bluuebunny/crossref_metadata_2025_split huggingface dataset:
The impact of the federal cutback on genetic services
Authors: Holtzman Neil A. , Opitz John M. 
Published: June 2005

AbstractA survey of directors of federally supported genetics, sickle cell and hemophilia programs was undertaken to determine the effect of reduced federal awards for fiscal year 1983 (FY83). Most states deemed ineligible for federal genetics and sickle cell grants for FY83 were unable to make up federal losses with funds from other sources. In FY82, per capita allocations to genetics and sickle cell programs were not significantly different between states that remained eligible in FY83 and those that became ineligible. In FY83, however, per capita allocations were significantly lower in the ineligible states. If cutbacks were to curtail operations, most program directors would give their highest priority to preserving newborn screening and follow‐up services. Of the 23 states that do not currently charge for newborn screening, 8 are contemplating imposition of a charge. The findings suggest that continued or expanded availability of genetic services depends, in part, on federal support.
Waardenburg syndrome—penetrance of major signs
Authors: Preus M. , Linstrom C. , Polomeno R. C. , Milot J. 
Published: June 2005

AbstractWe have estimated that 83% of individuals carrying the gene for Waardenburg syndrome type I show penetrance of the gene as measured by dystopia canthorum. This is lower than previous estimates, which failed to consider the frequency of equivocal dystopia in the general population. The addition of three other major signs (hearing loss, white forelock, and premature graying of the hair or vitiligo) does not substantially increase the discrimination of gene carriers (85% versus 83%). We estimate that about 75% of the first‐degree relatives of probands can be assigned as normal or a gene carrier on the basis of the four major signs.
Variable phenotype associated with duplication of different regions of 2p
Authors: Fineman Robert M. , Buyse Marylou , Morgan Martha 
Published: June 2005

AbstractPrevious reports suggest that duplication of the distal part of 2p causes a distinct syndrome. Of the 20 published cases, all resulted from a parental translocation. We report here clinical and cytogenetic data on three patients with dup(2p) and few, if any, of the physical findings of the syndrome. Our data suggest that dup(2p) is associated with an extremely variable phenotype which may be quite mild in some cases. It is also possible that many of the nonspecific developmental anomalies thought to be part of the syndrome may be caused by the accompanying deletion.
Screening of mentally retarded males for macro‐orchidism and the fragile X chromosome
Authors: Howard‐Peebles Patricia N. , Finley Wayne H. , Opitz John M. 
Published: June 2005

AbstractFour hundred forty‐four male residents of a state mental retardation institution were screened for macro‐orchidism. Twenty‐six white males (8.3%) and two black males (1.5%) had marked macro‐orchidism (>34 ml). Seven of 17 whites tested for the fragile X were positive; the one black tested was negative. Thus, a minimum of 7/26 or 27% (whites) are fragile X positive indicating potential population variability, also evident from previous reports. Concurrent testing of institutionalized brother pairs indicated over half of the fragile X‐positive males had a strong family history consistent with X‐linked mental retardation.
The oto‐palato‐digital syndrome, proposed type II
Authors: Fitch N. , Jequier S. , Gorlin R. , Opitz John M. 
Published: June 2005

AbstractWe present a follow‐up of the infant with oral, cranial, facial, and limb abnormalities described by us in 1976. Since then, several other very similar cases have been reported. We propose that this syndrome be called the oto‐palato‐digital syndrome, type II.
Probable autosomal recessive inheritance of polysplenia, situs inversus and cardiac defects in an Amish family
Authors: Arnold G. L. , Bixler D. , Girod D. 
Published: June 2005

AbstractWe report on an Amish family with five individuals in two generations with complex congenital heart disease. Autopsy findings in one and clinical examination in the others support the diagnosis of polysplenia “syndrome.” In a mouse model, this spectrum of situs abnormalities and cardiovascular defects shows recessive inheritance with homozygotes having either situs solitus or situs inversus or ambiguous situs. The parents of the four affected sibs are fourth cousins. We think that the father of these four children is an affected but clinically normal homozygote, that his deceased sister was an affected homozygote, and it seems likely that they too had consanguinous parents.
Parents' adaptation to early diagnosis of sex chromosome anomalies
Authors: Puck Mary H. , Bender Bruce G. , Borelli Joyce B. , Salbenblatt James A. , Robinson Arthur , Opitz John M. 
Published: June 2005

AbstractIn 56 structured psychiatric interviews parents were asked to describe their experience as participants in the Denver prospective study of children with sex chromosome anomalies in order to assess its impact on attitudes toward the identified child and on family relationships. It was found that most achieved satisfactory understanding of the diagnosis with minimal disturbance, preferred early disclosure, denied its influence on parent‐child and parent‐parent relationships, and were reasonably comfortable in sharing diagnostic information with the child. Environmental and cultural factors did not correlate with the responses obtained. Emphasis directed toward obstacles in the adaptive process permitted evaluation of reported parental anxieties arising from faulty or delayed communication of the diagnosis, a child's adjustment to problems of growth and development, and, for parents of children with 45,X and 47,XXY chromosome constitutions, anxiety regarding anticipated difficulty in sexual maturation and fertility. The assessment interviews afforded additional opportunity for clinical discussion and counseling with parents on issues of concern to them.
Trisomy 18/trisomy 13 mosaicism in an adult with profound mental retardation and multiple malformations
Authors: Wilson William G. , Shires Mary Ann , Willson Kathy A. , Wyandt Herman E. , Harris Linda M. , Kelly Thaddeus E. 
Published: June 2005

AbstractWe report on an adult woman with profound mental retardation and multiple anomalies who consists of 3 cell lines: one with trisomy 18, one with trisomy 13, and a normal cell line. Her phenotype includes manifestations of both trisomy syndromes. The origin of these cell lines could have been a doubly aneuploid (48,XX+ 13, + 18) or singly aneuploid (47,XX + 18 or 47,XX, + 13) zygote with subsequent mitotic nondisjunctions, or a normal zygote with multiple mitotic nondisjunctions. There have been four previous reports of mosaicism involving both trisomy D and trisomy E; all died in the first six months of life. Two of these cases had a doubly aneuploid (48,XX, + D + E) cell line. Our patient illustrates the need for study of several tissues in patients with complex aneuploidy syndromes or atypical manifestations of a given syndrome (such as prolonged survival), as well as the need for caution in counseling families about prognosis for survival in autosomal trisomies which usually are lethal.
Electron spin resonance spin label studies of the erythrocyte membrane in Duchenne muscular dystrophy
Authors: Clark A. D. , Nash G. B. , Patel K. J. , Wyard S. J. , Opitz John M. 
Published: June 2005

AbstractThe membrane organisation of erythrocytes from patients with Duchenne muscular dystrophy (DMD) and from asymptomatic carriers was studied by the electron spin resonance (ESR) spin label technique. Following the work of Sato et al [1978], we used 2‐(14‐carboxytetradecyl)‐2‐ethyl‐4, 4‐dimethyl‐3‐oxazolidinyloxyl as probe. We found no significant difference in lipid fluidity at 30°C, measured by the ratio of the line height at central field to that at high field ho/h−1, in DMD patients or carriers compared to appropriate control persons. Our conclusions for the dystrophic boys differ from those of Sato et al [1978], although our data are consistent with theirs within experimental error.We also studied the variation of the ratio ho/h−1 over the temperature range 5–35°C in these individuals. For normal erythrocytes there is a discontinuity in this plot around 15°C that is absent in the erythrocytes of DMD patients [in agreement with the findings of Sato et al, 1978] and also absent in DMD carriers. We suggest the slope of this logarithmic temperature plot over the range 15–35°C is a more useful empirical parameter as the presence of these discontinuities is sometimes uncertain, and using this parameter, we find a clear separation between carriers and controls.
The Weissenbacher‐Zweymüller, Stickler, and Marshall syndromes: Further evidence for their identity
Authors: Winter Robin M. , Baraitser Michael , Laurence K. M. , Donnai Dian , Hall Christine M. , Opitz John M. 
Published: June 2005

AbstractWe report on three unrelated children with neonatal radiological characteristics of the Weissenbacher‐Zweymüller (W‐Z) syndrome. Subsequently, they developed the Marshall syndrome. The relationship between the W‐Z, Marshall, and Stickler syndromes is discussed.
The Pena‐Shokeir syndrome: Report of five cases and further delineation of the syndrome
Authors: Chen H. , Blumberg B. , Immken L. , Lachman R. , Rightmire D. , Fowler M. , Bachman R. , Beemer F. A. 
Published: June 2005

AbstractWe report on five cases of lethal Pena‐Shokeir syndrome from three families with affected sibs. In addition to multiple anklyoses, camptodactyly, facial anomalies, and pulmonary hypoplasia, one fetus had pterygia of the neck and axillae and cardiac hypoplasia. Radiographic changes are nonspecific and probably are related to a lack of intrauterine movement. Our data and review of the literature suggest that pterygium formation is one of the manifestations of the Pana‐Shokeir syndrome. A recently described lethal form of the recessively inherited multiple pterygium syndrome may represent a severe form of the Pena‐Shokeir syndrome.
Enhancement of a fra(16)(q22) with distamycin A: A family ascertained through an abnormal proposita
Authors: Dunner Jennifer A. , Martin Alice O. , Traisman Edward S. , Traisman Howard S. , Elias Sherman , Opitz John M. 
Published: June 2005

AbstractA family in which a fragile site at 16q22 was segregating was ascertained through a newborn infant with multiple anomalies. The same fragile site was present in the phenotypically normal father and in a brother with cleft palate. The fra(16)(q22) was similar in appearance, and in response to culture conditions, to that reported by other investigators, including increased breakage in media supplemented with distamycin A. Sampling variation in the frequency of breakage over time may be considerable in some individuals. No pattern of anomalies was found to be associated with the fragile site. However, the reproductive history of the family we report (two livebirths with major congenital anomalies and one stillbirth) suggests caution in concluding fra(16)(q22) is not deleterious.
Mitral valve prolapse and aortic dilatation in the fragile X syndrome
Authors: Hagerman Randi J. , Synhorst David P. , Opitz John M. 
Published: June 2005

AbstractFour patients with the fragile X syndrome including 3 males and one woman, were evaluated for cardiological abnormalities. One patient had an obvious murmur. All 4 were shown to have mitral valve prolapse by echocardiography. Two male patients also demonstrated mild dilatation of the ascending aorta. We recommend thorough cardiological evaluations of all fragile X patients.
Restudy of the original marker X family
Authors: Lubs Herbert A. , Watson Michael , Breg Roy , Lujan Enrique , Opitz John M. 
Published: June 2005

AbstractRestudy of the original marker‐X family confirmed recent observations that this XLMR disorder is associated with large testes and slightly abnormal ears. However, other aspects of the phenotype were variable and a distinct facies was not evident. Significant differences in marker‐X frequency between two laboratories processing the same samples were observed. Possibly, the combination of more cells and a longer culture time in one laboratory led to a greater depletion of critical nutrients and a higher frequency of the marker‐X, but additional studies are needed. No evidence was found of a diminishing frequency of the marker‐X over a 15 year period.
Experience with prenatal fragile X detection
Authors: Jenkins Edmund C. , Brown W. Ted , Brooks Judith , Duncan Charlotte J. , Rudelli Raul D. , Wisniewski Henry M. , Opitz John M. 
Published: June 2005

AbstractWe have attempted the prenatal detection of the fra(X) 9 times. Three fra(X) positive fetuses have been diagnosed: 2 males and one female. The diagnosis on the 2 males has been confirmed. The testes of the 2 fra(X) positive fetuses appeared large for gestational age. However, results of anthropometric, bone age, anatomical and neurohistological studies were normal. Normal outcome was confirmed after birth in 2 males and one female on the basis of whole blood fra(X) studies. A presumptively positive female and a presumptively negative males remain unborn. Further presumptively negative males remain unborn. Further experience is needed to establish the reliability of the prenatal detection of fra(X)(q27).
The fragile‐X syndrome, IV. Progress towards the identification of linked restriction fragment length variants (RFLVs)
Authors: Holden Jeanette J. A. , Wang Hungshu , White Bradley N. , Opitz John M. 
Published: June 2005

AbstractWe present our strategy and progress towards the identification of rare restriction fragment length variants (RFLVs) segregating with the fragile‐X syndrome. DNA from a carrier mother and two retarded sons was digested with 7 restriction endonucleases and Southern blots were probed with cloned unique X‐chromosomal sequences. Two of 17 cloned segments tested revealed RFLVs between the X‐chromosomes of the carrier mother. One of them detected variants using Pvu II and Msp I. The Pvu II and Msp I alleles found on the X‐chromosome bearing the fragile‐X mutation were not found in 31 and 22 random X‐chromosomes, respectively. The other probe detected variants using Pvu II and Taq I. The Taq I allele present on the X‐chromosome with the fragile‐X mutation was found in 23 out of 25 random X‐chromosomes, while the Pvu II allele was not found in 21 random X‐chromosomes. One of these probes and two other cloned unique X‐chromosome sequences were localized distal to Xq26 by in situ hybridization to prometaphase chromosomes and by probing Southern blots containing DNA from a deleted X‐chromosome. These are being used for linkage analysis in an extended family.
Folate metabolism in humans
Authors: Erbe Richard W. , Wang Jin‐Chen C. , Opitz John M. 
Published: June 2005

AbstractSeveral lines of evidence have linked flate metabolism to the expression of the fragile site at Xq27. Sutherland (1979) observed that expression of this marker depends on the composition of the culture medium and that deficiency of folic acid and thymidine promotes expression of the fragile site in lumphocytes, as does the addition of methotrexate. Several investigators (Glover, 1981; Tommerup et al, 1981) independently showed that expression of the fragile site can be elicited by adding 5‐fluorodexyuridine, an inhibitor of thymidylate synthase to culture medium containing folic acid but not thymidine. Indeed, Lejeune (1981) has claimed sucessful treatment of males with fragile X syndrome, the administration of folic acid and folinic acid (5‐formyltetrahydrofolate) leading to decreased expression of the Xq27 fragile site and greatly reduced aggressiveness. These and other studies have stimulated persons of diverse backgrounds to ocnfront complicated aspects of folate metabolism. The information that follows is intended to facilitate discusion and investigation in the context of the fragile X syndrome.The history of folic acid can be said t date from the description by Channing in 1842 of severe, rapidly progressive and sometimes fatal anemia of pregnancy. In a series of studies begun in 1930, Lucy Wills observed that the diets of mothers of premature infants in India were usually markedly deficient in a vitamin that later proved ot be folic acid. Folic acid was first isolated and specifically maned in 1941 by investigators who prepared it from spinach leaves. It was first synthesized in 1946 and given the chemical designation pteroylglutamic acid. Syntheitic folic acid is now prepard in commercial quantities but is an unnatural substance. Biologically active folates are derivatives of tetrahydrofolate (THF) shown in Fig. 1. The has three major components, namely, the pteridine ring, the p‐aminobenzoate protion and an L‐glutamyl residue. The similarity of the sulfonamides ot the aminobenzoate protion of THF is the basis for the lethal effects sulfonamides have on microorganinsms, this treatment interfering with synthesis of folates. THF is the parent compound of all biologically active folates and is simply folic acid reduced on the pteridine ring at positons 5,6, 7 and 8 (Fig. 1). Two protions of the THF molecule are especially important to its functions. The nitrogen atoms at positions 5 or 10 or both carry the substituents that make up the one‐carbon pool. Of these compounds, 5‐methylTHF is the main serum and tissue form of folate, while, in most tissues, there are in addition lesser amounts of 10‐formylTHF and still smaller amounts of 5,10‐methyleneTHF, THF itself and other folate compounds. Very few of these folates are stable enough to be useful under clinical and cell folinic acid or leucovorin. This stable folate can be prepared in large quantities and can be given t patients orally or parenterally.
A new X‐linked syndrome comprising progressive basal ganglion dysfunction, mental and growth retardation, external ophthalmoplegia, postnatal microcephaly and deafness
Authors: Schimke R. Neil , Horton William A. , Collins Debra L. , Therou Leona , Opitz John M. 
Published: June 2005

AbstractWe report on 4 boys (3 in one family) who have a remarkably constant syndrome of childhood‐onset choreoathetosis with later spasticity, postnatal microcephaly, growth and mental retardation, apparent external opthalmoplegia and varying degrees of deafness. The pedigrees are consistent with X‐linked inheritance. The syndrome is compared and contrasted with others comprising basal ganglion dysfunction in childhood. It is concluded that clinically and genetically the condition is unique.
The Tel Hashomer camptodactyly syndrome in a consanguineous Brazilian family
Authors: Gollop T. R. , Colletto G. M. D. D. , Opitz John M. 
Published: June 2005

AbstractWe report on two Brazilian sibs whose parents are first cousins with clinical findings of the Tel Hashomer camptodactyly syndrome, namely, camptodactyly, muscle hypoplasia, skeletal abnormalities, and abnormal palmar creases. Both affected sibs have flat orbital roofs not described in previous cases and a high number of dermatoglyphic arches. The patient's father had camptodactyly of the fifth fingers, possibly a heterozygote manifestation.
A mild autosomal recessive form of osteopetrosis
Authors: Kahler Stephen G. , Burns Jane A. , Aylsworth Arthur S. , Opitz John M. 
Published: June 2005

AbstractWe report on four individuals in one kindred with relative or absolute short stature: increased upper/lower segment ratio with decreased arm span; mandibular prognathism and dental abnormalities; fractures following minimal trauma; mild to moderate anemia with extramedullary hematopoiesis; and radiographic changes of osteopetrosis, including sclerosis of the cranial base, generally increased bone density, sclerosis of the vertebral end plates, and transverse bands and poor diaphyseal modelling of the long bones. There is intrafamilial variability of clinical and radiographic findings in individuals with this mild, autosomal recessive form of osteopetrosis. We summarize ten families from the literature, which include 18 cases of mild recessive osteopetrosis. The manifestations of many are similar to those of the individuals reported here.Two other types of recessive osteopetrosis have been reported previously: osteopetrosis associated with renal tubular acidosis, and severe osteopetrosis with hepatosplenomegaly, pancytopenia, and early death. Autosomal dominant osteopetrosis is variable but usually mild. Pedigree analysis is currently the only reliable method of determining the patternof inheritance in mild osteopetrosis.
Heterogeneity of prenatal onset hydrocephalus: Management and counseling implications
Authors: Williamson Roger A. , Schauberger Charles W. , Varner Michael W. , Aschenbrener Carol A. , Opitz John M. 
Published: June 2005

AbstractWe have evaluated 30 cases of congenital hydrocephalus, most with a presumed early prenatal onset. The ten cases delivered in 1982 were studied prospectively. In 18 of the 25 nonsurvivors, no cause was apparent and many had multiple anomalies. The heterogeneity seen in this series is discussed in relation to intrauterine treatment.
In utero brain destruction resulting in collapse of the fetal skull, microcephaly, scalp rugae, and neurologic impairment: The fetal brain disruption sequence
Authors: Russell Laura J. , Weaver David D. , Bull Marilyn J. , Weinbaum Marc , Opitz John M. 
Published: June 2005

AbstractThree infants are reported with a recognizable pattern of defects consisting of severe microcephaly, overlapping sutures, prominence of the occipital bone, and scalp rugae. This condition, which we think represents microhydranencephaly, appears to be produced by partial brain destruction during the second or third trimester, diminution in intracranial hydrostatic pressure, and subsequent collapse of the fetal skull. Several different causes for this condition have been suggested including partial disruption of the blood supply to the brain and prenatal viral infection.
Aarskog syndrome: Full male and female expression associated with an X‐autosome translocation
Authors: Bawle E. , Tyrkus M. , Lipman S. , Bozimowski D. , Opitz John M. 
Published: June 2005

AbstractWe describe a male infant with the Aarskog syndrome and his equally prominently affected mother. The propositus and his mother have a balanced X‐autosome translocation which originated in her. We postulate that the mother's translocation resulted in a presumed de novo point mutation for the Aarskog locus and that she has nonrandom inactivation of her structurally normal X. The full expression of the syndrome in the mother is compared to the partial expression in reported females. It is concluded that the Aarskog syndrome is an X‐linked disorder and that the locus for the syndrome is at Xq13.
Interstitial del(13q) associated with blindness and mental retardation
Authors: Juberg Richard C. , Mowrey Philip N. , Opitz John M. 
Published: June 2005

AbstractBlindness due to congenital falciform retinal folds and severe mental retardation were present in a male with an interstitial deletion, 46,XY, del(13) (q31.2q32.3).
Cytogenetic findings in 318 couples with repeated spontaneous abortion: A review of experience in British Columbia
Authors: Pantzar J. Tapio , Allanson Judith E. , Kalousek Dagmar K. , Poland Betty J. 
Published: June 2005

AbstractWe studied G‐banded chromosome complements on 318 couples with 2 or more spontaneous abortions. Seven chromosome abnormalities were detected. Three women and one man were identified as carriers of balanced Robertsonian translocations, t(13;14), t(13;14), t(13;21), and t(14;22), respectively. Aneuploidy: 47,XXX; 47,XX, +marker; and 45,X/46,XX/47,XXX were found in the other 3 women. The overall aberration frequency was 2.2% of couples. When a stringent criterion of ≥ 3 consecutive spontaneous abortions was used, the frequency was 4.2%. In this series no chromosome aberrations were identified in couples with 2 spontaneous abortions and a live‐born child with congenital anomalies; 1 of 22 couples with 2 spontaneous abortions and a still‐born infant showed a chromosomal abnormality. Findings from the recent literature are compared with those from this study.