bluuebunny/crossref_metadata_2025_split huggingface dataset:
Greig cephalopolysyndactyly syndrome: A possible mouse homologue (Xt‐extra toes)
Authors: Winter Robin M. , Huson Susan M. , Prieur David J. , Reynolds James F. 
Published: June 2005

AbstractGreig cephalopolysyndactyly syndrome is an autosomal dominant form of complex polydactyly in man. Attention is called to the evidence that, on both morphological and comparative gene mapping grounds, this defect is homologous to Xt‐extra toes in the mouse. The pattern of polydactyly in both species is very similar. In addition, both conditions probably map close to the T‐cell receptor gamma polypeptide at 13 A2–3 in mouse and 7p15 in humans.
Chromosomal localisation of a developmental gene in man: Direct DNA analysis demonstrates that Greig cephalopolysyndactyly maps to 7p13
Authors: Brueton Louise , Huson Susan M. , Winter Robin M. , Williamson Robert , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractGreig cephalopolysyndactyly syndrome (GCPS) is a rare autosomal dominant form of complex polydactyly. GCPS has been tentatively assigned to chromosome 7 on the basis of association of the condition with balanced translocations involving the short arm of chromosome 7 (7p13) in two families. Seven GCPS pedigrees with no chromosome abnormality were studied, and linkage was demonstrated between. GCPS and the DNA sequence coding for the receptor for epidermal growth factor (localised to 7p12–13) (Z. = 3.17; 0 = θ).
Thanatophoric dysplasia: An autosomal dominant condition?
Authors: Martínez‐Frías M. L. , Ramos‐Arroyo M. A. , Salvador J. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe present 13 cases of thanatophoric dysplasia collected in the Spanish Collaborative Study of Congenital Malformations from a total population of 517,970 births. The incidence (live and stillbirth) was 2.7 per 100,000 births. All cases were sporadic, and there was no evidence of parental consanguinity. Parental age was significantly higher as compared with control parents. These findings suggest the occurrence of autosomal dominant mutation, with an overall mutation rate of 1.34 × 10−5 in our population, which is close to that observed in achondroplasia.
Deletion 9p, duplication 18q in two sisters resulting from a maternal (9;18) (p22;q21.3) translocation
Authors: Tayel Shawky M. , Kurczynski Thaddeus W. , Casperson Susan , McCorquodale Maureen M. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe have studied two sisters with partial deletion 9p and partial duplication 18q resulting from adjacent 1 segregation of a maternal translocation (9;18) (p22;q21.3). The clinical manifestations identified in our patients were compared with those reported in the literature for 9p− and 18q + patients involving approximately the same amount of genetic material. There was relatively greater similarity with the 9p− syndrome than with dup (18q) syndrome, but typical characteristics of both conditions were lacking.
Ocular hypotelorism, submucosal cleft palate, and hypospadias: A new autosomal dominant syndrome
Authors: Schilbach U. , Rott H.‐D. , Neri Giovanni , Reynolds James F. 
Published: June 2005

AbstractA syndrome characterized by ocular hypotelorism, submucosal cleft palate, and hypospadias in males was found in ten relatives over five generations of a family. Other anomalies are blepharophimosis, upslant of palpebral fissures, and a tendency to cutaneous syndactyly of 3rd and 4th fingers as well as 2nd and 3rd toes. Autosomal dominant inheritance is likely.
Carrier detection in hemophilia A: ABO blood group, multiple measurements, and application of logistic discrimination
Authors: Percy M. E. , Rusk A. C. M. , Garvey M. B. , Freedman J. J. , Teitel J. M. , Blake P. , Carter C. , Andrew M. , Johnson M. , Inwood M. , Andrews D. F. , Brasher P. M. A. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractIn healthy 20‐ to 50‐year‐old women, the ABO blood group has a significant effect on levels of von Willebrand factor (VWF:Ag, formerly VIIIR:Ag) and on factor VIII activity (F.VIII:C). However, there is no significant effect of ABO group or subject age on the ratio loge (F.VIII:C/VWF:Ag). Multiple measurements of the “ratio” on possible carriers of hemophilia A may be combined with pedigree information using logistic discrimination to yield final risk assessment. To reduce misclassification of carriers as normal women, a lower limit, specified by the logistic model, is set on the logistic carrier probabilities.In this study, the proportion of blood group A for a population of obligate carriers was significantly higher than that expected for the general population (60% vs. 42%); for a population of control women it was lower than expected (22.5 vs. 42%). The effect for the carriers came primarily from daughters of affected fathers, as 81.3% were of blood group A. These observations indicate that a “universal” discriminant should be applied with caution.
Hepatocellular carcinoma in a child with familial Russell‐Silver syndrome
Authors: Chitayat David , Friedman Jan M. , Anderson Linda , Dimmick James E. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe describe a 4‐year‐old boy with Russell‐Silver syndrome (RSS) found to have hepatocellular carcinoma. The brother of this child also had manifestations of RSS. This is the third malignancy and the first hepatocellular carcinoma described in a patient with RSS. The coexistence of hepatocellular carcinoma and RSS may be completely fortuitous; however, the known association of liver cancer with growth abnormality and hemihypertrophy, findings also present in RSS, suggest that these disorders may be related.
Late onset scleroatonic familial myopathy (Ullrich disease): A study of two sibs
Authors: Ricci Enzo , Bertini Enrico , Boldrini Renata , Sabatelli Mario , Servidei Serenella , Mazziotta Mercedes R. M. , Bosman Cesare , Tonali Pietro , Neri Giovanni , Reynolds James F. 
Published: June 2005

AbstractWe report on sibs with scleroatonic familial myopathy (Ullrich disease). Muscular weakness was of relatively late onset in relation to other cases reported in the literature. Short stature and moderate growth hormone deficiency were noted during follow‐up. Differential diagnosis with other neuromuscular disorders, particularly rigid spine syndrome, is discussed.
Juvenile polyposis: A case with early presentation and death attributable to adenocarcinoma of the pancreas
Authors: Walpole Ian R. , Cullity Garry , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractA male child who first presented in the second year of life demonstrated all the recognized clinicopathological manifestations of juvenile polyposis with associated birth defects. Subsequent death at age 19 years from adenocarcinoma of the pancreas further broadens the recognized spectrum of possible sequelae in this disorder and is in keeping with current hypotheses of inherent cancer potential throughout the polyposis syndromes.
A new Spanish family with Hb Louisville
Authors: Villegas A. , Malcorra J. J. , Balda I. , Calero F. , Porres A. , Alvarez‐Sala J. L. , Espinós D. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractThe clinical, hematological, and biochemical characteristics of a new family with heterozygous hemoglobin (Hb) Louisville are described. The family showed a decrease in both oxygen affinity and cooperativity with the normal Bohr effect. This family has the greatest number of affected members reported to date. Among the descendants, two first cousins (III‐10 and III‐11), both of whom are affected by the heterozygous trait of Hb Louisville, had had three abortions of undetermined causes.
Autosomal dominant hypoparathyroidism with intracranial calcification outside the basal ganglia
Authors: McLeod D. Ross , Hanley David A. , McArthur Robert G. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe describe a family with autosomal dominant hypoparathyroidism. The 3 affected individuals had no detectable serum parathyroid hormone on radioimmunoassay. The propositus presented with seizures and on CT scan had bilateral basal ganglion calcification and calcification in the frontal lobes. His similarly affected mother had even more intracerebral calcification. The latter manifestation has not been described previously in autosomal dominant hypoparathyroidism.
A man with isochromosome Xq Klinefelter syndrome with lack of height increase and normal androgenization
Authors: Richer Claude‐Lise , Bleau Gilles , Chapdelaine Alcide , Murer‐Orlando Manuela , Lemieux Nicole , Cadotte Marcel , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on a patient with Klinefelter syndrome (KS) and the homogeneous aneuploidy 47,Xi(Xq)Y, or male trisomy Xq. He had many characteristics of classical KS: small testes, azoospermia, elevated FSH and LH, average intelligence, and normal androgenization, but his stature was not increased, compared with his father's and brothers'. The i(Xq), found in all cells analyzed, was late‐replicating, monocentric, and also asymmetric for the RBG‐banding of the two arms, indicating a different chronology of DNA synthesis in each arm. When indicated, in the seven previously reported cases, the level of plasma testosterone was always subnormal; it was normal (650 ng/100 ml) in our patient, who had normal masculinization. Thus the level of testosterone among patients with KS is not necessarily lower with an extra Xq. Furthermore, the sharp contrast in the height of KS patients with or without an i(Xq) is striking. It appears definitely possible to associate the isochromosome Xq Klinefelter syndrome with a lack of height increase.
Etiologic heterogeneity in dyskeratosis congenita
Authors: Pai G. Shashidhar , Morgan Samuel , Whetsell Carl , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractMost patients with dyskeratosis congenita [DC or Zinsser‐Cole‐Engman syndrome] are males hemizygous for an X‐linked recessive mutation. However, one or more autosomal form(s) of DC may exist. We have studied a 6‐year‐old black girl with the characteristic triad of nail dystrophy, cutaneous and mucosal pigmentary changes, and bone marrow failure. Severe microcephaly, mental retardation, cerebellar hypoplasia, and purple discoloration of the tongue were other manifestations not usually seen in DC. Comparison of our patient's phenotype with that of 5 other sporadic and 10 familial cases of DC in females showed that the autosomal and X‐linked phenotypes are not distinguishable in the absence of a suggestive pedigree pattern. Additional cases of DC need to be studied to better elucidate the apparent causal heterogeneity in this syndrome.
Impaired spermatogenesis is not an obligate expression of receptor‐defective androgen resistance
Authors: Pinsky Leonard , Kaufman Morris , Killinger Donald W. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe are studying a man who presented at age 21 years with severe extragenital subvirilization despite high‐normal to above‐normal levels of plasma testosterone for at least 5 years. At puberty, his penis, scrotum, and testes matured normally, and he did not develop gynecomastia; however, his voice, muscularity, and facial, sexual, and body hair remained immature. A 2.5‐ml ejaculate yielded normal results for sperm density, morphology, and motility. Because persistent undervirilization was emotionally disabling, he has received pharmacologic doses of testosterone enanthate intramuscularly for 3.5 years. The treatment has improved his virilization and masculine self‐image substantially, and his semen analysis has remained well within the normal range. The androgen receptor in his genital skin fibroblasts has a distinctively mutant phenotype: it has a low affinity (increased apparent equilibrium dissociation constant, Kd) for 5α‐dihydrotestosterone and two synthetic androgens, mibolerone (MB) and methyltrienolone (MT), and its binding capacity (Bmax) is normal for the other two ligands, but questionably low for MT. In addition, it up‐regulates its activity normally in response to prolonged incubation with androgen, and its androgen‐receptor complexes are not thermolabile. Our study of this man permits two conclusions: impaired spermatogenesis is not the irreducible expression of receptor‐defective androgen resistance in man; and androgen pharmacotherapy may be remedial for those in whom extragenital subvirilization is emotionally costly and subnormal spermatogenesis is not an inevitable side effect of such therapy.
Autosomal dominant inheritance of small kidneys
Authors: Kaplan Bernard S. , Milner Lawrence S. , Jequier Sigrid , Kaplan Paige , De Chadarevian Jean‐Pierre , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report herein bilateral small kidneys found in a mother and her two sons. This was associated with slowly progressive chronic renal failure. None of the patients had any of the associated clinical manifestations of recognized syndromes in which there is autosomal dominant inheritance of bilateral small kidneys (e.g., branchio‐oto‐renal syndrome). Nor did they have the clinical symptoms commonly associated with medullary cystic kidney‐juvenile nephronophthisis. However, there were some manifestations that have been reported in familial hypoplastic kidneys with glomerular cysts. Without wanting to claim that this is a “new” syndrome, we are, however, unaware of any reports describing a similar kindred. The importance of this report stems mainly from the fact that a woman with mild to moderate stable chronic renal failure associated with, or caused by, bilateral small dysplastic kidneys gave birth to two sons with the same problem.
Mutation rate estimates are not compatible with autosomal dominant inheritance of the dysplastic nevus “syndrome”
Authors: Traupe Heiko , Macher Egon , Hamm Henning , Happle Rudolf , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractDysplastic nevi represent precursor lesions harboring an increased risk of evolving into melanoma. Their association with familial melanoma is usually considered a monogenic syndrome with autosomal dominant transmission. To test this concept we estimated the mutation rates. When derived directly from the sporadic occurrence of the trait, the mutation rate is exceedingly high (0.9%–2.5%), whereas, as estimated with the aid of Haldane's formula it would be 0.007% to 0.02%. Accordingly, newly arising mutation would out‐number eliminated mutations by 100:1. Even if only 80% of all old mutations are passed onto the next generation, this ratio of 100:1 would rapidly change. After only a few generations, 10% of the world population should be affected with the dysplastic nevus “syndrome”. The apparent lack of a genetic equilibrium between newly arising and eliminated mutations is not compatible with autosomal dominant inheritance of the dysplastic nevus “syndrome”.
Holoprosencephaly, ear abnormalities, congenital heart defect, and microphallus in a patient with 11q–mosaicism
Authors: Helmuth Robin A. , Weaver David D. , Wills Edward R. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on a newborn male with deletion of part of 11q, the 27th reported case. Our patient had some of the clinical characteristics of the 11q–syndrome, but his male gender, liveborn status, q21 breakpoint, and mosaicism were unusual. In addition, he demonstrated holoprosencephaly, with cyclopia and arhinencephaly, manifestations previously unreported in the 11q–syndrome. We discuss the above points and review the literature on 11q–.
Atrial septal defect, ventricular septal defect, and coarctation of the aorta in sibs: An autosomal recessive disorder?
Authors: Nordenberg Dale F. , Hanna Brian , Fouron Jean‐Claude , Der Kaloustian Vazken M. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on two sisters with secundum atrial septal defect, perimembranous ventricular septal defect, and coarctation of the aorta. Identical anatomical malformations were verified by echocardiography and at operation. No other affected relatives were identified. We suggest that this is a specific, possibly recessively inherited type of complex cardiac malformation.
Diagnostic criteria for Walker‐Warburg syndrome
Authors: Dobyns William B. , Pagon Roberta A. , Armstrong Dawna , Curry Cynthia J. R. , Greenberg Frank , Grix Arthur , Holmes Lewis B. , Laxova Renata , Michels Virginia V. , Robinow Meinhard , Zimmerman Roberta L. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWalker‐Warburg syndrome (WWS) is an autosomal recessive disorder manifest by characteristic brain and eye malformations. We reviewed data on 21 of our patients and an additional 42 patients from the literature. From this review, we expand the phenotype to include congenital muscular dystrophy (CMD) and cleft lip and/or palate (CLP), and revise the diagnostic criteria.Four abnormalities were present in all patients checked for these anomalies: type II lissencephaly (21/21), cerebellar malformation (20/20), retinal malformation (18/18), and CMD (14/14). We propose that these comprise necessary and sufficient diagnostic criteria for WWS. Two other frequently observed abnormalities, ventricular dilatation with or without hydrocephalus (20/21) and anterior chamber malformation (16/21), are helpful but not necessary diagnostic criteria because they were not constant.All other abnormalities occurred less frequently. Congenital macrocephaly with hydrocephalus (11/19) was more common than congenital microcephaly (3/19). Dandy‐Walker malformation (10/19) was sometimes associated with posterior cephalocele (5/21). Additional abnormalities included slit‐like ventricles (1/21), microphthalmia (8/21), ocular colobomas (3/15), congenital cataracts (7/20), genital anomalies in males (5/8), and CLP (4/21). Median survival in our series was 9 months.A related autosomal recessive disorder, Fukuyama congenital muscular dystrophy, consists of similar but less severe brain changes and CMD. It differs from WWS because of consistently less frequent and severe cerebellar and retinal abnormalities. We think that WWS is identical to “cerebro‐oculo‐muscular syndrome” and “muscle, eye, and brain disease”.
Predictive testing for Huntington disease: I. Description of a pilot project in British Columbia
Authors: Fox S. , Bloch M. , Fahy M. , Hayden M. R. 
Published: June 2005

AbstractThe discovery of DNA markers linked to the gene causing Huntington disease (HD) has allowed the development of predictive testing programs for persons at‐risk. A pilot program was established in British Columbia in November 1986. Ninetyfive persons are currently enrolled. The major objective of this project is to introduce and evaluate a protocol for the delivery of test results to persons at‐risk for HD. The criteria for entry and details of the psychosocial assessment before and after receiving a modified risk are presented. The guidelines that are developed from this project will have major applications for predictive testing programs for other late onset autosomal dominant disorders.
Prenatal exclusion testing for Huntington disease using the polymerase chain reaction
Authors: McIntosh I. , Curtis Ann , Millan F. A. , Brock D. J. H. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractPrenatal exclusion of Huntington disease (HD) may be carried out by analysis of cosegregating DNA markers on a first‐trimester chorionic villus sample. The conventional Southern blot method is time‐consuming and requires microgram quantities of DNA and milligram quantities of villus tissue. The use of the polymerase chain reaction (PCR) to amplify genomic DNA by a factor of 107 or more makes it possible to do analyses on very small samples in a few hours and without recourse to Southern blotting or hybridization with radioactive probes. We report on a fetus at risk of HD; prenatal testing was carried out by using the PCR to amplify a polymorphic DNA sequence adjacent to the HD locus. The risk of the fetus inheriting the HD gene could not be excluded and the pregnancy was terminated. This represents an example of gene tracking by using amplification of a restriction fragment length polymorphism at some distance from the relevant mutation.
Human cardiac myosin heavy chain gene mapped within chromosome region 14q11.2→q13
Authors: Matsuoka Rumiko , Yoshida Michihiro C. , Kanda Naotoshi , Kimura Misa , Ozasa Hisashi , Takao Atsuyoshi , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractOur previous report demonstrated that two human cardiac α‐ and β‐myosin heavy‐chains (MHCs) which correspond to MYH6 and MYH7 respectively, according to Human Gene Mapping nomenclature, were mapped to human chromosome 14 and that human cardiac and skeletal MHC genes do not cosegregate. For further analysis, the regional mapping method was used. DNA from 4 human deletion and 3 human duplication cell lines were prepared for southern blotting, hybridized with human cardiac α‐ and β‐MHC DNA probes, and the hybridization intensity relative to 46,XX or 46,XY DNA was estimated. The results showed that two human cardiac MHC genes segregated with the 14cen→q13 region of the long arm of human chromosome 14. In situ hybridization of 3H‐labeled human cardiac α‐MHC probe to normal human metaphase chromosome independently confirmed this result.
Angelman and Prader‐Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion
Authors: Knoll J. H. M. , Nicholls R. D. , Magenis R. E. , Graham J. M. , Lalande M. , Latt S. A. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractMany Prader‐Willi syndrome (PWS) and Angelman syndrome (AS) patients have a cytogenetic deletion of 15q11q13. While AS and PWS share a similar cytogenetic anomaly, they have very different clinical phenotypes. DNAs from 4 AS patients were examined using 5 chromosome 15q11q13‐ specific cloned DNA segments. With the present level of resolution, the molecular deletions between AS and those previously reported for PWS did not appear to differ. However, in contrast to the paternal inheritance of the deleted chromosome 15 observed in the majority of PWS patients, maternal inheritance of the deleted chromosome 15 was demonstrated in the AS patients by restriction fragment length polymorphisms (RFLPs).
Acrocallosal syndrome in a girl born to consanguineous parents
Authors: Salgado Leonardo J. , Ali Carlos A. , Castilla Eduardo E. 
Published: June 2005

AbstractThe present report describes on a 1‐year‐old girl with macrocephaly, bulging forehead, ocular hypertelorism, antimongoloid palpebral slant, convergent strabismus, atrophy of optic papillae, short philtrum, protruding lips, high‐arched palate, bifid uvula, broad trunk, apparently widely spaced nipples, diastasis recti, small umbilical hernia, tapering fingers, fifth‐finger clinodactyly, postaxial polydactyly of the left hand, and bilateral hallux duplication. Partial agenesis of the corpus callosum and central diffuse cortical cerebral atrophy was documented on computed tomography. Chromosomes were normal. Parents were related as half first cousins. Their previous pregnancy had ended in a miscarriage. We suggest that this patient has an acrocallosal syndrome inherited as an autosomal recessive trait. This supports other recent reports that have considered this entity to differ from Greig cephalopolysyndactyly.
Acrocallosal syndrome: New findings
Authors: Moeschler John B. , Pober Barbara R. , Holmes Lewis B. , Graham John M. 
Published: June 2005

AbstractWe describe a 21‐month‐old girl with typical manifestations of the acrocallosal syndrome of craniofacial anomalies, agenesis of the corpus callosum, hallucal duplication, severe hypotonia, and psychomotor retardation. Our patient also had the Dandy‐Walker malformation, imperforate anus with recto vaginal fistula, hypothalamic dysfunction with hypothyroidism and diabetes insipidus, thick, dysplastic pulmonic valve leaflets, central and obstructive apnea, and pulmonary hypertension. These findings add to the delineation of this syndrome.