bluuebunny/crossref_metadata_2025_split huggingface dataset:
A private view of heterozygosity: Eight‐year follow‐up study on carriers of the Tay‐Sachs gene detected by high school screening in montreal
Authors: Zeesman Susan , Clow Carol L. , Cartier Lola , Scriver Charles R. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe surveyed 264 persons (132 carriers, 132 matched noncarriers) screened for Tay‐Sachs heterozygosity during 1974–76 in a program directed at senior high school students in Montreal. Among 198 who apparently received the questionnaire in 1982, the response rate was 42% (38 carriers, 45 noncarriers; age range 21–26 yr). Respondents and nonrespondents had no apparent demographic differences. Of eight unable to remember their genotype only one was a carrier (these persons were excluded from the study). The subjects were: single (75%), married (20%), engaged (3%), divorced (1%); 32% of carriers were engaged or married vs 16% of noncarriers. (There were no carrier couples in our sample, but one such couple, who married after being screened in the high school program, requested amniocentesis in 1981.) Only three of the 12 spouses or fiancé(s) of carriers have not been tested (vs 3 of 6 noncarrier partners). Only 19% of carriers now attach any “worry” to heterozygosity (vs 46% at the earlier time of test disclosure, P = 0.001); carriers with spouses or fiancé(e)s are less “worried” than unattached carriers. Only 3% of carriers claim they would change marriage plansif their fiancé(e) was also a carrier. Carriers and noncarriers uniformly approve (96%) genetic screening for themselves and for other mutant genotypes; 92% of carriers and 95% of noncarriers approve being screened in high school. These findings indicate that Canadians screened in high school: 1) have largely positive attitudes toward genetic screening long after the experience, and 2) are making appropriate use of the test result.
Neural tube defects in dup(11 q)
Authors: Bader P. I. , Haney S. M. , Munsick R. A. , Schubert S. R. , Hodes M. E. 
Published: June 2005

AbstractWe describe clinically and cytogenetically a fetus with multiple congenital anomalies and partial dup(11 q) born to a phenotypically normal mother with a 3:1 translocation. Fetal anomalies included complete cleft of lip and palate, small penis, myelomenigocele, and abnormal palmar creases. We think chromosome analysis should be performed when neural tube defects are observed in otherwise dysmorphic neonates, stillbirths, and abortuses.
Neural tube defects in Eastern Ontario and Western Quebec: Demography and family data
Authors: Hunter Alasdair G. W. 
Published: June 2005

AbstractThis paper reports the results of a study of families in the Eastern Ontario/Western Quebec region who had a child born with a neural tube defect during the years 1969–1981. As in several other geographic areas, the prevalence of neural tube defects at birth has fallen from previous levels. However, there was no evidence of further decline during the period of study. Socioeconomic and ethnic influences were noted, but there was no evidence of seasonal variation or any correlation with maternal age or parity. There was support for a causative role of maternal fever in some cases. The rates of miscarriage varied between pregnancies before and those after the proband, and there was an excess of males born prior to the proband. Family studies showed a 2.4% risk for sibs born after the proband and an excess of affected relatives on the maternal side. Knowledge of rates of occurrence in relatives is useful for counseling and the interpretation of the results of alpha‐fetoprotein screening.
The tricho‐rhino‐phalangeal syndrome with exostoses (or Langer‐Giedion syndrome): Four additional patients without mental retardation and review of the literature
Authors: Langer Leonard O. , Krassikoff Natalie , Laxova Renata , Scheer‐Williams Mary , Lutter Lowell D. , Gorlin Robert J. , Jennings Charles G. , Day Donald W. 
Published: June 2005

AbstractWe report on four patients with tricho‐rhino‐phalangeal syndrome with exostoses (TRPSE) who were not mentally retarded and review 32 previously published cases. These data enable more complete delination of the phenotype and document the variability of the clinical and radiographic manifestations. Information on the genetics and the association with del(8q) is discussed, as are management and avenues for further investigation. The apparent variability of intelligence in TRPSE patients together with the high incidence of other problems, including significant delay in speech development and hearing loss, make systematic multidisciplinary evaluation and long‐term treatment necessary to achieve the best outcome.
Maternal reproductive loss and cleft lip with or without cleft palate in human embryos
Authors: Shiota Kohei 
Published: June 2005

AbstractRecognized spontaneous abortions in previous pregnancies were significantly more frequent in mothers of 87 Japanese embryos with cleft lip with or without cleft plate (CL(P)) than in mothers of normal embryos. The number of prior pregnancies was found to be smaller in mothers of CL(P) embryos with additional defects, suggesting that unrecognized abortions might also occur more frequently in these women. The higher incidence of abortions was associated with more severe forms of CL(P), ie, CL(P) with associated anomalies rather than isolated CL(P), and bilateral rather than unilateral CL. These results are compatible with the “multifactorial two‐threshold” model with a lower threshold beyond which the malformation occurs and a higher one beyond which the embryo dies. The present results are in contrast with the reduced spontaneous abortion rates in families of CL(P) probands reported previously. The reduced rates may be due to selection of those families in which CL(P) embryos escaped spontaneous abortion and survived to birth, although the effects of compensatory reproduction or maternal recall bias in postnatal data cannot be ruled out completely.
Fibrochondrogenesis: Lethal, autosomal recessive chondrodysplasia with distinctive cartilage histopathology
Authors: Whitley Chester B. , Langer Leonard O. , Ophoven Janice , Gilbert Enid F. , Gonzalez Claudette H. , Mammel Mark , Coleman Michael , Rosemberg Sergio , Rodriques Consuelo J. , Sibley Richard , Horton William A. , Opitz John M. , Gorlin Robert J. 
Published: June 2005

AbstractFibrochondrogenesis is a rare, neonatally lethal rhizomelic chondrodysplasia distinguished from other forms of lethal dwarfism by broad long‐bone metaphyses, pear‐shaped vertebral bodies, and by microscopic changes of cartilage with unique interwoven fibrous septa and fibroblastic dysplasia of chondrocytes. We report the second and third well‐documented cases of this apparently autosomal recessive disorder and discuss differential diagnosis.
Fibrochondrogenesis: Radiologic and histologic studies
Authors: Eteson Donna Jane , Adomian Gerald E. , Ornoy Asher , Koide Toshio , Sugiura Yasuo , Calabro Anna , Lungarotti Serena , Mastroiacovo Pierpaolo , Lachman Ralph S. , Rimoin David L. 
Published: June 2005

AbstractFibrochondrogenesis is a distinct, neonatally lethal, short‐limb skeletal dysplasia which was first described in a single patient in 1978. We report the radiographic and morphologic studies of 2 additional unrelated stillborn infants with fibrochondrogenesis. This syndrome has distinct radiographic and chondro‐osseous morphologic defects different from those seen in the other known skeletal dysplasias. The long bones are short and dumbbell‐shaped with metaphyseal flare. The spine is platyspondylic with superior‐inferior clefting defects, and the ribs are short and distally cupped. The growth‐plate cartilage is grossly disorganized and has a densely fibrous collagenous matrix when examined by light and electron microscopy. Light, transmission, and scanning electron microscopy shows diaphyseal and metaphyseal trabecular bone to be normal.
High‐resolution chromosome analysis: I. Applications and limitations
Authors: Schwartz Stuart , Palmer Catherine G. 
Published: June 2005

AbstractHigh‐resolution chromosome preparations were examined in 55 couples experiencing multiple spontaneous abortions to determine if such studies might provide additional cytogenetic information. One translocation [46,XY, t(14;18)(q32;q22.2)] was detected that was not observed on routine metaphase preparations (GTG banding). In addition, an abnormality (not from the original sample) suspected on routine analysis was accurately identified as [46,XY, dir ins(12;21) (p12.3;q22.‐1q22.2)] only after high‐resolution studies. Metaphases with a total of 500–650 discernible bands per haploid set are most informative for high‐resolution analysis of a complete karyotype. Chromosomes yielding this number of bands demonstrate 6.7–14.2% homolog discordance and usually require only three to five karyotypes to reach a diagnosis. GTG proved more effective than RBG banding in conjunction with high‐resolution studies.
Linkage analysis in lattice corneal dystrophy
Authors: Kivlin J. D. , Lovrien E. W. , Maumenee I. H. , Bishop D. T. , Bias W. 
Published: June 2005

AbstractTwo kindreds of lattice corneal dystrophy (LCD) [McKusick, 1983, catalog No. 12220] were studied for linkage. Fifty‐one relatives were examined clinically, and 27 affected and 24 normal persons were ascertained. Tight linkage could be excluded for 15 informative markers with LOD scores of less than — 2.0. The largest positive LOD score was 0.56 at θ = 0.17 for linkage between haptoglobin and LCD. Combined with a previous study, the combined LOD score is 0.96.
The Potter sequence: A clinical analysis of 80 cases
Authors: Curry Cynthia J. R. , Jensen Karen , Holland Julie , Miller Linda , Hall Bryan D. 
Published: June 2005

AbstractEighty cases of Potter sequence due to a renal or urologic abnormality were studied retrospectively. The abnormal renal findings were bilateral renal agenesis in 21.25%; cystic dysplasia in 47.5%; obstructive uropathy in 25%; and others in 5.25%. Fifteen patients had multiple congenital anomalies; of these three had aneuploidy, four had autosomal recessive syndromes, and eight were of unknown cause. Results of chromosome analysis in 41 patients and 21 sets of parents were abnormal in three patients, one of whom had a balanced translocation carrier parent; two additional patients and three parents had apparently balanced translocations. There was one recurrence within the study (the first child had bilateral renal agenesis and the second cystic dysplasia). The ultrasound prenatal diagnosis of the renal abnormality was made in eight cases between 18 and 34 weeks. Family histories were suggestive of an autosomal dominant gene disorder with incomplete penetrance in four of 45 families with nosyndromic bilateral renal agenesis and cystic dysplasia. The evaluation of patients with the Potter sequence should include an examination for nonrenal defects, autopsy, chromosome analysis, and renal ultrasound or urologic evaluation of parents. Ultrasonographic prenatal monitoring of subsequent pregnancies in such families is strongly warranted because of a definite but unknown degree of recurrence risk.
Prenatal diagnosis of a severe deforming type of osteogenesis imperfecta
Authors: Aylsworth Arthur S. , Seeds John W. , Guilford W. Bonner , Burns Charles B. , Washburn David B. 
Published: June 2005

AbstractA pregnancy at risk for a severe deforming type of osteogenesis imperfecta (OI) was monitored by ultrasonography and radiography. Long bone measurements were normal at 151/2 weeks gestation, but ultrasound detected an abnormality of one femur that appeared to be a fracture. The ultrasound study at 19 weeks revealed severe shortness of the femora, and radiographs showed only vertebral bodies with no other fetal skeletal parts clearly visible. These studies indicate the feasibility of prenatal diagnosis before 20 weeks for the more severe handicapping types of OI that are compatible with survival past the newborn period and that can result in death during later infancy.
Recurrence risk estimation of acute intermittent porphyria based on analysis of porphobilinogen deaminase activity: A Bayesian approach
Authors: Bonaïti‐Pellié C. , Phung L. , Nordmann Y. 
Published: June 2005

AbstractRed cell porphobilnogen deaminase is known to be an indicator of the carrier state for acute intermittent porphyria (AIP). This enzyme was assayed in three groups of individuals at least 15 years old: 105 affected individuals or obligate carriers, 234 unaffected first‐degree relatives of patients, and 217 unrelated control persons. Analysis of the distribution of the control enzyme activities suggested presence of three commingled distributions. Also, the overlap between carrier‐group and control‐group values must be taken into account for genetic counseling of relatives whose enzyme activity lies within the overlap. A Bayesian approach is proposed to derive risks for these individuals, using the observed carrier and control distributions. The method is illustrated by deriving risks for a family from our sample.
Hyperpipecolic acidemia in neonatal adrenoleukodystrophy
Authors: Kelley Richard I. , Moser Hugo W. 
Published: June 2005

AbstractSerum pipecolic acid was measured in patients with neonatal adrenoleukodystrophy (NALD), sex‐linked ALD, and the cerebrohepatorenal syndrome of Zell‐weger. Pipecolic acid was elevated, often markedly, in most of the patients with NALD but in none of those with X‐linked ALD or adrenomyeloneuropathy, or in normal adults and children, or children with cirrhosis of other neurodegenerative disorders.The demonstration of elevated serum pipecolic acid in NALD adds to the previously recognized elevation of very‐long‐chain fatty acids (another Zellweger syndrome sign) and suggests that generalized peroxisomal dysfunction may be a characteristic of NALD as it appears to be of Zellweger syndrome, which diseases share some clinical characteristics. The nosologic significance of these findings is discussed.
Deletions of the long arm of chromosome 6: Two new cases and review of the literature
Authors: Young R. S. , Fidone G. S. , Reider‐Garcia P. A. , Hansen K. L. , McCombs J. L. , Moore C. M. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractSeven terminal deletions and four interstitial deletions of 6q have been reported. We present the clinical and cytogenetic findings of these cases and of two new patients with different interstitial deletions of 6q. Although there are too few cases of interstitial deletions to identify one or more clinical syndromes associated with monosomies of the more proximal regions of 6q, a terminal 6q deletion syndrome is proposed. Its major components are microcephaly with mental retardation, strabismus, apparently low‐set malformed ears, a broad nasal bridge, micrognathia, apparently short neck, congenital heart defect, abnormal palmar creases, and various hand abnormalities.
Hairbulb tyrosinase activity in oculocutaneous albinism: Suggestions for pathway control and block location
Authors: King Richard A. , Olds David P. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractHairbulb tyrosinase activity was determined in 72 individuals with five types of oculocutaneous albinism (OCA) and 64 obligate heterozygotes. Type IA (tyrosinase‐negative) and type IB (yellow mutant) individuals had low or no measurable tyrosinase activity, and heterozygotes for these two types could be detected with this assay. Type II (tyrosinase‐positive) individuals had moderate to high activity, and the heterozygotes for this type could not be detected. Type III (minimal pigment) individuals had low activity, and heterozygote levels were useful in detecting this type of OCA. Type VI (Hermansky‐Pudlak syndrome) individuals had moderate to no measurable activity, and heterozygotes for this type could not be detected. The implication of the tyrosinase assay results in light of the phenotype and the possible location of the pigment block in these forms of OCA are discussed.
Genetic epidemiology of twinning: A population‐based study
Authors: Philippe P. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on kinship analysis of mothers with twins and a study of their ancestors and inbreeding. A pair‐matched case‐control design supports the analyses. Nearly as high a number of ancestors was found at the origin of cases as in control individuals. Study cases were less inbred than control subjects, but their kinship was higher, especially for unlike‐sex twins born after age 30 years. The results indicate a genetic origin of both types of twins and possibly a highly spread gene with dominant or co‐dominant expression.
Duplication of hands and feet, multiple joint dislocations, absence of corpus callosum and hypsarrhythmia: Acrocallosal syndrome?
Authors: Sanchis Amparo , Cerveró Luís , Martínez Antonio , Valverde Carlos , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe describe a 14‐month‐old female infant with absence of corpus callosum, atrophy of optic nerve, peculiar face, complex polydactyly, multiple joint abnormalities, and femoral shortness. The similarities to and differences from previously reported cases of this kind suggest that our patient has a new type of acrocallosal syndrome.
Red blood cell adenine nucleotides abnormalities in down syndrome
Authors: Stocchi Vilberto , Magnani Mauro , Cucchiarini Luigi , Novelli Giuseppe , Dallapiccola Bruno , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractThe red blood cell adenine nucleotides of 20 Down Syndrome patients and 20 healthy controls were determined by a new high‐performance liquid chromatography method. All patients showed increased concentrations of adenosine 5′‐diphosphate (ADP) and adenosine 5′‐monophosphate (AMP), while adenosine 5′‐triphosphate (ATP), nicotinamide adenine dinucleotide (NAD+) and nicotinamide adenine dinucleotide phosphate (NADP+) were within normal ranges. This alteration of the energetic charge could be partly responsible for the impairment of glucose metabolism in these patients.
Multicore disease in sibs with severe mental retardation, short stature, facial anomalies, hypoplasia of the pituitary fossa, and hypogonadotrophic hypogonadism
Authors: Chudley Albert E. , Rozdilsky Bohdan , Houston C. Stuart , Becker Lawrence E. , Knoll Joan H. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe describe a family in which two adult sibs presented with a history of congenital nonprogressive myopathy, severe mental retardation and evidence of mild generalized weakness, short stature, musculoskeletal deformities, facial anomalies, sexual infantilism, and radiologic evidence of pituitary hypoplasia. The parents were first cousins. An excess of other, apparently unrelated, genetic conditions were present in other family members. Results of histochemical and electron microscopy studies of muscle biopsies from both affected individuals were compatible with multicore disease. This newly described syndrome likely is an autosomal recessive trait and appears to be the first reported association of multicore disease with mental retardation.
Deletions of the long arm of chromosome 10
Authors: Shapiro Steven D. , Hansen Kathryn L. , Pasztor Linda M. , DiLiberti John H. , Jorgenson Ronald J. , Young Robert S. , Moore Charleen M. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractPatients with a partial deletion of the long arm of chromosome 10 are rare. We report eight new cases involving various segments of 10q: one terminal deletion (10q26), four (8;10) translocations resulting in terminal deletions (10q26) and duplications (8q24:3), a de novo interstitial deletion (10q23), an interstitial deletion due to a (10;13) translocation (10q11.2 → 10q22.1), and a ring (10p15 → 10q26).
Distichiasis, congenital heart defects and mixed peripheral vascular anomalies
Authors: Goldstein Stanley , Qazi Qutub H. , Fitzgerald Joseph , Goldstein Joseph , Friedman Anita P. , Sawyer Philip , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on a previously apparently unreported syndrome of distichiasis with congenital heart defects and with mixed peripheral vascular anomalies in a mother and her four children. The mother had a ventricular septal defect; both daughters had surgery for patent ductus arteriosus. Sinus bradycardia alone (elder son), with stress induced asystole (younger son), and with wandering atrial pacemaker (both daughters) are documented electrocardiographically. Three of the five have edema, two have visible varicosities, three have symptoms consistent with chronic venous disease of the legs, and the older daughter has complaints consistent with arterial disease in the legs. Doppler flow studies demonstrated post‐phlebitic syndrome in all but the younger daughter, and vasospastic disease in the mother, older daughter, and second son.
Familial spinocerebellar degeneration with corneal dystrophy
Authors: Kaloustian Vazken M. Der , Jarudi Nabil I. , Khoury Muin J. , Afifi Adel K. , Bahuth Nadia B. , Deeb Mary E. , Shammas John , Mikati Muhammad A. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on two sisters born to normal but consanguineous parents, with the unusual combination of spinocerebellar degeneration and corneal dystrophy. Their manifestations include mental subnormality, bilateral corneal opacification starting in the second year of life and leading to severe visual impairment, and slowly progressive cerebellar abnormalities with variable dorsal column and upper motor neuron involvement. A third sister had only minor spinocerebellar signs but no eye findings, and three other sibs were completely normal. Both affected sisters underwent penetrating keratoplasty and their vision improved. Histologic examination showed findings of corneal dystrophy including corneal edema, thickening of Descement membrane, and degenerative pannus. High‐resolution light and electron microscopy of muscle and sural nerve performed on both patients was abnormal. It is suggested that, in this family, the corneal dystrophy and spinocerebellar degeneration are pleiotropic manifestations of an autosomal‐recessive disorder.
The centralized prenatal genetics screening program of New York City III: The first 7,000 cases
Authors: Benn Peter A. , Hsu Lillian Y. F. , Carlson Ann , Tannenbaum Hody L. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractThe Prenatal Diagnosis Laboratory of New York City (PDL) is a regional program for the prevention of genetic diseases. The administrative aspects of the establishment of the laboratory were described in papers I [Hsu, 1981] and II [Hsu and Benn, 1981] in this series. We now report our experience of the first 7,000 referrals to the laboratory.The laboratory achieved a success rate of 99.5% in obtaining a diagnosis. The frequency with which a repeat amniocentesis was required was 1.9%, usually attributable to inadequate initial amniotic fluid volume or condition. Cases were completed in an average time of 20.82 days.A total of 149 (2.13%) cytogenetic abnormalities were detected. There were 59 nonmosaic autosomal trisomies and 29 sex chromosome abnormalities. The incidence of unbalanced structural abnormalities (0.186%) was much higher than that reported in surveys of newborn infants largely because of the prenatal detection of cases with supernumerary chromosomes. The incidence of balanced structural abnormalities was also considerably higher than that found in surveys of the newborn population, in part because of the detection of subtle familial pericentric inversions of common chromosome regions (inv Y)(p11q11), inv(2)(p11q13), and inv(1)(p11q13). The incidence of cases with multiple independent chromosome abnormalities was no higher than expected by chance. A high incidence of mosaicism, pseudomosaicism, and maternal cell contamination was found. Screening for neural tube defects accounted for the detection of a further 16 abnormalities.Nearly all women with severely abnormal fetuses (trisomy 13, 18, 21) elected to terminate their pregnancy whereas only 62% of patients with a prenatally.