bluuebunny/crossref_metadata_2025_split huggingface dataset:
Cohen syndrome: Further delineation and inheritance
Authors: Kousseff Boris G. , Opitz John M. 
Published: June 2005

AbstractFour sibs, 2 males and 2 females, were found to have the Cohen syndrome. All had moderate mental retardation, microcephaly, hypotonia, and narrow hands and feet with elongated fingers and toes; 3 were short of stature (2.0–3.5 SD below the mean) with weight between 10th and 50th centile and truncal obesity. Most of the facial characteristics of the syndrome were present: exotropia, prominent ears, short philtrum, and high nasal bridge. Each manifestation varied in severity from one sib to the other. The younger girl also had rheumatoid arthritis. Mild delay of puberty was described in 3 of the sibs. However, one of them has delivered a male infant with normal appearance whose psychomotor development has been normal (as of 9 months). No endocrine problems were documented in the sibship. All patients had normal chromosomes.The data on this sibship support the hypothesis of autosomal recessive inheritance of the Cohen syndrome. Microcephaly and short stature should be stressed as frequent manifestations of the syndrome. The variable expressivity, even among sibs, may be responsible for the paucity of reports on the mildest froms of the Cohen syndrome.
Nerve deafness, optic nerve atrophy, and dementia: A new X‐linked recessive syndrome?
Authors: Genes Peter K. A. , Opitz John M. 
Published: June 2005

AbstractA new syndrome characterized by sensorineural hearing loss (beginning in early infancy), progressive optic nerve atrophy, and dementia (beginning in adult‐hood) is described in 3 males in the same family. This is probably an X‐linked recessive trait.
Genetic linkage analysis of dermo‐distortive urticaria
Authors: Epstein Paul A. , Kidd Kenneth K. , Sparkes Robert S. , Opitz John M. 
Published: June 2005

AbstractWe have described a new hereditary physical urticaria, dermo‐distortive urticaria (DDU) [1]. In an attempt to map the locus of this autosomal‐dominant disorder and to further characterize it, a linkage analysis with 18 genetic markers was done. Close linkage of DDU with TCII, GALT, Gc, Fy, Kell, and Se was excluded. The most significant positive lod score was for the MNSs blood antigen system, which has a maximum lod score of 1.09 at θ = 0.24 for all 28 family members who were typed. Although close linkage with DDU is not demonstrated at any marker, this study illustrates how linkage analysis may prove to be of value in the characterization of newly discovered heritable disorders.
Schisis‐association
Authors: Czeizel Andrew , Opitz John M. 
Published: June 2005

AbstractThe neural tube defects (anencephaly, encephalocele, spina bifida cystica), oral clefts (cleft lip ± palate, posterior cleft palate), omphalocele, and diaphragmatic hernia associate with one another far more frequently than at the expected random combination rates. The combination of other abnormalities does not exceed the expected rate. Thus, two or more combinations of schisis‐type abnormalities without other defects were treated as a provisional entity. The schisis‐association is practically a lethal abnormality. It occurs more often in girls (sex ratio: 0.33), in twins (4.6%), in breech presentations (13.7%), in association with lower mean birth weight (1,931 gm), and in association with a shorter gestation period (36.4 weeks). Mothers of affected children have a significantly higher miscarriage rate; occurrence of schisis‐type abnormalities was found in 3.7% of the sibs of index patients. However, except for one, the sib‐occurrences of schisis abnormalities were isolated neural tube defects or oral clefts.
Heterozygote detection in fabry disease utilizing multiple enzyme activities
Authors: Sheth Kumudchandra J. , Good Thomas A. , Murphy Jerome V. , Opitz John M. 
Published: June 2005

AbstractIn Fabry disease, as in other X‐linked traits, identification of all heterozygotes is difficult. Reduced plasma α‐galactosidase activities will correctly identify 60–70% of the carriers. The identification rate improves when an α/β‐galactosidase activity enzyme ratio is used. We measured α‐galactosidase activity in reference to several other enzyme activities, β‐galactosidase, β‐hexosaminidase, and α‐fucosidase in plasma and leukocytes from 22 suspected and 9 obligate carriers from 4 kindreds of Fabry disease patients. Utilizing such ratios or various combinations of ratios in plasma we have correctly identified the carrier state in 91% of heterozygotes. Leukocyte α/β‐galactosidase identified one more female than leukocyte α‐galactosidase activities alone. We recommend the use of such multiple biochemical tests to identify carriers of Fabry disease.
The usefulness of NOR and RFA banding in prenatal diagnosis: A case report
Authors: Sciorra Leonard J. , Rajendra Barathur , Cummings Emilie , Ekblom Linda , Lee Ming‐liang , Opitz John M. 
Published: June 2005

AbstractPrenatal chromosome analysis of amniotic cells showed a male fetus to carry an unusual marker D chromosome containing extra genetic material on the short arm, which could be interpreted as a possible t(D;G) or t(D;Fq) unbalanced translocation using non‐branded preparations or a routine GTG band method. Analysis of this marker by NOR and RFA banding and parental chromosome studies showed the marker to be an unusual variant of the satellited area of chromosome 15, with no associated phenotypic anomalies. The usefulness of NOR and RFA banding as aids in chromosome identification in prenatal diagnosis is discussed.
Duplication 3q: Severe manifestations in an infant with duplication of a short segment of 3q
Authors: Rosenfeld Warren , Verma Ram S. , Jhaveri Ramesh C. , Estrada Raul , Evans Hugh , Dosik Harvey , Opitz John M. 
Published: June 2005

AbstractA patient with duplication of a short segment of 3q (3q21→26) without apparent deletion of 3 or of other chromosomes provided a further opportunity to study manifestations of this abnormality. The proposita had a broad nasal bridge, anteverted nostrils, webbed neck, and clinodactyly V in addition to congenital heart disease, limb abnormalities, cleft palate, and severe developmental delay. The infant did not have the hirsutism and synophrys present in other cases.
Genetic transmission of serum IgE levels
Authors: Blumenthal Malcolm N. , Namboodiri Kadambari , Mendell Nancy , Gleich Gerald , Elston Robert C. , Yunis Edmund , Opitz John M. 
Published: June 2005

AbstractGenetic aspects of IgE levels were studied in three large pedigrees, many of whose members had atopic sensitivities to ragweed. Data on 184 persons (80 M, 104 F) were analyzed by the methods of Elston and Stewart after logarithmic transformation and appropriate adjustment for sex and age effects. Several modes of transmission were fitted to the data. The environmental model (of equal transmission frequency for all genotypes) clearly did not fit the data (χ2 23.03, df 3); this suggested a strong hereditary involvement in IgE distribution. High IgE levels being determined by a dominant allele gave the best fit among the hypotheses examined in pooled data. Under a pure polygenic model, the estimated heritability was 49.5%. Using a mixed model of major gene and polygenic transmission (in an analysis which approximates, but is biased toward inflating the major gene component) polygenic inheritance was found to be 11%, but has no significant improvement over the major gene model. When families are analyzed separately, there was evidence of significant heterogeneity among families. The genetic picture was blurred, with one family favouring recessive inheritance of high IgE levels, one with no clear mode, and the third leaning slightly in favor of dominant inheritance. This suggests that the mechanism is not as simple as was thought and that there may be either two alleles or one gene involved in the determination of IgE levels. The findings are consistent with IgE levels being genetically determined with heritability estimated to be about 50%.
Familial pericentric inversion of chromosome 8
Authors: Sujansky Eva , Smith Ann C. M. , Peakman David C. , McConnell Thomas S. , Baca Patricia , Robinson Arthur , Opitz John M. 
Published: June 2005

AbstractEight children from seven presumably unrelated families were identified independently as having an unbalanced recombinant chromosome resulting in the presence of extra material on the short arm of a chromosome 8. Parental chromosomes were analyzed, and one member of each couple (four fathers and three mothers) was found to carry a pericentric inversion of a chromosome 8 [inv(8)(p23q22)]. The propositi had an unbalanced recombinant chromosome [rec(8),dup q,inv(8)(p23q22)]. The affected infants all had developmental delay, congenital heart disease, and unusual appearance. A common origin of the pericentric inversion was suggested because of geographic location and Mexican—American ancestry of the seven families.
On genetic screening of donors for artificial insemination
Authors: Fraser F. Clarke , Forse R. Allan , Opitz John M. 
Published: June 2005

AbstractReliable information on the frequency of birth defects in children conceived by artificial insemination is lacking and should be collected. Genetic screening of donors for artificial insemination is recommended, and guidelines are proposed. These consider the kinds of disorder in the presumptive donor, or his relatives, that would preclude his use as a donor, and the steps to be taken with respect to genetic counseling if a defective baby is born following the procedure.
Prenatal fetoscopic diagnosis of the Apert syndrome
Authors: Leonard Claire O. , Daikoku Norman H. , Winn Kevin , Opitz John M. 
Published: June 2005

AbstractWe report the prenatal diagnosis of the Apert syndrome by fetoscopy. The patient was a 22‐year‐old college student with this autosomal dominant form of acrocephalosyndactyly whose first pregnancy had resulted in a stillborn, affected infant. Fetoscopy at 17 weeks showed that she was carrying another affected fetus, and the pregnancy was terminated.
Genetic aspects of Huntington's chorea: Results of a national survey
Authors: Hayden M. R. , Beighton P. 
Published: June 2005

AbstractIn a nationwide survey of South Africa we ascertained and investigated 157 persons with Huntington's chorea and collected data on a further 328 deceased individuals who had probably been affected. Of the 157 respondents, 17 had a juvenile onset and in 13 of these the father had been the affected parent. Further analysis of these data shows that the father had transmitted the gene to 5 of the 6 children with onset in the first decade. The heterozygote frequency in the combined white population and the group of mixed ancestry is 6.7 × 10−5 and the minimum number of heterozygotes is 458 in South Africa (1 in 13,000). The disorder is extremely rare in African Negroes; only 3 affected individuals were identified out of a population of 19 million.
Phenotypic effects of inherited balanced translocation
Authors: Ying Zhao , Zaiyu Cheng , Chunyun Liu , Lo Wilson Hwei‐yuen , Opitz John M. , Opitz John M. 
Published: June 2005

AbstractWe report two cases of inherited balanced translocation with severe CNS abnormalities and a number of other physical findings. In both cases a multiple congenital anomalies/mental retardation (MCA/MR) syndrome was supected However, in one case, parturitional and neonatal complications probably resulted in brain damage; in the other, prenatal brain damage due to intoxication from a dead twin or porencephalic cysts due to vascular accidents remain unconfirmed hypotheses. It is concluded that no MCA/MR syndrome was present and that the inherited balanced translocation was a coincidental finding in these two braindamaged, mentally retarded children.
The distal arthrogryposes: Delineation of new entities – review and nosologic discussion
Authors: Hall J. G. , Reed S. D. , Greene G. 
Published: June 2005

AbstractWe report on 44 patients (18 with additional affected family members), with con genital distal limb contractures identified from a large study of over 350 patients with congenital joint contractures. Fourteen propositi (seven familial cases, seven isolated cases) had a newly recognized form of arthrogryposis, which we have designated distal arthrogryposis type I, with the predominant manifestations of autosomal dominant inheritance; tightly clenched fists at birth, with medially overlapping fingers, ulnar deviation, and camptodactyly in adults; and positional foot deformities. Contractures at other major joints are variable. There are no associated visceral anomalies; intelligence is normal. There can be marked intrafamilial and interfamilial variability. Twenty‐two propositi with similar distal contractures had additional findings and were classified into five subcategories of distal arthrogryposis (type IIA‐E). Among type II patients cleft palate, cleft lip, small tongue, trismus, ptosis, epicanthal folds, keratoconus, short stature, scoliosis, a unique hand position, and dull normal intelligence were seen. These characteristics were seen in various combinations and patterns and allowed sorting into groups that were the basis for the categorization. The remaining eight propositi were recognized to have previously described conditions with distal contractures and autosomal dominant inheritance, ie, the Freeman‐Sheldon syndrome, trismus‐pseudocamptodactyly syndrome, congenital contractual arachnodactyly, and familial camptodactyly.Pathogenetically we postulate similar underlying defects of abnormal tendon attachments, attenuation, and absence; careful nosologic comparisons are important for prognostic counseling and habilitative management.
The genetics of malignant hyperthermia: Evidence for heterogeneity
Authors: McPherson Elspeth , Taylor Claude A. , Opitz John M. 
Published: June 2005

AbstractStudy of phenotype and familial distribution of malignant hyperthermia (MH) suggests heterogeneity with MH possibly being a symptom of several disorders. Review of all reported family studies supports the concept of heterogeneity with autosomal dominant inheritance in about one‐half of the families. There is no strong evidence for other mendelian patterns of inheritance, but sporadic and possibly multifactorially determined cases are common. MH is also seen in other musculoskeletal disorders. We report 12 Wisconsin families with MH and outline a preliminary approach to the counseling of MH patients and their families.
Phenylalanine levels in PKU following minor surgery
Authors: Fiedler Albert E. , Miller Martha J. , Bickel Horst , Cederbaum Stephen D. 
Published: June 2005

AbstractSerum phenylalanine values were measured in 10 PKU patients who had minor operations. No individual value exceeded 17 mg/dl and the interpolated mean did not exceed 10 mg/dl on any postoperative day. These data confirm the consensus that minor surgery does not cause major and long‐lived perturbations of serum phenylalanine levels in PKU and requires no special dietary measures.
The Angelman (“Happy Puppet”) syndrome
Authors: Williams Charles A. , Frias Jaime L. , Opitz John M. 
Published: June 2005

AbstractWe report studies of six patients with the Angelman “Happy Puppet” sydrome and compare the data with those from previous reports. The results confirm the classic findings of severe mental retardation, “puppet‐like” gait, characteristic craniofacial abnormalities, and frequent episodes of laughter and suggest that this syndrome is more common than previously thought. Computerized axial tomographs of the brain demonstrating unilateral cerebellar atrophy in one patient constitute the first direct evidence of cerebellar abnormalities in this syndrome.
Genetic aspects of retinitis pigmentosa in China
Authors: Hu Dan‐Ning 
Published: June 2005

AbstractWe analyzed 151 pedigrees (209 cases) of retinitis pigmentosa in Shanghai, China. Of the 209 cases, the proportion of autosomal recessive (AR), autosomal dominant (AD), X‐linked recessive (XR), and simplex cases is 33.1, 11, 7.7, and 48.3% respectively. The average age of onset was 24.7 years in the AD type, 22.9 years in the AR and five years in the XR type. The average refractive errors were −1.88 D in the AD type, −2.37 D in the AR type, and −5.72 D in the XR type. In addition, 24, 100 persons were screened and six cases of retinitis pigmentosa were found. The gene frequencies of the AR (including simplex cases), AD, and XR types as calculated from the disease prevalence were 0.0142267, 0.0000137, and 0.0000384, respectively. The gene frequency of the AR type as calculated from the frequency of consanguinity (15.9%) was 0.00389, which is much less than that calculated from the prevalence. The probable explanation is that the AR type of retinitis pigmentosa really consists of several different disease entities, with each entity representing a separate gene mutation. The number of different mutations within the AR group is estimated to lie between 11 and 41.
Tetrasomy 21 in an infant with down syndrome and congenital leukemia
Authors: Jabs Ethylin Wang , Stamberg Judith , Leonard Claire O. , Opitz John M. 
Published: June 2005

AbstractA prematurely born infant with the manifestations of Down syndrome and congenital monocytic leukemia was found, by Q and R banding, to have the karyotype 48,XY, +21, +21. This appears to be the first case of tetrasomy 21 documented by banding.Clinically, the infant was indistinguishable from trisomic Down syndrome patients. He died at 4 days of respiratory insufficiency owing to hyaline membrane disease and E coli septicemia.
Partial trisomy 15 in a male with severe psychomotor retardation (48,XY,+15q−, +mar(15))
Authors: Voss Ruth , Lerer I. , Maftzir G. , Sheinis M. , Cohen M. M. 
Published: June 2005

AbstractAn abnormal karyotype consisting of 48 chromosomes has been found in a 16‐year‐old boy with severe psychomotor retardation and congenital anomalies. The two extra chromosomes: a 15q− and a small metacentric marker appear as derivatives of chromosome 15 (48,XY, +15q−, +mar(15). The healthy father has a mosaic chromosome constitution 46,XY/47,XY, +mar(15) and this additional chromosome is also present in the propositus. It is suggested that the presence of the extra chromosome in the father's germ cells may play a role in the production of the additional 15q− chromosome responsible for the clinical syndrome of the propositus.
Assessment of clinical variables and counseling needs in patients with retinitis pigmentosa
Authors: Boughman Joann A. , Caldwell Robin J. , Opitz John M. 
Published: June 2005

AbstractMany medical and personal factors must be considered when attempting to provide comprehensive genetic counseling to families with retinitis pigmentosa (RP). Adequate diagnostic evaluation, the initial step in the counseling process, is not always readily obtained. Prognosis is difficult to assess, and genetic type may be impossible to establish in certain pedigrees. A nationwide questionnaire survey of 899 probands with RP and allied disorders was conducted, and generated data on the patient's perceptions of the clinical aspects of the disease, family history, and the understanding of the disorder by affected persons and their relatives.This study emphasizes the clinical variability of RP and summarizes differences in age of onset of the different genetic types. Clearly, patients must be evaluated extensively and carefully to diagnose retinitis pigmentosa accurately. The extent and limitations of the diagnostic evaluation should be clearly understood by the counselor because some patients with sporadic phenocopies may be diagnosed as having retinitis pigmentosa. Counseling about prognosis should include information regarding the great variation among and within inheritance groups, families, and individuals with respect to age of onset and natural history of the disorder. All patients should be considered for hearing evaluations since as many as 30% of RP patients may have hearing impairments. Because no treatment is currently available for most RP patients, genetic counseling and supportive follow‐up should be viewed as an essential service for this common group of genetic disorders, and cooperation with the ophthalmologic diagnostician should be actively sought.
Neural tube defects and maternal hyperthermia in early pregnancy: Epidemiology in a human embryo population
Authors: Shiota Kohei , Opitz John M. 
Published: June 2005

AbstractA causal relationship between neural tube defects and maternal febrile illness in early pregnancy was investigated retrospectively using human embryo data from Japan. The frequency of febrile illness was compared with corresponding data from normal controls, and holoprosencephalic and polydactylous embryos. Within the group of neural tube defects, the prevalence of maternal hyperthermia was significantly higher than in normal control and holoprosencephaly mothers. The association was constant and highly significant specifically for exencephaly, which is an embryonic forerunner of anencephaly. The correlation with myeloschisis (without exencephaly) was not significant. In eight out of the ten cases in which the timing of the fever was known, it occurred during the clinically determined critical period of neural tube closure in human embryos. These results support the hypothesis that maternal hyperthermia in early pregnancy can cause neural tube defects in man, especially anencephaly.
Mucolipidosis IV
Authors: Crandall Barbara F. , Philippart Michel , Brown W. Jann , Bluestone David A. 
Published: June 2005

AbstractWe review all reported cases of Mucolipidosis IV, add a new one, and present evidence for a generalized phospholipid storage. All phospholipids were increased in the liver, skin fibroblasts and urine. Lysobisphosphatidic acid which was markedly elevated in these samples was the only lipid stored in muscle. A slowly progressive neurological disease with mental retardation and corneal opacities, but lacking mucopolysaccharide excretion, skeletal changes and organomegaly should raise the suspicion of this disease. At this time, the diagnosis is made by EM studies of skin or conjunctiva which should be done if results of tests on serum or bone marrow for lysosomal diseases are normal. We found some of the typical inclusions in skin fibroblasts from an obligate carrier, which suggests that distinction between the homozygote and heterozygote may be difficult. Despite this, two succeeding pregnancies with normal outcomes were successfully monitored.