cosegregate with the disease. We and others have previously described the clinical features of families with βAPP mutations at the codon 717 locus in an attempt to define the phenotype associated with a valine to isoleucine (Val → Ile) or a valine to glycine (Val → Gly) change. More recently, a second locus for very early onset disease has been localized to chromosome 14. The results of linkage studies in some families suggesting linkage to both chromosomes have been explained by the suggestion of a second (centromeric) locus on chromosome 21. Here we report the clinical features and genetic analysis of a British pedigree (F74) with early onset AD in which neither the βAPP locus nor any other chromosome 21 locus segregates with the disease, but in which good evidence is seen for linkage on the long arm of chromosome 14. In particular we report marker data suggesting that the chromosome 14 disease locus is close to D14S43 and D14S77. Given the likelihood that F74 represents a chromosome 14 linked family, we describe the clinical features and make a limited clinical comparison with the βAPP717 Val → Ile and βAPP717 Val → Gly encoded families that have been previously described. We conclude that although several previously reported clinical features occur to excess in early onset familial AD, no single clinical feature demarcates either the chromosome 14 or βAPP codon 717 mutated families except mean age of onset. © 1995 Wiley‐Liss, Inc.
Genetic threshold hypothesis of neocortical spike‐and‐wave discharges in the rat: An animal model of petit mal epilepsy
Authors: Vadász C. , Carpi D. , Jando G. , Kandel A. , Urioste R. , Horváth Z. , Pierre E. , Vadi D. , Fleischer A. , Buzsáki G. 
Published: June 2005

AbstractNeocortical high‐voltage spike‐and‐wave discharges (HVS) in the rat are an animal model of petit mal epilepsy. Genetic analysis of total duration of HVS (s/12 hr) in reciprocal F1 and F2 hybrids of F344 and BN rats indicated that the phenotypic variability of HVS cannot be explained by a simple, monogenic Mendelian model. Biometrical analysis suggested the presence of additive, dominance, and sex‐linked‐epistatic effects, buffering maternal influence, and heterosis. High correlation was observed between average duration (s/episode) and frequency of occurrence of spike‐and‐wave episodes (n/12 hr) in parental and segregating generations, indicating that common genes affect both duration and frequency of the spike‐and‐wave pattern. We propose that both genetic and developmental‐environmental factors control an underlying quantitative variable, which, above a certain threshold level, precipitates HVS discharges. These findings, together with the recent availability of rat DNA markers for total genome mapping, pave the way to the identification of genes that control the susceptibility of the brain to spike‐and‐wave discharges. © 1995 Wiley‐Liss, Inc.
Genetic linkage analysis of schizophrenia using chromosome 11q13–24 markers in Israeli pedigrees
Authors: Mulcrone Janet , Whatley Stephen A. , Marchbanks Roger , Wildenauer Dieter , Altmark David , Daoud Hasib , Gur Eitan , Ebstein Richard P. , Lerer Bernard 
Published: June 2005

AbstractIt is generally agreed that there is a genetic component in the etiology of schizophrenia which may be tested by the application of linkage analysis to multiply‐affected families. One genetic region of interest is the long arm of chromosome 11 because of previously reported associations of genetic variation in this region with schizophrenia, and because of the fact that it contains the locus for the dopamine D2 receptor gene. In this study we have examined the segregation of schizophrenia with microsatellite dinucleotide repeat DNA markers along chromosome 11q in 5 Israeli families multiply‐affected for schizophrenia. The hypothesis of linkage under genetic homogeneity of causation was tested under a number of genetic models. Linkage analysis provided no evidence for significant causal mutations within the region bounded by INT and D11S420 on chromosome 11q. It is still possible, however, that a gene of major effect exists in this region, either with low penetrance or with heterogeneity. © 1995 Wiley‐Liss, Inc.
Role of genetic factors in depression based on studies of Tourette syndrome and ADHD probands and their relatives
Authors: Comings David E. 
Published: June 2005

AbstractTourette syndrome (TS) is a common, neuropsychiatric disorder which has many similarities to attention deficit hyperactivity disorder (ADHD). TS probands have a high frequency of a variety of behavioral disorders including depression. The depression may be due to a pleiotrophic effect of the Gts genes, proband ascertainment bias, or a result of coping with the chronic tics. To distinguish between these hypotheses we examined the responses to 17 Diagnostic Interview Schedule questions to evaluate the 9 DSM‐III‐R criteria for major depressive episode in 1,080 adults consisting of TS and ADHD probands, their relatives and controls. Using a Bonferonni corrected p there was a significant progressive increase in 16 of 17 depressive symptoms and for a life time history of a major depressive episode in groups with increased genetic loading for Gts genes. Similar trends were seen in the small number of ADHD probands and their relatives. There was also a significant increase for these variables in non‐proband TS relatives versus non‐TS relatives, indicating the association of depression with Gts genes was not due to ascertainment bias or the inappropriate choice of controls. Multiple linear regression analysis indicated that obsessive‐compulsive behaviors, sex, ADHD, drug abuse, and age all showed a more significant effect on depressive symptoms than the number of tics. The presence or absence of TS in the relatives had a much greater effect on risk for depression than the presence or absence of an episode of major depression in the proband. These results are consistent with the hypothesis that Gts and ADHD genes play a major role in depression. © 1995 Wiley‐Liss, Inc.