bluuebunny/crossref_metadata_2025_split huggingface dataset:
Unusual lymphangioma observed prenatally in a 45,X fetus
Authors: Haeusler Martin C. H. , Ryan Greg , Sams Virginia , Robson Stephen C. , Young Martin , Sullivan Ian D. , Lipitz Shlomo , Rodeck Charles H. 
Published: June 2005

AbstractWe present a case of a large frontal lesion, suspected on antenatal ultrasound to be a cephalocele. The cardiac anatomy was abnormal and fetal blood sampling showed a 45,X chromosome constitution. Postmortem examination proved this to be a lymphangioma and confirmed the presence of a cardiac defect. We suggest that this lymphangioma represents an unusual manifestation of monosomy X and discuss the importance of doing chromosome analysis in the presence of such a lesion which is of similar appearance as a cephalocele. © 1993 Wiley‐Liss, Inc.
Pleiotropy in Coffin‐Lowry syndrome: Sensorineural hearing deficit and premature tooth loss as early manifestations
Authors: Hartsfield James K. , Hall Bryan D. , Grix Arthur W. , Kousseff Boris G. , Salazar Jose F. , Haufe Scott M. W. 
Published: June 2005

AbstractWe report on 7 patients (6 M, 1 F) with Coffin‐Lowry syndrome who have a sensorineural hearing deficit in addition to developmental delay and characteristic facial changes. One of the patients also had a history of premature exfoliation of primary teeth. These are previously unappreciated clinical signs that may aid in the early diagnosis of Coffin‐Lowry syndrome. Early diagnosis and recognition of a hearing deficit in the patient can lead to the use of hearing aids to help the patient achieve his or her full potential. These “;new”; clinical manifestations expand the phenotype of Coffin‐Lowry syndrome and constitute an additional indication of pleiotropy. © 1993 Wiley‐Liss, Inc.
Fryns syndrome
Authors: Stratton Robert F. , Young Robert S. , Heiman Howard S. , Carter Jan M. 
Published: June 2005

AbstractWe report on a premature female infant with Fryns syndrome who had several less commonly reported anomalies. She had bilateral posterior eventration of the hemidiaphragms instead of the usual diaphragmatic defects with visceral herniation into the chest cavity. She also had a unilateral cleft lip, camptodactyly, duodenal atresia, tracheomalacia, bronchomalacia, and Tetralogy of Fallot. © 1993 Wiley‐Liss, Inc.
Familial interstitial deletion 11(p11.12p12) associated with parietal foramina, brachymicrocephaly, and mental retardation
Authors: Shaffer Lisa G. , Hecht Jacqueline T. , Ledbetter David H. , Greenberg Frank 
Published: June 2005

AbstractParietal foramina may be an isolated autosomal dominant trait or found in syndromes. We report on two related individuals who have multiple anomalies with parietal formaina and the deletion of 11(p11.12p12) due to the inheritance of a derivative chromosome 11 from an insertional translocation dir ins(13;11)(q14.1;p11.12p12). Results of initial chromosome analyses on the proposita and her maternal halfuncle were reported as normal. However, the clinical manifestations and family history suggested a chromosomal cause and cytogenetic studies were performed on the proposita's mother. A derivative chromosome 13 was initially identified and further evaluation documented a derivative 11 as the reciprocal product. This family illustrates the importance of performing chromosome studies on the normal intervening relatives in families with multiple affected individuals with mental retardation and minor anomalies as one of the two reciprocal products may be more easily detectable in a balanced carrier. Additionally, the finding of del(11)(p11.12p12) may provide a map location for a syndrome which includes parietal foramina. © 1993 Wiley‐Liss, Inc.
Age‐associated chromosome 21 loss in Down syndrome: Possible relevance to mosaicism and Alzheimer disease
Authors: Percy Maire E. , Markovic Vjerica D. , Dalton Arthur J. , McLachlan Donald R. C. , Berg Joseph M. , Rusk Ann C. M. , Somerville Martin J. , Chodakowski Barbara , Andrews David F. 
Published: June 2005

AbstractWe previously observed low level mosaicism (2–4% normal cells) in phytohemagglutinin‐stimulated peripheral blood lymphocytes (PBL) in 29% of a small group of elderly persons with Down syndrome (DS). An analysis of cytogenetic data on 154 trisomy 21 cases (age 1 day to 68 years) showed that the proportion of diploid cells in such cultures significantly increased (P < 0.005) with advancing age. Thus, the “;occult”; mosaicism in PBL of the elderly persons with DS is likely due to the accumulation of cells that have lost a chromosome 21. A consequence of chromosome 21 loss could be uniparental disomy of the 2n cells, a factor that might have significant biological consequences if some chromosome 21 genes are imprinted. Loss of a chromosome 21 from trisomic cells might result in tissue‐specific mosaicism and “;classical”; mosaicism in different age groups. Chromosome 21 loss might also be relevant to the development of Alzheimer‐type dementia in DS and in the general population. © 1993 Wiley‐Liss, Inc.
Aicardi syndrome, metastatic angiosarcoma of the leg, and scalp lipoma
Authors: Tsao Chang Y. , Sommer Annemarie , Hamoudi Ala B. 
Published: June 2005

AbstractAn infant girl with Aicardi syndrome, scalp lipomas, and angiosarcoma of a limb is reported. The cavernous hemangioma of the leg was benign when biopsied at age 5 months but became malignant at 11 months. Angiosarcoma caused multiple distant metastases which were evident at autopsy at age 19 months. This is the first case of Aicardi syndrome associated with lipoma and metastatic angiosarcoma. © 1993 Wiley‐Liss, Inc.
Paternal uniparental disomy in a child with a balanced 15;15 translocation and Angelman syndrome
Authors: Freeman S. B. , May K. M. , Pettay D. , Fernhoff P. M. , Hassold T. J. 
Published: June 2005

AbstractChromosome 15 (15q11‐q13) abnormalities cause two distinct conditions, Angelman syndrome (AS) and Prader‐Willi syndrome (PWS). We present the first case of a child with a balanced 15;15 translocation and AS in whom molecular studies were crucial in confirming a diagnosis. DNA polymorphisms demonstrated paternal uniparental disomy for chromosome 15, consistent with the diagnosis of AS. The molecular studies also showed the patient to be homozygous at all loci for which the father was heterozygous, suggesting that the structural rearrangement was an isochromosome 15q and not a Robertsonian translocation. © 1993 Wiley‐Liss, Inc.
Familial insulin resistant diabetes associated with acanthosis nigricans, polycystic ovaries, hypogonadism, pigmentary retinopathy, labyrinthine deafness, and mental retardation
Authors: Boor R. , Herwig J. , Schrezenmeir J. , Pontz B. F. , Schönberger W. 
Published: June 2005

AbstractTwo sibs, whose parents are first cousins, had diabetes mellitus with hyperinsulinism, insensitive insulin receptors, and acanthosis nigricans. Both patients had pigmentary retinopathy, secondary cataracts, labyrinthine deafness, mental retardation, and cerebral atrophy. They were disproportionately short with relatively broad hands and feet and slightly coarse face. The young woman had secondary amenorrhea and polycystic ovaries and the boy gynecomastia and hypergonadotrophic hypogonadism. This appears to be the second family with a new autosomal recessive disorder differing from Alström syndrome by the presence of mental retardation and absence of renal insufficiency. Impaired insulin receptor binding and polycystic ovaries are described as part of this syndrome. © 1993 Wiley‐Liss, Inc.
Severe limb abnormalities: Analysis of a cluster of five cases born during a period of 45 days
Authors: van den Anker J. N. , van Vught E. E. , Zandwijken G. R. J. , Cohen‐Overbeek T. E. , Lindhout D. 
Published: June 2005

AbstractWe report on 5 individuals with severe limb abnormalities born in our hospital within a period of 45 days. Detailed clinical descriptions, photographs, and radiographs are presented. Etiological evaluations included genetic background, obstetric history, invasive procedures during pregnancy, maternal infectious diseases or maternal hyperthermia, drug use before and during pregnancy, and occupational or recreational exposures of both parents. © 1993 Wiley‐Liss, Inc.
Provisionally unique syndrome of ocular and ectodermal defects in two unrelated boys
Authors: Toriello Helga V. , Lacassie Yves , Droste Patrick , Higgins James V. 
Published: June 2005

AbstractWe describe an apparently new syndrome in 2 unrelated boys with aplasia cutis congenita, epibulbar dermoids, postnatally appearing areas of truncal hyperpigmentation, and macrocephaly. © 1993 Wiley‐Liss, Inc.
Mosaic dup (9p) diagnosed by fluorescence in situ hybridization (FISH)
Authors: Petty Elizabeth M. , Gibson Lisa H. , Breg W. Roy , Burns Jacqueline P. , Yang‐Feng Teresa L. 
Published: June 2005

AbstractWe describe a girl with some manifestations of the dup (9p) syndrome. High‐resolution Giemsa‐banded karyotype of her lymphocytes documented that she was mosaic with 80% of cells being 46,XX, and 20% 46,XX,‐20, + der(20;?) (p13;?). The additional material on 20p could not be defined clearly by high‐resolution Giemsa banding, as the banding pattern appeared consistent with either distal 9p or distal 13q. In order to make a definitive cytogenetic diagnosis, we used fluorescence in situ hybridization (FISH) with a chromosome 9 specific DNA library to establish that the origin of the additional chromosomal material on chromosome 20 was from 9p. FISH used in this situation enabled us to counsel the family specifically regarding the prognosis and manifestations of distal 9p duplication. © 1993 Wiley‐Liss, Inc.
Competing stochastic models of the incubation period: An investigation of age‐at‐diagnosis of familial and sporadic retinoblastoma
Authors: Philippe P. 
Published: June 2005

AbstractThis study is based on the assumption that the distribution of age‐at‐diagnosis (a synonym for the incubation period) of a disease can convey information with respect to its pathogenetic mechanisms. To this end, an analysis of 3 retinobastoma (RB) international data sets was undertaken The molecular and cellular basis of RB is well understood and may serve our purpose well. RB is broken down into familial bilateral, unilateral, and sporadic unilateral form. Survival and hazard functions were computed. Several competing stochastic models (up to 9 per RB form) were fit. Each conveyed a meaningful pathogenetic mechanism. Between‐model discrimination was achieved by examining chi‐square goodness‐of‐fit values to select the best fitting model. Well‐known survival models, such as the simple exponential and the lognormal (Sartwell model) were ruled out. Age‐at‐diagnosis of familial RB proved to be best explained by 2 interfering exponentials (a diffonential function); the logistic was retained as the best adjusted model of the incubation period of sporadic cases of RB. As to familial unilaterals, both the diffonential and the logistic models fit equally well. The 3 data sets are consistent in these results, ruling out the less well‐fit competing models The results suggest the existence of 2 opposing but independent balancing internal mechanisms at the origin of familial RB. Sporadic RB appears to be due to a single host‐dependent self‐limiting cellular mechanism. Familial unilaterals which share both of these component mechanisms would involve lower retinoblast turnover rate. The cellular implications of these findings are discussed with regard to the relative importance of endogenous and exogenous induction factors in RB. It is concluded that, according to the RB form, RB occurrence results from 2 cellular interfering forces of different strength and organization. © 1993 Wiley‐Liss, Inc.
Proteus syndrome with cardiomyopathy and a myocardial mass
Authors: Shaw Christopher , Bourke John , Dixon Joanne 
Published: June 2005

AbstractProteus syndrome is and overgrowth syndrome principally affecting cutaneous and skeletal tissues, accompanied by subcutaneous hamartomas. We report on a patient with predominantly skeletal and visceral involvement, including a cardiac mass and thickening of the myocardial septum affecting cardiac conduction and contraction. © 1993 Wiley‐Liss, Inc.
Autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias
Authors: Guttmacher Alan E. 
Published: June 2005

AbstractWe report on 3 individuals, a man and his son and daughter, who were born with prexial dificiencies of the hands and feet and postaxial polydactyly of the hands. Both males also had glandular hypospadias. Certain of these findings resemble those found in the hand‐foot‐genital syndrome; however, we conclude that this family has a hitherto unreported by a single gene defect of preaxial deficiencies and postaxial polydactyly in the same individual is of note. © 1993 Wiley‐Liss, Inc.
Single base mutation that substitutes glutamic acid for glycine 1021 in the COL3A1 gene and causes Ehlers–Danlos syndrome type IV
Authors: Narcisi Paolo , Wu Yuli , Tromp Gerard , Earley James J , Richards Allan J. , Pope F. Michael , Kuivaniemi Helena 
Published: June 2005

AbstractThe proposita described here was a 24‐year‐old woman with an acrogeric form of the Ehlers–Danlos syndrome including a massive dissecting aortic aneurysm. She was found to have a single‐base mutation that substituted glutamic acid for glycine at amino acid position 1021 in the triple‐helical domain of type III Procollagen. It is the most carboxyterminal single‐base mutation characterized to date in the COL3A1 gene. Analysis of medium and cell layer proteins from proposita's cultured skin fibroblasts showed that the mutant protein was poorly secreted, migrated more slowly on a polyacrylamide gel, and was partially unstable at +25°C to brief digestion with trypsin. © 1993 Wiley‐Liss, Inc.
Oral‐facial‐digital syndrome type I in a newborn male
Authors: Gillerot Yves , Heimann Marianne , Fourneau Catherine , Verellen‐Dumoulin Christine , Van Maldergem Lionel 
Published: June 2005

AbstractWe report on a newborn male, born at term with clinical manifestations of oral‐facial‐digital (OFD) syndrome type I. This syndrome is generally assumed to be inherited in an X‐linked dominant fashion with lethality in males. Therefor, liveborn males are exceptional. This liveborn ale also had Dandy‐walker malforation and polycystic kidneys.From a general point of view, distinction between the 8 types of (OFD) syndromes described so far appears subtle and considerable overlap exists between them. In this regard, it should be noted that polycystic kidneys different from adult polycystic kidney disease both macroscopically and microscopically are a frequent manifestation of OFD I. © 1993 Wiley‐Liss, Inc.
New form of spondyloepimetaphyseal dysplasia (SEMD) in Jewish family of Iraqi Origin
Authors: Shohat M. , Lachman R. , Carmi R. , Ziv J. Bar , Rimoin D. 
Published: June 2005

AbstractWe report a distinct type of spondyloepimetaphyseal dysplasia seen in 2 sibs and their second cousin, characterized by early onset severe short stature, small chest, and distended abdomen. They had short neck, severe lumbar lordosis, and marked genu varum due to fibular overgrowth and joint laxity. Radiographically, the patients had platyspondyly, initially noted during the first years of life, with central hypoplasia of the vertebral bodies. At a later age, the vertebrae appear squared with mild interpedicular narrowing. The long bone changes, which at early age resemble those seen in achondroplasia, later include general metaphyseal irregularities and significant epiphyseal ossification delay. These patients present a previously undescribed form of spondyloepimetaphyseal dysplasia, most probably transmitted as an autosomal recessive tract. © 1993 Wiley‐Liss, Inc.
Cultural and psychosocial considerations in screening for thalassemia in the Southeast Asian refugee population
Authors: Nidorf Jeanne F. , Ngo Kim‐Yen 
Published: June 2005

AbstractThe combination of a high incidence of thalassemia and a high fertility rate in the Southeast Asian refugee population mandates effective screening programs, but unique cultural and psychosocial factors often impede optimal screening and genetic counseling. This paper identifies cultural and psychosocial barriers often associated with refugee thalassemia screening, and offers practical guidelines for remediation. © 1993 Wiley‐Liss, Inc.
Kohlschütter‐Tönz syndrome: Epilepsy, dementia, and amelogenesis imperfecta
Authors: Zlotogora Joël , Fuks Anna , Borochowitz Zvi , Tal Yoram 
Published: June 2005

AbstractKohlschütter‐Tönz syndrome is a central nervous system (CNS) degenerative disease with convulsions and mental regression in which the affected children present with yellow teeth due to defective enamel. We present a family in which 2 affected children (a boy and a girl) were born to consanguineous parents. This report confirms the autosomal recessive inheritance of the disorder. The combination of a CNS and an enamel defect may represent pleiotropy or a contiguous gene syndrome. © 1993 Wiley‐Liss, Inc.
Exclusion of the neurofibromatosis 1 locus in a family with inherited café‐au‐lait spots
Authors: Brunner Han G. , Hulsebos Theo , Steijlen Peter M. , der Kinderen Daan J. , v.d. Steen A. , Hamel Ben C. J. 
Published: June 2005

AbstractWe have performed linkage analysis is a small family with autosomal dominant inheritance of multiple café‐au‐lait spots (CLS) in order to clarify its relationship to classical von Recklinghausen disease (NF 1). We found that an affected woman had transmitted a different haplotype for markers flanking the NF 1 gene to both of her affected daughters. These results exclude an allelic mutation of the NF 1 gene on chromosome 17 as the cause for inherited café‐au‐lait spots in this family. © 1993 Wiley‐Liss, Inc.
Newly recognized blepharofacioskeletal Syndrome
Authors: Richieri‐Costa A. , Guion‐Almeida M. L. , Rodini E. S. O. , Pereira S. C. S. , Cohen M. M. 
Published: June 2005

AbstractA mother and daughter are described with similar facial and skeletal manifestations. The syndrome consists of blepharophimosis, malar hypoplasia, small thin lips, and long tapering fingers. The facial phenotype changes with age. Autosomal dominant inheritance is suggested. © 1993 Wiley‐Liss, Inc.
Unbalanced translocation, t(18;21), detected by fluorescence in situ hybridization (FISH) in a child with 18q– syndrome and a ring chromosome 21
Authors: McGinniss Matthew J. , Rosenberg Carla , Stetten Gail , Schinzel Albert A. , Binkert Franz , Petersen Michael B. , Kearns William G. , Kazazian Haig H. , Pearson Peter L. , Antonarakis Stylianos E. 
Published: June 2005

AbstractWe report on an 8‐year‐old girl with minor anomalies consistent with 18q‐syndrome and mild developmental delay. Initially cytogenetics showed a terminal deletion of chromosome 21 with mosaicism for a small ring chromosome 21 as the only apparent karyotypic abnormality: mos 45,XX,‐21/46,XX,+r(21) (48%/52%). Further studies including FISH and DNA analysis demonstrated a denovo unbalanced translocation of chromosomes 18 and 21 with the likely breakpoints in 18q23 and 21q21.1. Most of 21q was translocated to the distal long arm of one chromosome 18, and this derivative 18 appeared to lack 18q23‐qter. The small ring chromosome 21 [r(21)], present in only 52% of the patient's blood lymphocytes, did not appear to be associated with the abnormal phenotype since all 13 chromosome 21 markers that were examined in genomic DNA were present in 2 copies, and the phenotype of the patient was consistent with the 18q – syndrome. The Karyotype was reinterpreted as mos 45,XX,–18,–21,+der(18) t(18;21) (q23;q21.1)/46,XX, –18, –21,+der(18) t(18;21) (q23;q21.1), +r(21) (p13q21.1) (48%/52%). These results demonstrate the power of FISH in conjunction with DNA analysis for examination of chromosome rearrangements that may be misclassified by traditional cytogenetic studies alone. © 1993 Wiley‐Liss, Inc.
DNA analysis of cystic fibrosis in Brazil by direct PCR amplification from Guthrie cards
Authors: Raskin S. , Phillips J. A. , Krishnamani M. R. S. , Vnencak‐Jones C. , Parker R. A. , Rozov T. , Cardieri J. M. , Marostica P. , Abreu F. , Giugliani R. , Reis F. , Rosario N. A. , Ludwig N. , Pilotto R. F. 
Published: June 2005

AbstractA 3 bp deletion of condon 508 (phenylalanine) of the cystic fibrosis (CF) gene constitutes the mutation of most CF chromosomes. The frequency of this mutation (referred to as ΔF508), varies considerably between populations, ranging form 26% of the CF mutations in Turkey to 88% in Denmark. To determine the frequency of the ΔF508 mutation in Brazilian Caucasoid CF patients, we used direct polymerase chain reacion (PCR) amplification of DNA obtained from dried blood spots on Guthrie cards, followed by ethidium bromide staining of gels. Although the overall frequency of the ΔF508 mutation was 47% of 380 CF chromosomes from Brazilian Caucasoids born in five different states, significant inter‐state differences were observed, ranging from a ΔF508 frequency of 27% to 53%. While our method could be used to screen patients and their relatives for carrier testing and prenatal diagnosis, the efficacy of screening only for the ΔF508 mutation would be low, and would vary from state to state. Screening for a panel of local mutations will be needed to increase the mutation detection rate and optimize genetic counseling. © 1993 Wiley‐Liss, Inc.
Regional mapping of the gene for familial Mediterranean fever on human chromosome 16p13
Authors: Fischel‐Ghodsian Nathan , Bu Xiangdong , Prezant Toni R. , Oeztas Sitki , Huang Zhi‐Shen , Bohlman M. Charlotte , Rotter Jerome I. , Shohat Mordechai 
Published: June 2005

AbstractFamilial Mediterranean fever (FMF) is an autosomal recessively inherited inflammatory disorder characterized by recurrent short spisodes of fever, peritonitis, arthritis, and pleuritis. Recently, linkage was demonstrated between FMF and the VNTR probes 3′HVR and 5′HVR of the α‐globin complex at 16p13.3 ( = 0.06−0.10, Lodmax = 9.76−14.47) and the insertion/deletion polymorphism detected by the probe CMM65 of D16S84 ( = 0.04, Lodmax = 9.17). WE have now mapped the FMF gene between the two flanking markers D16S283/D16S291 ( = 0.038) and D16S80 ( = 0.159). The proximity of the microsatellite markers in D16S283 and D16S291 to the FMF gene allows preclinical diagnosis in most pedigrees with affected individuals. © 1993 Wiley‐Liss, Inc.
Supravalvular aortic stenosis cosegregates with a familial 6;7 translocation which disrupts the elastin gene
Authors: Morris Colleen A. , Loker James , Ensing Gregory , Stock A. Dean 
Published: June 2005

AbstractSupravalvular aortic stenosis (SVAS) is an autosomal dominant disorder characterized by abnormalities of development of the great vessels. SVAS is also commonly part of Williams syndrome. Linkage to the elastin gene on chromosome 7q11 has recently been reported in two kindreds with SVAS. Previous reports of patients with 7q11 deletions have noted great vessel abnormalities in some. We report on a family in which SVAS is cosegregating with a balanced reciprocal translocation, t(6:7) (p21.1;q11.23), providing further evidence that SVAS is the result of mutation of elestin at 7q11.23 region. The propositus of the translocation family has some minor anomalies which occur in Williams syndrome, Suggesting that elestin abnormalities may cause some of the abnormalities found in Williams syndrome. © 1993 Wiley‐Liss, Inc. © 1993 Wiley‐Liss, Inc.