bluuebunny/crossref_metadata_2025_split huggingface dataset:
Origin of a paternal (13q; 15q) translocation leading to dup(13q) in two half sibs
Authors: De Los Cobos Luis F. , Opitz John M. 
Published: June 2005

AbstractWe report on two half‐sibs, a male and a female with dup(13)(q1405 → qter) that resulted from a der(15),t(13;15)(15qter → 15q25::13q1405 → 13qter), h +, pat. Their manifestations were similar to those with duplication of the distal half 13q. The father was a balanced de novo translocation carrier. Since the der(15) had a long secondary constriction, it was possible to trace the site of the mutation to the germ cell of the patients paternal grandmother who had this distinctive long secondary constriction in one of her normal 15 chromosomes.
Congenital heart anomalies in the trisomy 18 syndrome, with reference to congenital polyvalvular disease
Authors: Matsuoka Rumiko , Misugi Kazuaki , Goto Akiko , Gilbert Enid F. , Ando Masahiko , Opitz John M. 
Published: June 2005

AbstractCongenital polyvalvular disease (CPVD) is seen in trisorny 18 and other aneuploidy syndromes. However, its extent and nature have not been studied. Gross pathologic and histologic aspects of the heart were studied in 15 autopsied cases of trisomy 18. All had CPVD; other congenital defects included membranous ventricular septal defect (87%), patent ductus arteriosus (73%), and high takeoff of the right coronary ostium (80%). With a scoring system, histologic findings of the valves of all trisomy 18 cases were compared with those of 30 normal hearts of comparable age in order to determine the degree of morphologic abnormality. This included the presence of blood cysts, derangement of the spongiosa and fibrosa, vascular degeneration of the spongiosa, and defective elastic fibers. There were distinct differences between the changes seen in CPVD with trisomy 18 syndrome and those seen in the normal individuals. The most severe changes were present in the tricuspid and mitral valves with derangement of the spongiosa and fibrosa and defective elastic fibers. The valve tissue had a similar histologic appearance and structure to that of low birth weight infants (gestational age, 25 weeks). The valvular changes observed therefore are of fetal type and represent errors in tissue differentiation occurring as last as the third trimester.
Fragile (X) X‐linked mental retardation I: Relationship between age and intelligence and the frequency of expression of fragil (X)(q28)
Authors: Chudley Albert E. , Knoll Joan , Gerrard John W. , Shepel Lawrence , McGahey Ellen , Anderson Jo , Opitz John M. 
Published: June 2005

AbstractMembers of eight Saskatchewan families with fragile (X) X‐linked mental retardation were studied in an attempt to relate frequency to age and intelligence. The mean IQ of 37 affected men was 35 (range 10–66). The mean IQ of 32 carriers was 88 (range 57–119), and the mean IQ of 13 females who remain at risk for being carriers, have no affected sons, and who failed to demonstrate the fra(X) was 100 (range 78–126). We demonstrated a significant inverse relationship between age and frequency of the fra(X) in carriers and in affected males. However, we demonstrated a more highly significant inverse relationship between frequency of the fra(X) and IQ in carriers but to a lesser extent in affected males. Of 32 carriers, only 3 (9.4%) did not demonstrate the fra(X) after addition of 5‐fluoro‐2′‐deoxyuridine (FUdR) to the folic acid and thymidine‐reduced culture medium.From these data we would recommend that chromosome studies in individuals at risk for fra(X) X‐linked mental retardation be carried out at the youngest age and that the addition of FUdR to culture medium is useful in carrier identification. It is clear that, in at least the carriers, a lower expression of the fra(X) is highly significantly correlated to higher intelligence.
Panostotic fibrous dysplasia: A congenital disorder of bone with unusual facial appearance, bone fragility, hyperphosphatasemia, and hypophosphatemia
Authors: Cole David E. C. , Fraser F. Clarke , Glorieux Francis H. , Jequier Sigrid , Marie Pierre J. , Reade Theresa M. , Scriver Charles R. , Opitz John M. 
Published: June 2005

AbstractWe report a boy with unusual facial appearance, melanotic patches (“coast‐of‐Maine” type), myelofibrosis, recurrent femoral fractures, and widespread fibrous dysplasia of bone. Biochemical findings included raised serum alkaline phosphatase (bone isozyme) and 1,25‐(OH)2 vitamin D, and low serum phosphorus levels. Elevated urinary excretion rates of total hydroxyproline, glycylproline, and γ‐carboxyglutamic acid indicated increased turnover of bone matrix. Transiliac bone biopsy showed a dearth of marrow elements, greatly increased bone turnover, and absence of normal trabecular organization. Serial radiographs showed progressive cortical thinning and loss of bony trabeculae. Calcitonin and etidronate treatments had no lasting effect on the progressive bone disease. The term “panostotic fibrous dysplasia” is suggested for this condition.
Two children with de novo del(9p)
Authors: Young Robert S. , Bader Patricia , Palmer Catherine G. , Kaler Stephen G. , Hodes M. E. , Opitz John M. 
Published: June 2005

AbstractWe describe two patients with characteristic manifestations of the del(9p) syndrome. Among the prominent manifestation are moderate mental retardation, trigonocephaly, flat nasal bridge, anteverted nostrils, long philtrum, square and hyperconvex nails, and apparently long digits. The metacarpophalangeal pattern profiles of the patients showed that the clinical impresion of long fingers may be due to relative shortness of the metacarpals rather than to elongation of the phalanges.
Brachymesomelia‐renal syndrome
Authors: Langer Leonard O. , Nishino Rikio , Yamaguchi Atsuko , Ito Yoshimoto , Ueke Tsuyoshi , Togari Hajime , Kato Toshiyuki , Opitz John M. , Gilbert Enid F. , Maroteaux Pierre , Spranger Jürgen 
Published: June 2005

AbstractWe have studied a male Japanese infant with severe upper limb brachymesomelia, glomerulocystic renal dysplasia, abnormalities of the cranium and face, corneal opacities, and a possible congenital heart defect. He was born at term and died on the 10th day of heart and kidney failure. Review of the literature failed to show a similar case.Glomerulocystic renal dysplasia has been reported in association with a variety of the nonskeletal malformations but has not previously been described in association with bony malformations.
Segregation of HLA in families with oral clefts: Evidence against linkage between isolated cleft palate and HLA
Authors: Van Dyke Don C. , Goldman Allen S. , Spielman Richard S. , Zmijewski Chester M. , Opitz John M. 
Published: June 2005

AbstractIn an earlier study of amilies with two or more sibs affected with a cleft of the lip with or without clefts of the palate, we found no evidence for close linkage of HLA with this malformation. In the present study, we confime our attention to isolated cleft palate, an entity that is genetically distinct from clet palate associated with cleft lip. In 15 sibships with two or more effected sibs, cleft palate, and parental HLA haplotypes assorted independently in the affected sibs, providing evidence against close linkage of this phenotype.
Chromosome abnormalities in infants with prune belly anomaly: Association with trisomy 18
Authors: Frydman Moshe , Magenis R. Ellen , Mohandas T. K. , Kaback Michael M. , Opitz John M. 
Published: June 2005

AbstractTwo infants are described with “prune belly anomaly” (PBA) and concomitant trisomy 18. Severe abdominal distention was detected prenatally in one by ultrasonographic study, and in the second child at birth. Other chromosome abnormalities previously associated with PBA also are reviewed. The prune belly anomaly constitutes a malformation sequence that is causally nonspecific and which may occur in diverse aneuploidy syndromes. Aneuploidy is important to detect in prenatally diagnosed cases in which intrauterine fetal treatment is being considered.
A genetic study of hyper‐alpha‐lipoproteinemia
Authors: Rao D. C. , Lalouel J. M. , Suarez B. K. , Schonfeld G. , Glueck C. J. , Siervogel R. M. , Opitz John M. 
Published: June 2005

AbstractBecause of its association with longevity and reduced incidence of coronary heart disease, it becomes important to find out how elevated HDL‐cholesterol levels are determined. Analyses of family data from Cincinnati initially suggested environmental factors common to sibs; however, some form of dominant inheritance could not be ruled out. Reanalysis of the Cincinnati data by Iselius and Lalouel concluded against a major locus, but did identify three families as possibly segregating for a major locus. Analysis of an additional 26 kindreds from the same population in Cincinnati by Siervogel and associates concluded that a major gene could be causing familial aggregation of high density lipoprotein in white kindreds. In this analysis, we pooled all the white Cincinnati kindreds (n = 31), and investigated the familial transmission using complex segregation analysis. We failed to obtain clear evidence for major locus determination. Under the parsimonious hypothesis of no major locus, the polygenic heritability and common sibling environmental correlation were estimated as 0.531 and 0.263, respectively, consistent with other evidence.
Hemifacial microsomia and variants: Pedigree data
Authors: Rollnick Beverly R. , Kaye Celia I. , Opitz John M. 
Published: June 2005

AbstractEar malformations occur per se or together with other congenital anomalies. Many syndromes with ear malformations have been described. We have studied propositi with hemifacial microsomia (HFM) or Goldenhar syndrome (GS), also called oculoauriculovertebral “dysplasia” (OAV). In addition to ear malformations some individuals may have a small and/or malformed mandible, epibulbar, or conjunctival lipodermoids and anomalies of the cervical spine. Other malformations may also be seen. At present, the cause of these disorders is unclear.Here we present pedigree data on 97 propositi, 44 of whom had a family history of the same or similar anomaly. First‐degree relatives were most often affected (35/433, 8%). Of 176 sibs tabulated, 11 (6%) were considered affected. The pattern of occurrence in many families suggested multifactorial determination, although other interpretations are possible. The occurrence of differing anomalies within a family suggests that the disorders constitute a single entity. The most frequent anomaly was a mild ear malformation (preauricular node or tag). This suggests a broad phenotypic spectrum. These data are useful for purposes of genetic counseling.
Acrofacial dysostosis (Nager syndrome): Synopsis and report of a new case
Authors: Pfeiffer R. A. , Stoess H. , Opitz John M. 
Published: June 2005

AbstractAcrofacial dysostosis is noted in a stillborn female with mandibulofacial abnormality without cleft palate and with bilateral radial hemimelia, duplication of the left great toe, and aplasia of the right kidney. Synopsis of the published cases shows that the various degrees of mandibulofacial dysostosis frequently characterized by cleft palate and atresia of the auditory meatus are not closely correlated with the malformation of the upper limb. Formal genetics are unknown.
Risk of down syndrome among second‐ and third‐degree relatives of a proband with trisomy 21
Authors: Tamaren Janet , Spuhler Karen , Sujansky Eva 
Published: June 2005

AbstractPrevious studies indicate that parents who have had one child with trisomy 21 have an increased risk of having another affected child. To establish whether sibs, aunts, uncles, and cousins of an index case with trisomy 21 are also at increased risk for having an affected child, 219 kindreds of trisomy 21 probands were surveyed and compared with a control group of 247 kindreds. Control kindreds were ascertained through a child with a nonchromosomal disorder. Empiric risks were obtained and a risk interval calculated for each type of relationship. The results of this study suggest that for most families who have had a child with trisomy 21, the risk to second‐ and third‐degree relatives is increased somewhat but still low (less than 1 %). Analysis of those rare families who present with one or more affected second‐ or third‐degree relative with trisomy 21 in addition to the proband suggests that they represent a small subpopulation with a markedly increased risk. Sibs and second‐degree relatives in such families should be offered the option of amniocentesis, regardless of maternal age.
The syndrome of anosmia with hypogonadotropic hypogonadism: A genetic study of 18 new families and a review
Authors: White Beverly J. , Rogol Alan D. , Brown Kenneth S. , Lieblich Jeffrey M. , Rosen Saul W. , Opitz John M. 
Published: June 2005

AbstractAmong 18 NIH probands with anosmia and hypogonadotropic hypogonadism (AHH), seven had affected relatives and three had consanguineous parents. Both sexes were equally affected and parents were phenotypically normal. Parental age was not increased. Cleft lip and palate occurred in both eugonadal and hypogonadal persons, a previously reported association that may represent variable expression of AHH. Diabetes mellitus, usually insulin‐dependent, was frequent in probands and their families. Other common traits included obesity, cryptorchidism, and hearing loss. All probands were chromosomally normal. The frequency of some dermatoglyphic traits of probands differed from normal, but no trait was unique to AHH.Segregation analysis of our proband sibships was consistent with a hypothesis of autosomal‐recessive inheritance with variable expression. However, genetic heterogenety was apparent when previous reports of familial AHH were surveyed. An X‐linked or male sex‐limited autosomal‐dominant form with unilateral renal agenesis, mental retardation, and hypotelorism has been observed. The infrequent reports of direct male‐to‐male transmissionn limit characterization of an autosomal‐dominant form of AHH.Our phenotypic analysis suggests that the traits of mental retardation, renal anomalies, hypotelorism, diabetes, and hearing loss may help to distinguish various forms of AHH, whereas cryptorchidism, clefts, and obesity appear in several types of families. At present, genetic counseling is dependent upon establishing inheritance pattern after examination for the known associated anomalies.
A convenient method for measuring receptor‐cyclase coupling activity in whole blood: Application to Duchenne muscular dystrophy
Authors: Bourne Henry R. , Steinberg Florence , Golbus Mitchell S. , Farfel Zvi , Opitz John M. 
Published: June 2005

AbstractActivity of the guanine nucleotide‐binding regulatory (N protein) component of adenylate cyclase can be measured in extracts of whole blood, using a modification of an assay previously applied to erythrocyte membranes. N protein activities in the blood of three patients with Duchenne muscular dystrophy and eight heterozygous carriers of the disease did not differ significantly from activities measured in blood of seven normal subjects. In contrast, the modified assay showed a 50% deficiency of N protein activity in blood of four patients with pseudohypoparathyroidism, type I, in whom erythrocyte studies had previously demonstrated a comparable degree of N deficiency.
Ruvalcaba‐myhre‐Smith syndrome: A case with probable autosomal‐dominant inheritance and additional manifestations
Authors: Diliberti John H. , Weleber Richard G. , Budden Sarojini , Opitz John M. 
Published: June 2005

AbstractWe report on a 7 1/2‐year‐old boy with macrocephaly, hamartomatous intestinal polyps, and café‐au‐lait spots on the penis. These abnormalities were reported in two other individuals thought to have the Sotos syndrome. We think that this triad of abnormalities represents a new disorder, the Ruvalcaba‐Myhre‐Smith syndrome. Prominent Schwalbe lines, prominent corneal nerves, and lipid storage myopathy also appear to be part of the syndrome. Macrocephaly, similar facial appearance, and a hamartomatous polyp in the mother suggest dominant inheritance.
Ullrich‐turner syndrome in monozygotic twins
Authors: Al‐Awadi S. A. , Cuschieri A. , Farag T. I. , Naguib K. , Teebi A. S. , Al‐Othman S. A. , Bahig A. H. 
Published: June 2005

AbstractWe report on the Ullrich‐Turner syndrome in monozygotic twin sisters. The first twin had the syndrome with a 45,X chromosome constitution. The second twin had only minor manifestations of the syndrome with 46,XX/45,X mosaicism.The literature on the Ullrich‐Turner syndrome in twins is reviewed.
Occurrence of neural tube defects among first‐, second‐, and third‐degree relatives of probands: Results of a United States study
Authors: Toriello Helga V. , Higgins James V. , Opitz John M. 
Published: June 2005

AbstractData on the occurrence of neural tube defects in first‐, second‐, and third‐degree relatives of probands were collected in a United States study. The proportions of affected individuals were 3.2%, 0.5%, and 0.17% respectively. These findings are compared to those from other recent North American studies, and differences are discussed. It is pointed out that accurate recurrence risk figures may not be available, and that caution should be used when counseling families with relatives who are affected with NTD.
On the nature of folic‐acid‐sensitive fragile sites in human chromosomes: An hypothesis
Authors: Krumdieck Carlos L. , Howard‐Peebles Patricia N. , Opitz John M. 
Published: June 2005

AbstractThe methyl groups of thymine and 5‐methylcytosine exposed along the major groove of the DNA double helix are involved in the binding of specific proteins to specific DNA regions. It is hypothesized that folate‐sensitive fragile sites on chromosomes appear as a result of heritable defects of DNA methylation along a region normally binding a folding protein involved in chromosome condensation. Impairment of DNA‐folding‐protein interaction would result. A superimposed folate deficiency, or any condition leading to impaired thymidylate biosynthesis, would promote misincorporation into DNA of uracil in place of thymine, thus producing a further loss of methyl groups at the fragile site and eventually precluding a full DNA‐folding‐protein interaction. A localized collapse of the chromosome structure would follow.
Possible new autosomal recessive syndrome with unusual renal histopathological changes
Authors: Allanson Judith E. , Pantzar J. T. , Macleod P. M. 
Published: June 2005

AbstractWe report a couple with repeated pregnancy loss—two spontaneous first trimester abortions and two stillbirths with diffuse hypoplasia of the renal tubules. Both parents have been investigated to exclude occult unilateral renal agenesis. We raise the possibility that this is a new autosomal recessive condition.
Carrier detection in Hunter syndrome
Authors: Archer Irene M. , Young Ian D. , Rees Derek W. , Oladimeji Adebayo , Wusteman Frederick S. , Harper Peter S. 
Published: June 2005

AbstractWe have studied the carrier state of the Hunter syndrome using a series of obligate carriers, females at high genetics risk, and normal control women. Specific odds of a female being a carrier of Hunter syndrome were based on serum levels of iduronate 2‐sulphate sulphatase activity. These, together with the prior genetic odds, may be used in calculating the overall odds of a woman being a carrier. Iduronate 2‐sulphate sulphatase levels were found to increase significantly with age. Obligate carriers from families of severe cases had significantly lower enzyme levels compared with those from families of mild cases. In contrast, enzyme levels in sera of mild and severe cases were not significantly different. With the accumulation of more data the effect of age of the potential carrier and the severity of the disease may have to be taken into consideration in the risk calculation.Hair‐root analysis was more reliable in the detection of carriers than estimation of serum enzyme levels, but some individuals could not be classified with confidence by hair‐root analysis alone. Carrier detection was most reliable when hair‐root analysis and serum enzyme levels were taken together.
Segregation of chromosomes into the spermatozoa of a man heterozygous for a 14;21 Robertsonian translocation
Authors: Balkan Wayne , Martin Renée H. , Opitz John M. 
Published: June 2005

AbstractTwenty‐four spermatozoa from a man heterozygous for a Robertsonian translocation (45,XY,‐14,‐21,+t(14q;21q) were studied cytogenetically in order to determine the meiotic segregation of the translocation. When compared to the expected 1:1 ratio we observed a greater number of chromosomally normal sperm than sperm with the balanced translocation. Three sperm carried the translocation in an unbalanced form.
The genetics of quantitative plasma Lp(a): Analysis of a large pedigree
Authors: Hasstedt Sandra J. , Wilson Dana E. , Edwards Corwin Q. , Cannon Wayne N. , Carmelli Dorit , Williams Roger R. , Opitz John M. 
Published: June 2005

AbstractLikelihood analysis using the mixed model of quantitative plasma Lp(a) measurements on members of a large pedigree provided evidence that high levels of Lp(a) are inherited as a dominant major gene with polygenic background. The dominant allele frequency was estimated as 0.10. The major gene and polygenic components together accounted for 95% of the variation seen in the measurements. The major gene index and OBP plots, methods that do not allow for the presence of both components, favored the polygenic model over the major gene model as the mode of inheritance. No association was found with any of the lipids, lipoproteins or apolipoproteins considered.
Brachyolmia, recessive type (Hobaek): A clinical, radiographic, and histochemical study
Authors: Horton William A. , Langer Leonard O. , Collins Debra L. , Dwyer Carmen 
Published: June 2005

AbstractBrachyolmia recessive type (Hobaek) is a rare bone dysplasia characterized by short trunk dwarfism that becomes evident during childhood. The radiographic manifestations are primarily limited to the spine, and consist of universal platyspondyly with lateral extension of the vertebral bodies beyond the pedicles and irregularity of the vertebral end plates. Histologic changes seen on growth plate biopsy permit the diagnosis to be confirmed. The inheritance pattern appears to be autosomal‐recessive.
Perrault's syndrome in two sisters
Authors: Bösze Péter , Skripeczky Katalin , Gaśl Magdolna , Tóth András , László János , Opitz John M. 
Published: June 2005

AbstractWe report on two sisters with Perrault's syndrome, i.e., autosomal recessive ovarian dysgenesis associated with sensorineural deafness. They were deaf‐mute and to normal height with a few minor somatic anomalies. Both had streak gonads and an apparently normal female 46,XX chromosome constitution. The parents were apparently not consanguineous. The mother had normal hearing. Other relatives were not available for study. Epilepsy, Which occurred in three relatives including one of the index patients, may have been inherited coincidentally from the mother's family.