bluuebunny/crossref_metadata_2025_split huggingface dataset:
Cystic fibrosis in Ontario
Authors: Sturgess J. M. , Czegledy‐Nagy E. , Corey M. , Thompson M. W. , Opitz John M. , Reynolds James F. 
Published: September 2005

AbstractThe incidence of cystic fibrosis in Ontario, Canada has been determined from clinical data, from the cystic fibrosis database of the Hospital for Sick Children, Toronto, and from population statistics in the Province of Ontario. The survey included 420 confirmed cases of cystic fibrosis born during the period 1966–1980. The mean incidence during this period was one in 2,927. In the last 5‐year period, a decline was noted in incidence that may have reflected in part the effectiveness of early diagnosis and genetic counseling in affected families. During the period of the survey, over 60% of cases were diagnosed within the first year of life, 74% by age 2 years, and 90% by age 5 years. Clinical diagnosis in the first year of life was more common in males (65%) than in females (54%), a consistent finding during the period of the survey. The incidence of meconium ileus was 15.7% of ascertained cases of cystic fibrosis, with similar incidences in males (16.4%) and females (14.4%). Although survival has not been the subject of this survey, mortality in the neonatal period was significantly higher in males than in females with cystic fibrosis.
Chorionic villi sampling: Women's attitudes
Authors: Lippman Abby , Mandel Sonia , Perry Tracy B. , Cartier Lola , Opitz John M. , Reynolds James F. 
Published: September 2005

AbstractTo determine the acceptability of chorionic villi sampling (CVS) to women eligible for prenatal diagnosis, we undertook a survey to identify aspects of this new procedure that made it more or less preferable than amniocentesis. All women ≥ 35 years scheduled for amniocentesis were asked to read some detailed descriptive material about amniocentesis and CVS, to rate the importance of the specific differences between procedures, and to indicate which procedure they would prefer, first considering each difference between them independently and then considering all the factors jointly. In the absence of precise estimates of CVS‐associated risk at the time of the survey, almost equal proportions preferred amniocentesis and CVS (50.2 and 45.1%, respectively). Risk information was the most important factor to women preferring amniocentesis; the timing of the test or nature of the termination procedure was most important to those preferring CVS. In the hypothetical case where CVS was stipulated to have the same attributable risk as amniocentesis, 82% of respondents would prefer it. However, if the spontaneous abortion rate following CVS was stipulated to be 5% more than the amniocentesis risk, preferences reversed and only 22% would still prefer it. Thus, the data suggest that the ultimate acceptability of the new procedure for women over 35 years seeking prenatal diagnosis will depend on the risk associated with it and underscore the importance of ongoing trials aimed at establishing this risk.
A genetic linkage study in 15 families of individuals with von Recklinghausen neurofibromatosis
Authors: Dunn Betty G. , Ferrell Robert E. , Riccardi Vincent M. , Opitz John M. , Reynolds James F. 
Published: September 2005

AbstractA linkage analysis between the gene for von Recklinghausen neurofibromatosis (NF) and 21 genetic markers was carried out using the computer program LIPED. The study group included 15 families composed of 84 individuals, 51 of whom were affected with NF; there were six three‐generation families and nine two‐generation families. Lod scores excluded tight linkage (Z < −2.0) between eight genetic markers and NF and were inconclusive for nine markers. Four markers were not informative. The analysis failed to confirm either the previously suggested linkage between NF and the plasma vitamin D‐binding protein Gc or the possibility of linkage of NF to the secretor locus suggested by reports of two families segregating for NF and myotonic dystrophy.
The Familial Occurrence of Lymphocytic Thyroiditis in Borzoi dogs
Authors: Conaway Dale H. , Padgett George A. , Nachreiner Raymond F. , Prieur David J 
Published: September 2005

AbstractA group of related borzoi dogs were studied over a 6‐year period to ascertain the cause of primary hypothyroidism. Four generations of dogs were analyzed. Two littermates with lymphocytic thyroiditis were mated and the 10 offspring were all diagnosed, on the basis of thyroid biopsy evaluation, as having lymphocytic thyroiditis by age 2.5 years. A wide range of thyroid gland lesions was demonstrated in this litter of dogs.This report documents the occurrence of lymphocytic thyroiditis in three successive generations of an inbred group of borzoi dogs. An autosomal recessive mode of inheritance for the trait in this group of dogs is proposed.
Excess thymidine induces folate sensitve fragile sites
Authors: Sutherland Grant R. , Baker Elizabeth , Fratini Antonio , Opitz John M. , Reynolds James F. 
Published: September 2005

AbstractFolate sensitive fragile sites on human chromosomes have been found to be inducible in cultured lymphocytes by high levels of thymidine but not by high levels of BrdU. The biochemical interpretation of events leading to fragile site expression has been revised since it is now clear that low levels of either thymidylate or deoxycytidine triphosphate will result in this phenomenon. A model for the DNA at a fragile site, composed of alternating repeating polypurine/polypyrimidine sequences is proposed.
Autosomal recessive Robinow‐like syndrome with anterior chamber cleavage anomalies
Authors: Saal Howard M. , Greenstein Robert M. , Weinbaum Paul J. , Poole Andrew E. 
Published: September 2005

AbstractWe describe 2 sisters with short stature, mesomelic brachymelia, macrocephaly, hypoplastic genitalia, and anterior chamber cieavage anomalies. Many of their manifestations have been described in individuals with Robinow syndrome; however, the anterior chamber cleavage anomaiies seen in both girls, hydrocephalus seen in the younger sister, and apparent autosomal recessive inheritance do not characterize the Robinow syndrome. The syndrome present in these sisters most likely represents a previously undescribed autosomal recessive syndrome.
A child with sclerocornea, short limbs, short stature, and distinct facial appearance
Authors: Thompson Elizabeth M. , Winter Robin M. , Opitz John M. , Reynolds James F. 
Published: September 2005

AbstractWe describe a boy with sclerocornea, short limbs, short stature and a distinct facial appearance. The resemblance to other reports of affected sibs suggests that this is a newly recognised, autosomal recessive syndrome.
Association of double nor variant with Turner syndrome
Authors: Jones Carolyn , Ahmed I. , Cummings Michael R. , Rosenthal Dr Ira M. 
Published: September 2005

AbstractA study was made of the possible association of double nucleolus organizers (dNORs) with Turner syndrome. Occurrence of dNORs was determined using the silver staining method of Goodpasture and Bloom [1975]. In 45 control subjects, the incidence of dNORs was 8.8%. Studies were done on 33 Turner syndrome patients. In 28 cases with 45,X or 45,X/46,XX karyotypes, the incidence of the dNOR variant was 50%. Five cases of Turner syndrome with X rings or X isochromosomes were negative for dNORs. Analysis of the data indicates an association between the dNOR variant and the occurrence of Turner syndrome. It is proposed that the presence of the dNOR variant can increase the rate of nondisjunction of the X chromosome in meiosis or in mitotic divisions during early gestation.
Caudal deficiency sequence in 7q terminal deletion
Authors: Schrander‐Stumpel Constance , Schrander Jaap , Fryns Jean‐Pierre , Hamers Guus , Opitz John M. , Reynolds James F. 
Published: September 2005

AbstractWe describe a male infant with signs of caudal deficiency sequence. In addition, he showed growth retardation, microcephaly, prominent forehead, bulbous nose tip, large dysplastic ears, hypospadia, partial sacral agenesis, and neurologic bladder dysfunction. Chromosome examination showed a terminal 7q deletion 46, XY, del(7)(pter→q32:). Four previous reported cases of 7q terminal deletion and signs of caudal deficiency are reviewed. Chromosome aberrations may, at least in some cases, be responsible for developmental defects.
The Hand‐Foot‐Genital (Hand‐Foot‐Uterus) syndrome: Family report and update
Authors: Halal Fahed , Opitz John M. , Reynolds James F. 
Published: September 2005

AbstractFour individuals from three generations of a family had the Hand‐Foot‐Genital (Hand‐Foot‐Uterus) syndrome. Affected females had urologic abnormalities confirming that the latter are part of the syndrome.
Trisomy 18 associated with ectopia cordis and occipital meningocele
Authors: Bick David , Markowitz Richard I. , Horwich Arthur , Opitz John M. , Reynolds James F. 
Published: September 2005

AbstractA premature infant presented with ectopia cordis, occipital meningocele, and manifestations of trisomy 18; cytogenetic analysis confirmed a 47,XX,+ 18 chromosome constitution. While most cases of ectopia cordis appear as isolated, sporadic defects, careful evaluation is warranted to detect evidence of an associated chromosome abnormality.
A mouse malformation mutant supplement to the London Dysmorphology Database
Authors: Winter R. M. , Opitz John M. , Reynolds James F. 
Published: September 2005

AbstractA mouse malformation mutant supplement to the London Dysmorphology Database is described. Using a microcomputer, the mouse malformation database can be searched by asking for all mutants with a specific combination of physical abnormalities. The database is available free to interested researchers on receipt of two 5¼ floppy disks.
Absence of detectable chromosomal and molecular abnormalities in monozygotic twins discordant for the Wiedemann‐Beckwith syndrome
Authors: Litz Craig E. , Taylor Kimberly A. , Qiu J. S. , Pescovitz Ora H. , De Martinville Bérengère , Opitz John M. , Reynolds James F. 
Published: September 2005

AbstractMonozygotic twins discordant for the Wiedemann‐Beckwith syndrome (WBS) were studied by cytogenetic and molecular methods to determine if a genetic lesion could be detected in the affected child. Probes known to be localized on the short arm of chromosome 11 and a low copy‐repetitive probe were used. No genetic lesions could be ascertained in normal or affected tissue obtained from the WBS twin.
The mild form of Menkes disease: Progress report on the original case
Authors: Danks D. M. 
Published: September 2005

AbstractIn 1981 we reported a patient with a mild form of Menkes disease [Procopis et al., 1981]. He presented at the age of 21 months with delayed motor and speech development due principally to severe cerebellar ataxia. Hair abnormality and facial appearance had suggested Menkes disease, but a serum copper level at the lower limit of normal had shaken confidence in this diagnosis. Copper levels in liver, intestinal mucosa and cultured fibroblasts showed the abnormalities expected in Menkes disease. The family history did not allow the mode of inheritance to be determined.We report on progress of this patient, now 10 years old. He has been treated with injections of copper histidinate for most of the intervening time. The results of studies on a subsequent pregnancy support X‐linked inheritance.
Duplication of a small segment of 5p due to maternal recombination within a paracentric shift
Authors: Webb Graham C. , Voullaire Lucille E. , Rogers John G. 
Published: September 2005

AbstractDuplication of chromosome sub‐bands 5p14.3 and 5p15.1 in a child resulted in mild mental retardation, apparently without other abnormalities. The duplicated region arises from recombination within a directly inserted segment following a shift within the short arm of the maternal chromosome 5 homologs.
Myelomeningocele, Arnold‐Chiari anomaly and hydrocephalus in focal dermal hypoplasia
Authors: Almeida L. , Anyane‐Yeboa K. , Grossman M. , Rosen T. 
Published: September 2005

AbstractFocal dermal hypoplasia (FDH) is an X‐linked dominantly inherited syndrome of cutaneous, skeletal, dental, ocular, and soft tissue defects. We report on a female infant with FDH with the first observation of myelomeningocele with hydrocephalus and Arnold‐Chiari malformation.
Holoprosencephaly and trisomy 21 in a child born to a nondiabetic mother
Authors: Urioste M. , Valcarcel E. , Gomez M. A. , Pinel I. , de León R. Garcia , de Bustamante A. Diaz , Tebar R. , Martinez‐Frias M. L. 
Published: September 2005

AbstractThis is the second reported case of a child with holoprosencephaly and trisomy 21. The first case was born to a diabetic woman; in our case, there was no evidence of diabetes in the mother. Most of the distinctive facial features of Down syndrome were obscured by the presence of cyclopia and a suprarbital proboscis in this infant. The relevance of chromosome analysis in cases with holoprosencephaly is discussed.
The ermine phenotype: Pigmentary‐hearing loss heterogeneity
Authors: O'Doherty N. J. , Gorlin R. J. 
Published: September 2005

AbstractThe term ermine phenotype has been chosen to describe patients with white hair with black tufts. The patients also have sensorineural hearing loss. This rare phenotype may come about either by failure of migration of melanocytes or by an autoimmune mechanism. Examples of each are cited. The authors describe a possible third type. Comparison with other pigment loss‐sensorineural hearing loss syndromes is made.
Autosomal dominant benign neonatal seizures
Authors: Cunniff Christopher , Wiedlin Nancy , Jones Kenneth Lyons 
Published: September 2005

AbstractEight individuals in two generations of a family experienced seizures neonatally or in early infancy. Evaluation in two of these infants documented an EEG pattern suggestive of seizure actiity without discernible pthogenesis of their seizures. Subsequently, affected individuals had a normal neurodevelopmental outcome, although one person had later epilepsy. The benign course of this disorder and its association with adult epilepsy agree with previously reported cases from the literature.
Interference with gastrulation during the third week of pregnancy as a cause of some facial abnormalities and CNS defects
Authors: Webster William S. , Lipson Anthony H. , Sulik Kathleen K. , Opitz John M. , Reynolds James F. 
Published: September 2005

AbstractDuring the third week of pregnancy the human embryo undergoes a major developmental process, gastrulation, during which the two‐layered embryo is converted into a three‐layered embryo. At the same time, the upper epiblast layer is induced to form the neural plate. Evidence is presented which suggests that interference with this process by genetic, physical, or chemical agents can cause a range of CNS abnormalities and facial abnormalities, including those described as characteristic of the FAS.
Evaluating the uncertainty of risk prediction in genetic counseling: A Bayesian approach
Authors: Rogatko André , Opitz John M. , Reynolds James F. 
Published: September 2005

AbstractA general method to obtain the exact point estimate and the measure of uncertainty of recurrence risks for genetic counseling is present. This method, which follows Bayesian estimation theory, can be applied without restrictions of sample size, class of risk function, or parameter dimension. As an illustration, the recurrence risks for isolated cases in two autosomal dominant disorders with incomplete penetrance (mandibulofacial and fontonasal dyostoses) are estimated.
Aspartylglucosaminuria in a Puerto Rican family: Additional features of a panethnic disorder
Authors: Chitayat David , Nakagawa Sachiko , Marion Robert W. , Sachs Gay S , Hahm Sue Y. E. , Goldman Harold S. , Opitz John M. , Reynolds James F. 
Published: September 2005

AbstractWe report on 3 Puerto Rican brothers with the clinical and laboratory findings of aspartylglucosaminuria (AGU). Their parents were first cousins. The affected sibs have the “cardinal” manifestations of AGU, including developmental disabilities, progressive “coarsening” of the face, and early onset of hepatosplenomegaly. Biochemical studies showed elevated levels of urinary aspartylglucosamine and very low activity of aspartylglucosaminidase (AGA) in cultured fibroblasts. With long term follow‐up, previously undescribed manifestations were noted, including radiographic evidence of spondylolysis and spondylolisthesis in early childhood and development of macro‐orchidism during puberty. This family shows that AGU is not limited to individuals of Finnish background, but that the gene is panethnic in distribution and that additional changes, not previously noted, may present with advancing age.
Short stature, abnormal ears, monodactylous tetraectrodactyly, cleft palate in a Brazilian boy
Authors: Richieri‐Costa A. , de Miranda E. , Fraser F. Clarke , Reynolds James F. 
Published: September 2005

AbstractWe report on a Brazilian boy presenting short stature, small ears with mild overfolding of the helices, monodactylous tetraectrodactyly and cleft palate. We suspect that he has a previously undescribed syndrome of presently unknown cause.
Invited essay on the psychological aspects of genetic counseling. V. preselection: A family coping strategy in Huntington disease
Authors: Kessler Seymour , Opitz John M. , Reynolds James F. 
Published: September 2005

AbstractPreselection refers to the “sick” ‐role assignment given to an asymptomatic individual in a family in which a genetic or other disorder with multiple uncertainties occurs. The selection process is made, often when the preselected person is still a child, without knowledge of who eventually will be affected. The process requires the collusion of the family members for its initiation and maintenance and serves as a major coping strategy to reduce or bind the stresses and anxieties engendered by uncertainty. Preselection is seen often in families in which Huntington disease occurs and is promoted by the delayed age of onset of the disorder and the uncertain gene status of the person at risk.
The Perrault syndrome: Clinical report and review
Authors: Nishi Yoshikazu , Hamamoto Kazuko , Kajiyama Michi , Kawamura Ichiro , Opitz John M. , Reynolds James F. 
Published: September 2005

AbstractWe report on two Japanese sisters with Perrault syndrome, i.e., autosomal recessive ovarian dysgenesis associated with sensorineural deafness. They also had ataxic gait, pes equinovarus, nystagmus, limited extraocular movements, and short stature. One older affected sister had partial growth hormone deficiency. Our review included 21 patients from 8 families, including our patients; 16 are women with ovarian dysgenesis and deafness, 3 deaf males without gonadal defect, one a woman with ovarian dysgenesis without deafness, and one a girl with deafness in whom ovarian function was not evaluated. Perrault syndrome may not be uncommon; some cases may have gone unrecognized, especially when a single child in a family is affected.
Piebaldism‐Waardenburg syndrome: Histopathologic evidence for a neural crest syndrome
Authors: Kaplan Paige , De Chaderévian Jean‐Pierre , Opitz John M. , Reynolds James F. 
Published: September 2005

AbstractPiebaldism, an autosomal dominant trait, is characterized by patchy hypopigmentation of the face, anterior chest, abdomen, and limbs, heterochromia/bicolored irises, congenital megacolon, and deafness. A 4‐month‐old Inuit (Eskimo) boy with these manifestations also had left pulmonic artery stenosis, ocular ptosis, and unilateral duplication of the renal collecting system. Evidence is presented for both qualitative and quantitative derangement of neural crest derivatives in this syndrome. Histologically, hypoganglionosis, hyperganglionosis, and ectopic ganglia in lamina propria (neuronal colonic dysplasia [NCD]) were documented in the rectum. The appendix, proximal to the clinical transition zone, showed similar dysplasia. In the hypopigmented skin, multiple microscopic sections were devoid of melanocytes, with no melanin in adjacent basal cells. The hyperpigmented skin contained melanin throughout the basal layer, but the melanocytes were unevenly distributed. Most tissues affected in this boy are of neural crest origin; pathogenesis could be due to faulty migration along the established pathways involving either the borders (basal laminae) or the components of the extracellular matrix (fibronectin, cytotactin, laminin, glycosaminoglycans, and collagen). The similarities between piebaldism and the Waardenburg syndromes are discussed.
Transmission of ring 14 chromosome from mother to two sons
Authors: Matalon Reuben , Supple Peggy , Wyandt Herman , Rosenthal Ira M. 
Published: September 2005

AbstractWe report on a family with transmission of a ring chromosome 14 from an affected mother to her 2 sons. The mother was mosaic, 46,XX,r(14)/45,XX,t(14q21q). Both of her sons, affected by seizures and mental retardation, have the karyotype 46,XY,r(14). In considering the association of translocation 14:21 in the mother with ring 14, we postulate that either the ring chromosome was formed first and then opened with translocation of the partially deleted chromosome 14 to chromosome 21, or the 14:21 translocation was present first, then the chromosomes 14 and 21 broke apart, and the partially deleted 14 formed the ring. The published literature of cases of ring 14 is reviewed.
Beukes familial hip dysplasia: An autosomal dominant entity
Authors: Cilliers H. J. , Beighton P. 
Published: September 2005

AbstractAn unique inherited skeletal disorder had been identified in 47 patients in 6 generations of an Afrikaner family in Southern Africa. Pain develops in the hip joints in early childhood in the majority of affected persons and the course is progressive with severe crippling by early adulthood. General health is good, height is not significantly reduced, and there is no extra‐skeletal involvement. The major changes are in the femoral capital epiphyses, which are severely flattened and irregular; secondary osteoarthrosis develops at an early age.Pedigree data indicate autosomal dominant inheritance with a reasonably consistent phenotypic expression. In view of the fact that only members of the Beukes family have been identified as suffering from the condition, the designation “Beukes familial hip dysplasia” (BFHD) is proposed.
Interstitial deletion involving most of Yq
Authors: Skare James , Drwinga Helen , Wyandt Herman , VanderSpek Johanna , Troxler Robert , Milunsky Aubrey 
Published: September 2005

AbstractMales with a Yq deletion are well described, but few have been studied with both cytogenetic and molecular techniques to define the deletion and relate it to the phenotype. This study reports an analysis of cells obtained from a college student with azoospermia, short stature, and a small penis. Cytogenetic analysis indicated that the entire Yq was deleted, but DNA hybridization showed that a portion of Yq12 remained. We conclude that the deletion is interstitial.
Prenatal diagnosis of skeletal dysplasia identified postnatally as hypochondroplasia
Authors: Jones Susan M. , Robinson Luther K. , Sperrazza Ralph 
Published: September 2005

AbstractA short‐limb skeletal dysplasia was diagnosed prenatally at 35 weeks of gestation. After birth the infant was found to have hypochondroplasia. The parents are of average stature, and the child's disorder presumably occurred as a fresh mutation. This appears to be the first reported case of hypochondroplasia diagnosed prenatally as a “non‐specific skeletal dysplasia” in the absence of a family history. Evaluation after birth showed that the infant, whose parents are of normal stature, has hypochondroplasia.