bluuebunny/crossref_metadata_2025_split huggingface dataset:
New autosomal recessive lethal disorder with polycystic kidneys type Potter I, characteristic face, microcephaly, brachymelia, and congenital heart defects
Authors: Gillessen‐Kaesbach Gabriele , Meinecke P. , Garrett Christine , Padberg Barbara Christina , Rehder Helga , Passarge E. 
Published: June 2005

AbstractWe report on 3 pairs of sibs from unrelated families, who present with polycystic kidneys Potter type I claimed to be specific for the ARPKD, and with microbrachycephaly, hypertelorism with telecanthus, large posteriorly angulated fleshy ears and various congenital malformations including congenital heart defects. We suggest that they represent a previously unrecognized autosomal recessive lethal developmental disorder within the group of infantile polycystic kidney disease and Potter sequence. © 1993 Wiley‐Liss, Inc.
New epiphyseal stippling syndrome with osteoclastic hyperplasia
Authors: Shohat Mordechai , Rimoin David L. , Gruber Helen E. , Lachman Ralph 
Published: June 2005

AbstractWe present a lethal skeletal dysplasia characterized radiographically by severe stippling of the lower spine and long bones and periosteal cloaking. In contrast to the normal morphology of the epiphyses and growth plates, the marrow was filled with loose fibrous tissue containing numerous large multinucleated osteoclasts which were associated with Howship's lacunae on the endosteal surface. We suggest the term “;Pacman dysplasia”; to describe this unusual histologic change that characterizes this new bone dysplasia. © 1993 Wiley‐Liss, Inc.
In situ hybridization shows direct evidence of skewed X inactivation in one of monozygotic twin females manifesting Duchenne muscular dystrophy
Authors: Zneimer Susan M. , Schneider Nancy R. , Richards C. Sue 
Published: June 2005

AbstractA novel combination of conventional and molecular cytogenetic techniques was used to investigate the expression of an X‐linked recessive disorder in one of monozygotic (MZ) twin females. These twins carry a deletion, approximately 300 kb in length, in one of their X chromosomes within the dystrophin gene, which is responsible for Duchenne muscular dystrophy (DMD) in one twin [Richards et al.: Am J Hum Genet 46:672–681, 1990]. A unique DNA fragment generated from an exon within this gene deletion was hybridized in situ to both twins' metaphase chromosomes, a probe which would presumably hybridize only to the normal X chromosome and not to the X chromosome carrying the gene deletion. Chromosomes were identified by reverse‐banding (R‐banding) and by the addition of 5‐bromodeoxyuridine (BrdU) in culture to distinguish early and late replicating X chromosomes, corresponding to active and inactive X chromosomes, respectively. Hybridization experiments showed predominant inactivation of the normal X chromosome in the twin with DMD. This is the first report showing direct evidence at the chromosome level of unequal inactivation of cytogenetically normal X chromosomes resulting in the manifestation of an X‐linked recessive disorder in one of monozygotic twin females. This study may now facilitate other research of unequal X inactivation and of females manifesting X‐linked recessive disorders. © 1993 Wiley‐Liss, Inc.
Complications in the genotypic molecular diagnosis of pseudo arylsulfatase A deficiency
Authors: Shen Ning , Li Zhen‐Guo , Waye John S. , Francis Gordon , Chang Patricia L. 
Published: June 2005

AbstractMetachromatic leukodystrophy (MLD) is a severe neurodegenerative disease associated with deficient arylsulfatase A activity. Biochemical confirmation of this disorder has been complicated by a clinically normal but enzymatically deficient variant, pseudo arylsulfatase‐A deficiency (PD). The PD mutation is associated with two A→G transitions in the arylsulfatase A gene. They can be detected simultaneously with a recently developed 3′‐mismatch polymerase chain reaction, hence providing a rapid method for genotypic identification and resolving ambiguities of carrier identification based solely on enzyme analyses. However, we now report further genotypic complexities in the molecular diagnosis of PD due to the occurrence of another variant in which only one of the two A→G mutations of the PD allele was present. This variant confers reduced but readily detectable enzyme activity and behaves as a silent allele in the 3′‐mismatch polymerase chain reaction, thus leading to conflicting and erroneous genotype assignments in a family in which both variants and MLD co‐exist. The inconsistency was resolved after pedigree validation and further molecular analyses in which the two A→G mutations were assayed separately with allele‐specific oligonucleotides. Because arylsulfatase A analysis is one of the most commonly requested lysosomal enzyme assays and the PD mutant allele frequency is high in the general population, complexities as described in this family may be a recurrent problem that can be solved only with combined enzymatic and detailed molecular analyses. © 1993 Wiley‐Liss, Inc.
ADULT‐syndrome: An autosomal‐dominant disorder with pigment anomalies, ectrodactyly, nail dysplasia, and hypodontia
Authors: Propping Peter , Zerres Klaus 
Published: June 2005

AbstractWe describe a family with at least seven living persons who are affected by an hitherto undescribed autosomal‐dominant syndrome with variable expression, bearing close resemblance to the EEC syndrome and related disorders. The main manifestations are hypodontia and/or early loss of permanent teeth, ectrodactyly, obstruction of lacrimal ducts, onychodysplasia, and excessive freckling. We propose the acronym ADULT (acro‐der‐mato‐ungual‐lacrimal‐tooth)‐syndrome for this condition. © 1993 Wiley‐Liss, Inc.
New X‐linked syndrome with severe mental retardation, severely impaired vision, severe hearing defect, epileptic seizures, spasticity, restricted joint mobility, and early death
Authors: Gustavson Karl‐Henrik , Annerén Göran , Malmgren Helena , Dahl Niklas , Ljunggren Carl‐Gustaf , Bäckman Hans 
Published: June 2005

AbstractA family with an X‐linked mental retardation syndrome involving seven children in two generations is reported. The syndrome includes microcephaly, severe mental retardation, optic atrophy with severely impaired vision or blindness, a severe hearing defect, spasticity, epileptic seizures, restricted movement of the large joints, and death in infancy or early childhood.We conclude that this is a distinct, previously unrecognized X‐linked mental retardation syndrome. © 1993 Wiley‐Liss, Inc.
Multiple craniofacial anomalies associated with an interstitial deletion of chromosome 1(q21‐>q25)
Authors: Leichtman Lawrence G. , Strum Daniel , Brothman Arthur R. 
Published: June 2005

AbstractWe present a patient with an interstitial deletion of the chromosome 1q21‐>q25 that was diagnosed by amniocentesis. Significant malformations included: microbrachycephaly, bilateral cleft lip and palate, micrognathia, short neck, and athyroidia. The autopsy results demonstrate an overlap with several other postnatally ascertained patients and document the phenotype prenatally. © 1993 Wiley‐Liss, Inc.
Familial segregation of cervical ribs, sprengel anomaly, preaxial polydactyly, anal atresia, and urethral obstruction: A new syndrome?
Authors: Frydman Moshe , Cohen Herman A. , Ashkenazi Arie , Varsano Itzhak 
Published: June 2005

AbstractIn a consanguineous Jewish family originating from Bombay, India, the propositus presented with anal atresia, micropenis, urethral obstruction with secondary prune belly, omphalocele, patent urachus, and cryptorchidism. The kidneys were dysplastic and he had the Potter phenotype with limb deformities. Additional findings included IUGR with microcephaly, congenital heart defects, spinal anomalies, and hypoplastic lungs.The mother and all three sisters had cervical ribs, and she and one sister had 11 pairs of thoracic ribs. The other two sisters had chronic immune thrombopenia. One of those had bilateral Sprengel deformity with homo‐vertebral bones, club feet, and microcephaly and the other sister also had unilateral preaxial hexadactyly.Although familial segregation of cervical ribs and Sprengel deformity has been reported, the association of the findings in this family is unique and may represent a new syndrome. X‐linked dominant transmission may explain the severe manifestations in the affected male, but other modes of inheritance may also apply. © 1993 Wiley‐Liss, Inc.
Chromosome cultures from human cartilage
Authors: Urioste Miguel 
Published: June 2005

AbstractChoosing the best post‐mortem biological tissue source for chromosomal studies is challenge for cytogeneticists. Acceptable cytogenetic results are difficult to obtain from macerated and necrosed tissues.This report describes a method that is carried out after enzymatic digestion of cartilage from human fetuses and infants. It is currently employed successfully in our laboratory and our experience has shown that human cartilage could well be the tissue of choice for cytogenetic studies in stillborn fetuses and dead infants. © 1993 Wiley‐Liss, Inc.
Severe nonspecific X‐linked mental retardation caused by a proximally Xp located gene: Intragenic heterogeneity or a new form of X‐linked mental retardation?
Authors: Passos‐Bueno Maria Rita , Byth Barbara C. , Rosenberg Sergio , Takata Reinaldo I. , Bakker Egbert , Beggs Alan H. , Pavanello Rita C. , Vainzof Mariz , Davies Kay E. , Zatz Mayana 
Published: June 2005

AbstractX‐linked mental retardation (XLMR) can be subdivided into syndromic and nonsyndromic or nonspecific. Patients with nonsyndroml XLMR show no characteristic manifestations, biochemical defects, or distinct fragile sites. Nevertheless, nonspecific XLMR seems to be heterogeneous. To determine the number and location of the genes responsible for XLMR, linkage studies in large pedigrees have to be performed. Here we report the data of linkage analysis in a large Brazilian family with 7 patients affected by a severe form of XLMR, with no other associated malformations. All the obligate carriers are normal. A close linkage without recombination (lod scores 1.95 and 3.25) was found between the disease locus and polymorphic DNA loci DXS255 (Xp11.22), DXS14 (Xp11.21). These results suggest tht the gene responsible for the disease in this family maps in the Xp11‐cent of the X chromosome. Positive lod score in this region have also been reported for other XLMR genealogie, but with a much milder phenotype. The possibility of intragenic or locus heterogeneity is discussed. © 1993 Wiley‐Liss, Inc.
Trisomy 4 in a fetus with cyclopia and other anomalies
Authors: Van Allen Margot I. , Ritchie Susan , Toi Ants , Fong Katherine , Winsor Elizabeth 
Published: June 2005

AbstractWe report on an 18‐week fetus with cyclopia, alobar holoprosencephaly, complex congenital heart defect, anal atresia, oligosyndactyly, cystic hygroma, and skeletal abnormalities with trisomy 4. Structural anomalies were detected on routine ultrasound of the pregnancy of a 17‐year‐old G3 P1 TAB1 woman with sickle cell trait. Trisomy 4 conceptuses usually miscary in the first trimester. We are aware of no other reports of a fetus with trisomy 4 and cyclopia. Causal association of chromosome abnormalities and holoprosencephaly sequence amay be more apparent in embryos and early fetuses than term fetuses because of poor viability of affected conceptuses. © 1993 Wiley‐Liss, Inc.
Detection of the cystic fibrosis delta‐F508 mutation at autopsy by site‐directed mutagenesis
Authors: Salcedo Mauricio , Chávez Margarita , Ridaura Cecilia , Moreno Manuel , Lezana José L. , Orozco Lorena 
Published: June 2005

AbstractIn Causasian populations cystic fibrosis (CF) is the most common autosomal recessive disorder. CF was previously considered rare in Mexico; however, the reported frequency is about 1% in autopsies. This discrepancy appears to be due to the inability to diagnose the illness during life. It is now known that in developing countries a great number of affected children die without the benefit of CF diagnosis and appropriate treatment. In this study we have used the PCR‐mediated sitedirected mutagenesis technique for the detection of the delta‐F508 mutation in a 6‐month old Mexican boy who died without definitive diagnosis. The tissue available from the child was a formaldehyde fixed paraffin‐embedded liver. We identified the delta‐F508 mutation in homozygous form in the propositus and in a heterozygous form in his parents. This represents the first report of CF molecular diagnosis in Mexico. © 1993 Wiley‐Liss, Inc.
Concordance and recessive inheritance of Leber congenital amaurosis
Authors: Lambert Scott R. , Sherman Stephanie , Taylor David , Kriss Anthony , Coffey Rebecca , Pembrey Marcus 
Published: June 2005

AbstractPedigrees were obtaines on 43 patients with confirmed Leber congenital amaurosis, a rare form of blindness caused by congenital dysfunction of the retina. All of the pedigrees were consistent with autosomal recessive inheritance and the segregation frequency using classical segregation analysis was 0.24 ± 0.07. Six of the 7 affected sib pairs were concordant in regards to systemic abnormalities. Despite previous reports that Leber congenital amaurosis can be inherited either as an autosomal dominant or recessive condition, our findings support only an autosomal recessive inheritance of this disorder. © 1993 Wiley‐Liss, Inc.
Rubinstein–Taybi syndrome with thymic hypoplasia
Authors: Kimura Hiroshi , Ito Yohko , Koda Yoshiro , Hase Yutaka 
Published: June 2005

AbstractWe report the autopsy findings in a 20‐month‐old boy with Rubinstein–Taybi syndrome and DiGeorge sequence. No Visible thymus was demonstrated at the time of autopsy. With careful microscopic examination, a few pieces of thymic tissues found near the thyroid gland showed remarkable depletion of both thymocytes and cortical epithelial cells. Immunohistological stanining with T‐cell. Surface antigens resulted in adefinite positive reaction. Repeated respiratory infections present in this patient may, in part, be attributable to thymic hypoplasia. Other major anomalies included broad thumbs and great toes, microphthalmia, arrhinencephaly, patent ductus arteriosus, stenosis of the uretero‐vesicular junction, bilateral cryptorchidism, and minor facial anomalies. © 1993 Wiley‐Liss, Inc.
Recombinant chromosome 9 possibly derived from breakage and reunion of sister chromatids within a paracentric inversion loop
Authors: Phelan Mary C. , Stevenson Roger E. , Anderson E. Vernon 
Published: June 2005

AbstractChromosomally unbalanced offspring resulting from the recombination of parental paracentric inversions are uncommon. We report on a 20‐month‐old boy with a partial duplication of 9p due to the recombination of a paternal paracentric inversion. The patient's recombinant chromosome was designated rec(9)(p13→p24::p12→p24::p12→qtr). The patient's father and paternal aunt have a paracentric inversion of chromosome 9:inv(9)(p13p24). Although several mechanisms have been proposed to explain the chromosome imbalance generated from paracentric inversions, none of the previously described mechanisms can account for the structure of the recombinant chromosome observed in the propositus. We propose an unusual mechanismas of formation involving breakage and unequal reunion of sister chromatids within the inversion loop to explain the structure of the patient's recombinant chromosome. © 1993 Wiley‐Liss, Inc.
Inguinal hernia and atrial septal defect in tel Hashomer camptodactyly syndrome: Report of a new case expanding the phenotypic spectrum of the disease
Authors: Franceschini P. , Vardeu M. P. , Signorile F. , Testa A. , Guala A. , Franceschini D. , Dalforno L. 
Published: June 2005

AbstractWe report on a girl with Tel Hashomer camptodactyly syndrome (THCS) born to first‐cousin parents. In addition to the usual findings, the patient had bilateral inguinal hernia and atrial septal defect, not previously described as component manifestations of the syndrome.The present description expandns the phenotypic spectrum of the syndrome and gives new support to the hypothesized pleiotropic effects of the THCS gene on connective tissue. © 1993 Wiley‐Liss, Inc.
Fronto‐nasal dysostosis, callosal agenesis, crossed‐fused ectopia, tibial hemimelia, and preaxial polydactyly of feet: Severe expression of the acrocallosal syndrome?
Authors: Sueldo G. , Fernandes M. C. 
Published: June 2005

AbstractWe report on a girl with frontonasal “dysostosis,” callosal agenesis, crossed‐fused ectopia, tibial hemimelia, and preaxial polydactyly of feet. This pattern of the developmental defects suggests a severe form of the acrocallosal syndrome. Implications for genetic counselling are discussed. © 1993 Wiley‐Liss, Inc.
Mental retardation locus in Xp21 chromosome microdeletion
Authors: Fries Melissa H. , Lebo Roger V. , Schonberg Steven A. , Golabi Mahin , Seltzer William K. , Gitelman Stephen E. , Golbus Mitchell S. 
Published: June 2005

AbstractXp21 microdeletion syndrome is associated with variable size Xp21 deletions that usually include the glycerol kinase locus. The clinical phenotypes we studied in this chromosome region include: Xpter – Åland Island eye disease (AIED) ‐adrenal hypoplasia (AH) ‐glycerol kinase (GKD) ‐Duchenne muscular dystrophy (DMD) ‐retinitis pigmentosa (RP) ‐ornithine transcarbamylase (OTC) ‐centromere. In a compilation of 18 individuals in 14 families with the AH, GKD, and DMD loci deleted, 17 were male and all were developmentally delayed. In contrast, we report mentally retarded female carriers in two Xp21 deletion syndrome families with DMD, GKD, and AH in affected males. In the first family with normal karyotypes, a submicroscopic deletion was associated with DMD in the retarded male and with retardation in carrier females. In the second family an X chromosome with a cytogenetically deleted Xp21 distal to the OTC and RP genes segregated in the affected male and retarded female carriers. DNA analysis at the DMD locus verified the cytogenetic findings. This report of mental retardation in otherwise asymptomatic female carriers of Xp21 deletion classifies one form of mental retardation in females. © 1993 Wiley‐Liss, Inc.
Monitoring for new multiple congenital anomalies in the search for human teratogens
Authors: Khoury Muin J. , Botto Lorenzo , Waters Grady D. , Mastroiacovo Pierpaolo , Castilla Eduardo , Erickson J. David 
Published: June 2005

AbstractThe ability of birth defects monitoring to detect new human teratogenic and mutagenic agents may be limited if only isolated defects are monitored. Surveillance for “new” multiple congenital anormalies (MCA) may improve the detection of environmental agents associated with new defect patterns. To evaluate the feasibility of such monitoring, we examined data from two programs:1) the Metropolitan Atlanta Congenital Defects Program (MACDP), which ascertains infants with serious defects diagnosed in the first year of life, and, 2) the Italian Multicenter Register for Congenital Malformations (IPIMC), which ascertains newborn infants with birth defects from many hospitals in Italy. We focused on 24 relatively serious defects and defect groups. For a baseline period (MACDP: 1968–1988, 581,000 births; IPIMC: 1986–1989, 448,000 births), We identified all possible combinations of defects occurring in the same baby. For a test period (MACDP: 1989–1990, 77,000 births; IPIMC: 1990, 91,500 births), we identified babies with “new” MCA (i.e., combinations of defects not observed before in the system). During this period in MACDP, of the 85 babies with two or more defects, 9 babies had new MCAs. In IPIMC, of the 54 babies with two or more defects, 10 babies had new MCAs. A review of the records of infants with new MCAs in MACDP and IPIMC did not identify commonalities in maternal characteristics. This analysis illustrates the feasibility of monitoring for new MCAs in surveillance systems. This approach, complemented by an evaluation of exposures, may be a powerful additional tool in searching for human teratogens and mutagens. © 1993 Wiley‐Liss, Inc.
Congenital defects of the limbs in stillbirths: Data from a population‐based study
Authors: Froster Ursula G. , Baird Patricia A. 
Published: June 2005

AbstractWe analyzed limb deficiencies occurring in stillbirths with congenital anomalies registered in the Health Surveillance Registry of British Columbia between the years 1964 and 1984. Thirty stillborn infants presenting with various defects of the limbs were found during this time, giving an incidence of 39.52 in 10,000 stillbirth (1:253). This incidence is significantly higher than the incidence among liveborn individuals in the Province (5.97 in 10,000 livebirths or 1:1,842). Most cases involved the upper limbs, and most frequently the radius. Additional anomalies were present in 77% of cases, compared to 48% in liveborns. The study of stillbirth with congenital anomalies provides important information regarding the spectrum of birth defects seen in this group. This may be of relevance because of improved survival possibilities due to advances in perinatal care. © 1993 Wiley‐Liss., Inc. © 1993 Wiley‐Liss, Inc.
Terminal transverse limb defects and early chorionic villus sampling: Evaluation of 4,300 cases with completed follow‐up
Authors: Jahoda Milena G. J. , Brandenburg Helen , Cohen‐Overbeek Titia , Los Frans J. , Sachs Eva S. , Wladimiroff Juriy W. 
Published: June 2005

AbstractData from 4,300 consecutive cases following prenatal diagnosis by transcervical (TC) CVS (n = (1,570) and transabdominal (TA) CVS (n = 2,370) were evaluated. In the follow‐up study only infants examined by a physician were included. Gestational age varied between 8.5 and 11.6 weeks (mean 10.3 weeks) for TC‐CVS and between 9.3 and 20 weeks (mean 12.3 weeks) for TA‐CVS 98% of TC‐CVS was performed at 9–10 weeks, 80.7% of TA‐CVS procedures were carried out at 12–15 weeks. Selective termination took place in 97 cases of TC‐CVS (6.1%) and in 72 cases of TA‐CVS (2.6%). Another 8 Women had a termination for psychosocial reasons, resulting in 4,123 (1,469 TC, 2,645 TA) continuing pregnancies. The overall fetal loss rare <28 weeks was 5.4% (n = 80) for TC‐CVS and 2.6% (n = 70) for TA‐CVS. The overall incidence of congenital abnormalities after birth was 0.9%. Two terminal transversal limb defects were detected in the TC‐CVS group (0.14%) against one (0.04%) in the TA‐CVS group. © 1993 Wiley‐Liss, Inc.
Mosaic isochromosome 8p
Authors: Tilstra David J. , Grove Marcia , Spencer Anne C. , Norwood Thomas H. , Pagon Roberta A. 
Published: June 2005

AbstractFindings in a patient with mosaic isochromosome 8p are compared with those of previously reported cases. There were no distinguishing findings on physical examination; all had cognitive delays, especially in speech and language development. © 1993 Wiley‐Liss, Inc.
Reproductive risk in mating between two translocation carriers: Case report and review of the literature
Authors: Tsuji Kazushiro , Narahara Kouji , Yokoyama Yuji , Ninomiya Shinsuke , Yonesawa Suguru , Hiramatsu Yuji , Masaoka Hiroshi , Kudo Naofumi , Seino Yoshiki 
Published: June 2005

AbstractWe conducted a study to determine the reproductive risk in a couple who were translocation carriers. This couple, who carried balanced reciprocal translocations, experienced habitual abortions. The wife had a karyotype of 46,XX,t(7;13)(p15.3;q12.3) and the husband of 46,XY,t(1;7)(p11.1;p11.1). Chromosome study of their fourth abortus demonstrated a chimera consisting of two cell lines with a 46,XY and a 46,XX,t(1;7)(p11.1;p11.1)pat, −13, +der(7)t(7;13)(15.3;q12.3)mat, karyotype. A review of the literature indicates that the risk of having unbalanced live offspring or of spontaneous abortion/stillborns is similar in couples in whom both were translocation carriers and in couples in whom one individual was a translocation carrier. The apparent lack of increased reproductive failure may result from the selective disadvantage of aneusomic gametes at fertilization or very early spontaneous abortions of unbalanced conceptuses. © 1993 Wiley‐Liss, Inc.