bluuebunny/crossref_metadata_2025_split huggingface dataset:
L206W mutation of the cystic fibrosis gene, relatively frequent in French Canadians, is associated with atypical presentations of cystic fibrosis
Authors: Rozen Rima , Ferreira‐Rajabi Leonor , Robb Laura , Colman Neil 
Published: June 2005

AbstractCystic fibrosis is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Over 400 mutations have been reported at this locus. Although severe forms of cystic fibrosis are usually associated with pancreatic insufficiency, pulmonary dysfunction, and elevated sweat chloride, there is a wide range of phenotypes, including congenital absence of the vas def‐erens, observed with some of the milder mutations. The L206W mutation, which was first identified in patients from South France, is relatively frequent in French Canadians from Quebec. In this report, we document the atypical form of cystic fibrosis associated with this mutation, in a cohort of 7 French Canadian probands. © 1995 Wiley‐Liss, Inc.
Eleven polish patients with microcephaly, immunodeficiency, and chromosomal instability: The Nijmegen breakage syndrome
Authors: Chrzanowska K. H. , Kleijer W. J. , Krajewska‐Walasek M. , Białecka M. , Gutkowska A. , Goryluk‐Kozakiewicz B. , Michałkiewicz J. , Stachowski J. , Gregorek H. , Łysón‐Wojciechowska G. , Janowicz W. , Jóźwiak S. 
Published: June 2005

AbstractWe report on 11 patients from 8 independent families (3 pairs of sibs) with a complex clinical pattern including microcephaly, peculiar “bird‐like” face, growth retardation, and, in some cases, mild‐to‐moderate mental deficiency. Most of the patients have recurring respiratory tract infections. One girl has developed B‐cell lymphoma. A detailed anthropometric study of 15 physical parameters, including 3 cephalic traits, was performed. It was possible to study the chromosomes of PHA‐stimulated lymphocytes in all of the patients. We found structural aberrations with multiple rearrangements, preferentially involving chromosomes 7 and 14 in a proportion of metaphases in all individuals. Profound humoral and cellular immune defects were observed. Serum AFP levels were within normal range. Radioresis‐tant DNA synthesis was strongly increased in all 8 patients who were hitherto studied in this respect. Our patients fulfill the criteria of the Nijmegen breakage syndrome, which belongs to the growing category of ataxia telangiectasia‐related genetic disorders. In light of the increased predisposition to malignancy in this syndrome, an accurate diagnosis is important for the patient. © 1995 Wiley‐Liss, Inc.
Autosomal‐recessive inheritance of benign recurrent intrahepatic cholestasis
Authors: de Koning Tom J. , Sandkuijl Lodewijk A. , de Schryver Jan E. A. R. , Hennekam Eric A. M. , Beemer Frits A. , Houwen Roderick H. J. 
Published: June 2005

AbstractBenign recurrent intrahepatic cholestasis BRIO is a rare disorder characterized by recurrent episodes of cholestasis without permanent liver damage. Familial and sporadic cases have been described. Based on existing evidence, both autosomal‐recessive and autosomal‐dominant inheritance have been considered. We describe a large Dutch pedigree with 4 patients, strongly suggesting autosomal‐recessive inheritance. © 1995 Wiley‐Liss, Inc.
Cytogenetic and molecular analysis of a ring (21) in a patient with partial trisomy 21 and megakaryocytic leukemia
Authors: Palmer C. G. , Blouin J.‐L. , Bull M. J. , Breitfeld P. , Vance G. H. , Van Meter T. , Weaver D. D. , Heerema N. A. , Colbern S. G. , Korenberg J. R. , Antonarakis S. E. , Chen X. 
Published: June 2005

AbstractWe describe a patient with an asymmetric double ring 21 in mosaic form, 45,XX,‐21/46, XX,‐21,+r(21), who has limited manifestations of Down syndrome and who developed acute myelofibrosis and megakaryocytic leukemia (AMKL), FAB M7, a hematologic disorder particularly common in Down syndrome patients. In situ hybridization studies, gene dosage, and DNA polymorphism analysis showed that the ring chromosome carries a duplicated region which extends from D21S406 on the centromeric side and includes marker D21S3 on the telomeric side. FISH studies indicate two sizes of ring 21 in the patient. The origin of the supernumerary chromosome 21 in the proband was paternal; furthermore, the r(21) probably was formed postzygotically. Included in the duplicated segment are the candidate genes for leukemia AML‐1, ETS, and ERG. The potential significance of disomic homozygosity of loci on 21q in M7 megakaryocytic leukemia is discussed. © 1995 Wiley‐Liss, Inc.
Association between alleles of the transforming growth factor alpha locus and cleft lip and palate in the chilean population
Authors: Jara Lilian , Blanco Rafael , Chiffelle Italo , Palomino Hernan , Carreño Hernan 
Published: June 2005

AbstractTwo RFLPs at the TGFA locus were studied in 39 unrelated Chilean (Caucasoid‐Mongoloid) patients with non‐syndromic cleft lip/palate [CL(P)] and 51 control individuals. A highly significant association between BamHI A2 allele and CL(P) was detected (χ2 = 6.00; P = 0.014), while no association was found between TaqI RFLPs and clefting.No significant differences were found when comparing genotypes by type of cleft and a positive or negative family history of clefting. Our results seem to support rather definitively the association between TGFA and clefting but do not support the hypothesis that TGFA is a major causal gene of CL(P). © 1995 Wiley‐Liss, Inc.
Satoyoshi syndrome: An unusual postnatal multisystemic disorder
Authors: Ehlayel Mohammad S. , Lacassie Yves 
Published: June 2005

AbstractSatoyoshi syndrome is a rare disorder of unknown cause characterized by progressive, painful intermittent muscle spasms, malabsorption, alopecia, amenorrhea, and skeletal abnormalities mimicking a skeletal dysplasia. We describe a 19‐year‐old Caucasian woman with characteristic manifestations starting at age 9. The report of this patient confirms that this condition is not limited to the Asian population. © 1995 Wiley‐Liss, Inc.
Velo‐facio‐skeletal syndrome in a mother and daughter
Authors: Teebi Ahmad S. , Qumsiyeh Mazin B. , Meyers‐Seifer Cynthia H. , Meyn M. Stephen 
Published: June 2005

AbstractWe present a woman and her daughter with an apparently new short stature syndrome associated with facial and skeletal anomalies and hypernasality. Manifestations included hypertelorism with broad and high nasal bridge, epicanthal folds, narrow and high arched palate, mild mesomelic brachymelia, short broad hands, prominent finger pads, hyperextensibility of hand joints, small feet, nasal voice, and normal intelligence. The mother had short stubby thumbs and the daughter had posteriorly angulated ears and delayed bone age. The morphology of the nose and the hypernasality are reminiscent to those in the velo‐cardio‐facial syndrome. High resolution banding and fluorescent in situ hybridization studies showed no evidence of 22q11 deletions. Differentiation from Aarskog syndrome and Robinow syndrome is discussed. © 1995 Wiley‐Liss, Inc.
Kaufman oculocerebrofacial syndrome in a girl of 15 years
Authors: Briscioli V. , Manoukian S. , Selicorni A. , Livini E. , Lalatta F. 
Published: June 2005

AbstractKaufman oculocerebrofacial syndrome (KOS) is a rare autosomal recessive disorder characterized by severe mental retardation, microcephaly, long narrow face, ocular anomalies, and long thin hands and feet. To our knowledge only 8 cases have been reported so far, diagnosed at a mean age of 10 years. We report on a girl who was diagnosed at 15 years. Further phenotypic delineation is needed to improve diagnosis of this syndrome early in life. © 1995 Wiley‐Liss, Inc.
Hereditary disorders among Iranian Jews
Authors: Zlotogora Joël 
Published: June 2005

AbstractIranian Jews represent an ancient community with a very high degree of inbreeding. Although the community remained relatively isolated, it had strong ties with Babylonian Jewry in Iraq. Several genetic disorders have been reported to be frequent among Iranian Jews, in particular, corticosterone methyloxydase deficiency type II, polyglandular syndrome, and rimmed vacuole myopathy. Based on the data collected in our clinic, recessive and dominant deafness also appear to be frequent. Other diseases, such as β‐thalassemia, achromatopsia, colobomatous microphthalmia, Dubin‐Johnson syndrome, and congenital myasthenia gravis, were frequent in both the Iranian and Iraqi Jewish communities.The place of origin of the families within Iran and the results of molecular studies suggest some reason(s) for the high frequency of these disorders among Iranian Jews. While the high frequency of some of the disorders, such as corticosterone methyloxydase deficiency type II, represents a founder effect, in other diseases (such as β‐thalassemia) it was secondary to heterozygote advantage. © 1995 Wiley‐Liss, Inc.
Photoanthropometric study of craniofacial traits of individuals with Prader‐Willi syndrome
Authors: Butler Merlin G. , Levine Gabrielle J. , Le Jacqueline Y. , Hall Bryan D. , Cassidy Suzanne B. 
Published: June 2005

AbstractA photoanthropometric method, which enables an objective description of facial structures, was used to better delineate the craniofacial characteristics of 37 individuals with Prader‐Willi syndrome (PWS; 21 males and 16 females; 22 with 15q11q13 deletions and 15 with normal‐appearing chromosome 15s) between the ages of 0 to 12 years. Facial parameters were measured from strict frontal and profile photographic 35 mm slides and compared with other facial measurements from the same face (e.g., palpebral fissure width to bizygomatic diameter). We studied 16 photoanthropometric craniofacial indices following the protocols established by Stengel‐Rutkowski et al. [1984: Hum Genet 67:272–295] and Butler et al. [1988: Am J Med Genet 30:165–168]. Based on our measurements of 37 Prader‐Willi syndrome individuals, none of the parameters were consistently outside of the normal range when compared with photoanthropometric index standards for age established from white control children [Stengel‐Rutkowski et al., 1984]. However, several suggestive findings were documented by our analysis including: narrow palpebral fissure width [particularly in older children (6–12 years)], high midface, broad interalar distance, short back of the nose, prominent high chin, and broad low‐set ears. No significant differences were found in craniofacial parameters between deletion or nondeletion Prader‐Willi syndrome patients with this methodology. These craniofacial parameters (many not previously evaluated in PWS patients) may become useful for early detection, and aid in the diagnosis and the study of the development of the characteristic face seen in Prader‐Willi patients. © 1995 Wiley‐Liss, Inc.
Partial trisomy 13q identified by sequential fluorescence in situ hybridization
Authors: Rao V. V. N. Gopal , Carpenter Nancy J. , Gucsavas Muge , Coldwell James , Say Burhan 
Published: June 2005

AbstractWe report on a 19‐month‐old boy with partial trisomy 13q resulting from a probable balanced translocation involving chromosomes 1 and 13. The infant presented with omphalocele, malrotation, microcephaly with overriding skull bones, micrognathia, apparently low‐set ears, rocker‐bottom feet, and congenital heart disease, findings suggestive of trisomy 13. Karyotypic studies from peripheral blood lymphocytes documented an unbalanced karyotype 46,XY,−1, +der(1). The mother's chromosomes were normal, and the father was not available. Conventional cytogenetic techniques were unable to identify the extra material on the terminal 1q. Using fluorescence in situ hybridization (FISH) on the GTL‐banded metaphases, the extra material on 1q was identified as the terminal long arm of 13, thus resulting in partial trisomy 13 (q32–qter). © 1995 Wiley‐Liss, Inc.
Identical twins with Cohen syndrome
Authors: North Kathryn N. , Fulton Anne B. , Whiteman David A. H. 
Published: June 2005

AbstractWe report the first case of identical female twins who satisfy the proposed diagnostic criteria for Cohen syndrome. The sisters presented with retinal degeneration, obesity and mental retardation, and had the characteristic facial appearance. The manifestations of previously reported cases of Cohen syndrome are reviewed. Unusual changes in our patients include tall stature, macrocephaly, and transient cardiomyopathy during the first year of life. These anomalies have been reported previously in other patients with Cohen syndrome, and suggest that the disorder is phenotypically heterogeneous. Precocious puberty was present in both girls; the latter findings have not been reported previously in the Cohen syndrome. Detailed metabolic and cytogenetic analysis demonstrated no abnormalities. © 1995 Wiley‐Liss, Inc.
Renal dysplasia associated with in utero exposure to gentamicin and corticosteroids
Authors: Hulton Sally‐Anne , Kaplan Bernard S. 
Published: June 2005

AbstractWe report on a patient with renal cystic dysplasia, whose mother was given gentamicin and corticosteroids early in pregnancy. We speculate that these drugs may be implicated in abnormal nephrogenesis in humans. This speculation is based on gentamicin‐induced small kidneys (oligonephronia) in the rat. Renal cystic disease has been demonstrated following glucocorticoid administration early in gestation. We realize that there is no proof for a causal relationship between gentamicin and/or glucocorticoids in the pathogenesis of this patient's renal disease. However, it is possible that renal cystic dysplasia in humans is not solely the result of a genetic defect. © 1995 Wiley‐Liss, Inc.
Apparently new “anophthalmia‐plus” syndrome in sibs
Authors: Fryns Jean‐Pierre , Legius Eric , Moerman Philippe , Vandenberghe Kamiel , Van den Berghe Herman 
Published: June 2005

AbstractThe index patient of this report is a 17‐weekgestation female fetus with bilateral anophthalmia, bilateral cleft lip/cleft palate, macrotia with bilateral lateral facial cleft, large open sacral neural tube defect, and uterus unicornis. Parents were normal and nonconsanguineous with an unremarkable family history. Their first child, a 4‐year‐old boy, is normal. The second child, a 2 ½‐year‐old boy, has bilateral anophthalmia and an abnormal left ear with absent lobule as the sole additional anomaly. These 2 sibs seem to be the first examples of a new “anophthalmia‐plus” syndrome apparently inherited as autosomal‐recessive. © 1995 Wiley‐Liss, Inc.
Distal arthrogryposis type IIB: Further clinical delineation and 54‐year follow‐up of an index case
Authors: Friedman B. D. , Heidenreich R. A. 
Published: June 2005

AbstractDistal arthrogryposis IIB is characterized by contractures of the distal joints (especially of the fingers and toes) and ptosis. We recently encountered a father and son with these manifestations. The father was reported 54 years ago as a case of amyoplasia congenita (arthrogryposis multiplex congenita). Both father and son have distal joint contractures, most severe in the hands and feet, as well as ptosis and ophthalmoplegia. In addition, these patients have an unusual distribution of hair loss, and conical teeth. Whether these latter findings are related to the type of distal arthrogryposis present in this family is not known. In spite of their physical limitations both father and son have maintained an active life‐style. © 1995 Wiley‐Liss, Inc.
Linkage of preaxial polydactyly type 2 to 7q36
Authors: Hing Anne V. , Helms Cynthia , Slaugh Rachel , Burgess Andrea , Wang Jen C. , Herman Thomas , Dowton S. Bruce , Donis‐Keller Helen 
Published: June 2005

AbstractWe have characterized a 6‐generation North American Caucasian kindred segregating one form of preaxial polydactyly type 2 (PPD‐2). We demonstrate linkage to the 7q36 region and describe a submicroscopic telomeric chromosomal deletion in phase with the PPD‐2 phenotype. Recently, several kindreds segregating triphalangeal thumb (TPT) with and without associated hand anomalies (syndactyly and/or postaxial polydactyly) have also been linked to the subtelomeric region of chromosome 7q [Heutink et al., 1994: Nat Genet 6:287–291; Tsukurov et al., 1994: Nat Genet 6:282–286]. We demonstrate by haplotype analysis that our North American pedigree represents a PPD allele that is independent of the founder PPD allele present in the previously described kindreds. © 1995 Wiley‐Liss, Inc.
Microdontia with severe microcephaly and short stature in two brothers: Osteodysplastic primordial dwarfism with dental findings
Authors: Lin Henry J. , Sue Gregory Y. , Berkowitz Carol D. , Brasel Jo Anne , Lachman Ralph S. 
Published: June 2005

AbstractTwo brothers from a black family had microcephaly, short stature, and generalized microdontia. Endocrine and chromosome studies were normal, and mild skeletal manifestations were present. The patients may represent a distinct dental‐skeletal dysplasia, possibly osteodysplastic primordial dwarfism type II. Attention to dental manifestations in similar cases may be useful for classification. © 1995 Wiley‐Liss, Inc.
Clinical spectrum in homozygotes and compound heterozygotes inheriting cystic fibrosis mutation 3849+10kbC>T: Singnificance for geneticists
Authors: Gilbert Fred , Li Zhen , Arzimanoglou Iordanis , Bialer Martin , Denning Carolyn , Gorvoy Jack , Honorof Joyce , Ores Celia , Quittell Lynne , Rossoff Leonard , Valverde Kathleen 
Published: June 2005

AbstractWe describe patients inheriting cystic fibrosis (CF) mutation 3849+10kb>T as homozygotes of compound heterozygotes. Three unrelated homozygotes for this mutation were all pancreatic‐sufficient and sweat testnegative or inconclusive. Among the compound heterozygotes, both pancreatic sufficiency and insufficiency, as well as positive and negative/inconclusive sweat test results are reported, expanding the range of clinical expression associated with inheritance of this mutation. 3849+10kbC>T is one of several CF mutations that can result in atypical or variant forms of CF. For geneticists, the diagnosis of variant CF has implications for recurrence risk and prognosis counseling of the families of affected individuals, and possibly for CF carrier screening in the general population. © 1995 Wiley‐Liss, Inc.
Phenotypic manifestations of branchiootorenal syndrome
Authors: Chen Achih , Francis Mary , Ni Li , Cremers Cor W. R. J. , Kimberling William J. , Sato Yutaka , Phelps Peter D. , Bellman Susan C. , Wagner Michael J. , Pembrey Marcus , Smith Richard J. H. 
Published: June 2005

AbstractBranchiootorenal (BOR) syndrome is a variable, autosomal‐dominant disorder of the first and second embryonic branchial arches, kidneys, and urinary tract. We describe the phenotype in 45 individuals, highlighting differences and similarities reported in other studies. Characteristic temporal bone findings include cochlear hypoplasia (4/5 of normal size with only 2 turns), dilation of the vestibular aqueduct, bulbous internal auditory canals, deep posterior fossae, and acutely‐angled promontories. © 1995 Wiley‐Liss, Inc.
Risk prediction with linked markers: Theory
Authors: Rogatko André 
Published: June 2005

AbstractA Bayesian method to predict disease recurrence risks based on distance information between loci and allowing for uncertain gene location is presented. The methodology allows derivation of the posterior distribution of recurrence risks, from which point estimates and associated precision measures can be calculated. The resulting risk distribution accounts for all available information concerning location and relative distance, and can be updated as additional data become available. © 1995 Wiley‐Liss, Inc.
Asian hereditary neuropathy patients with peripheral myelin protein‐22 gene aneuploidy
Authors: Ohnishi Akio , Li Lan‐Ying , Fukushima Yoshimitsu , Mori Toshio , Mori Masataka , Endo Chiyoko , Yoshimura Takeo , Sonobe Masanobu , Flandermeyer Robert , Lebo Roger V. 
Published: June 2005

AbstractJapanese hereditary neuropathy with liability to pressure palsy (HNPP) patients have a deletion of one peripheral myelin protein‐22 (PMP22) gene region in distal chromosome band 17p11.2 as do Caucasian patients. Japanese and Asiatic Indian CMT1A patients have a PMP22 gene duplication that results in Charcot‐Marie‐Tooth disease type IA (CMT1A; HMSNIA) in patients of European and Middle Eastern ancestry. About 70% of Japanese CMT1 patients have a PMP22 duplication as do Caucasians, while Japanese CMT1B, CMT2 and Dejerine‐Sottas patients do not have PMP22 gene region aneuploidy. Although HNPP and CMT1A genotypes are generated simultaneously by unequal recombination that results in PMP22 gene aneuploidy in each daughter cell, only 3 Japanese HNPP probands with PMP22 deletion from a large patient population were referred to a single center compared to 18 referred CMT1A probands with PMP22 duplication. This lower HNPP frequency more likely reflects lower HNPP reproductive fitness than patient ascertainment bias because disease severity and variation in severity is about the same in CMT1A and HNPP patients and because all patients of both types were referred regardless of disease severity. These results, along with an apparently high de novo CMT1A mutation rate, suggest that common ancestors of Japanese, Asian Indians, and Caucasians carried PMP22 geneflanking sequences that enhance unequal crossing over. © 1995 Wiley‐Liss, Inc.
Non‐cardiac malformations in individuals with outflow tract defects of the heart: The Baltimore‐Washington infant study (1981–1989)
Authors: Lurie I. W. , Kappetein A. P. , Loffredo C. A. , Ferencz C. 
Published: June 2005

AbstractIn the Baltimore‐Washington Infant Study, a regional case‐control study of 4,390 liveborn infants with cardiovascular malformations (CVM), 642 patients (14.2%) had outflow tract abnormalities, with extracardiac defects in 157 (∼25%) of them. Associated defects were found in 1/3 of patients with normal great arteries, but only in 1/10 of patients with transposition of great arteries (TGA). The extracardiac defects were especially rare in the groups “TGA with intact ventricular septum” and “TGA with ventricular septal defect.” Patients with multiple associated defects outnumbered patients with isolated associated defects in the ratio 2.5:1. The associated defects were heterogeneous: 46 patients had chromosome abnormalities, 16 had different Mendelian syndromes, and 36 had associations (DiGeorge sequence and VACTERL association were the most frequent). A new syndrome of multiple congenital abnormalities including tetralogy of Fallot, and rare cases of chromosomal and Mendelian syndromes (distal trisomy 1q, tetrasomy 8p, Holzgreve syndrome) are described briefly. Sufficient variability of a spectrum of conotruncal defects in the patients with the same chromosomal or Mendelian syndromes suggests that at least in some cases different conotruncal defects are stages of the same morphologic spectrum. The analysis of conotruncal defects in sibs of patients with Mendelian syndromes may provide new data about the links between different definitive forms of CVM. © 1995 Wiley‐Liss, Inc.
Aplasia cutis congenita associated with limb, eye, and brain anomalies in sibs: A variant of the Adams‐Oliver syndrome?
Authors: Örstavik Karen Helene , Strömme Petter , Spetalen Sigmund , Flage Tor , Westvik Jostein , Vesterhus Per , Skjeldal Ola 
Published: June 2005

AbstractAplasia cutis congenita (ACC) may occur in isolation or with other congenital malformations. Peripheral limb anomalies and ACC are major elements of the Adams‐Oliver syndrome, which is usually inherited as an autosomal dominant disorder. We report on a sister and brother with ACC and brain, eye, and transverse limb anomalies. The phalanges of the hands and feet were either short or absent. The girl also had absence of right patella, was severely mentally retarded and blind with retinal nonattachment. The boy had a falciform fold in the left eye. He died at age one week and autopsy showed partial agenesis of corpus callosum. The findings in the sibs may represent a severe variant of the Adams‐Oliver syndrome, or a previously unrecognized syndrome involving vascular disruption. © 1995 Wiley‐Liss, Inc.