bluuebunny/crossref_metadata_2025_split huggingface dataset:
Discriminant analysis of ribosomal protein synthesis findings in carrier detection of duchenne muscular dystrophy
Authors: Ionasescu V. , Burmeister L. , Hanson J. 
Published: June 2005

AbstractPrevious studies have shown that in vitro muscle ribosomal protein synthesis (RPS) by monomeric ribosomes (MR) and total polyribosomes (TPR) and collagen synthesis (CS) are significantly increased (P < 0.01) in 47 known carriers of Duchenne muscular dystrophy as compared to 60 age‐matched controls. However, there was considerable overlap of the distribution of controls and carriers, particularly for monomeric ribosomal protein synthesis and collagen synthesis. To improve detection of carriers we used discriminant analysis utilizing logs of each measurement as superior to a univariate or bivariate scheme. This study considered four groups: proven carriers (30) (group 1), presumptive carriers (female relatives of Duchenne patients with high serum creatine kinase (CK) levels) (32) (group 2), controls ≥ 20 years old (42) (group 3) and controls < 20 years (36) (group 4).

Comparison of groups
Misclassification (%)

1 versus 3
1.4

1 versus 3 and 4
0.9

2 versus 4
4.4

2 versus 3 and 4
1.8

1 and 2 versus 3 and 4
2.9

These results suggest that discriminant analysis reduces the misclassification rates as compared with univariate or bivariate analysis and confirm the superiority of RPS measurements as a carrier test for Duchenne muscular dystrophy.
Malignant melanoma and charcot‐marie‐tooth disease
Authors: Greene Mark H. , Mead Gene D. , Reimer Ronald R. , Bergfeld Wilma F. , Fraumeni Joseph F. 
Published: June 2005

AbstractTwo patients with Charco‐Marie‐Tooth disease subsequently developed cutaneous malignant melanoma. This constellation of diseases may be due to chance, but raises the possibility of a shared neural crest defect or genetic linkage.
Female pseudohermaphroditism and associated anomalies
Authors: Lubinsky Mark S. , Opitz John M. 
Published: June 2005

AbstractA patient was observed with female pseudohermaphroditism (FPH) and the “Prune Belly Syndrome” (PBS) – abdominal muscle hypoplasia and urinary tract abnormalities – findings seen in three previously reported cases. A review of cases of FPH with additional anomalies suggests a spectrum of primary, and possibly derived, malformations with Prune Belly Syndrome at one extreme.These findings can best be understood as disturbance of a specific embryological developmental field of which FPH is a marker, although not an invariable expression. The field includes anorectal, urogenital, sacral‐spinal, and ventral wall structures. FPH is a rare manifestation, and the cases reviewed suggest that it can appear as a developmental anomaly without apparent hormonal trigger.Malformations of this field are understandable on the basis of a multifactorial model, with male sex as a predisposing factor. The caudal defects of the cryptophthalmos syndrome offer a paradigm for a spectrum of field anomalies.
Kniest dysplasia: Neonatal death with necropsy
Authors: Chen Harold , Yang S. Samuel , Gonzalez Enrique , Opitz John M. 
Published: June 2005

AbstractWe describe a premature female infant with Kniest dysplasia, who died shortly after birth. This appears to be the first autopsy performed in this condition. Manifestations included neonatal respiratory distress, large head, midface hypoplasia, flat nasal bridge, short nose, micrognathia, cleft palate, short neck, micromelia, and mildly bowed limbs. Roentgenologic findings included short, slightly bowed tubular bones with metaphyseal flare; mild platyspondyly, with vertical clefts of vertebral bodies; small iliac bones with increased acetabular angles; and inadequate ossification of pubic rami. Histopathologic findings of cartilage included focal “Swiss‐cheese” pattern; disorganized physeal growth zone; and PAS‐positive, diastase‐resistant intracytoplasmic inclusions, which corresponded to finely granular material accumulated in dilated cisterns of rough endoplasmic reticulum.
Discriminating among single locus models using small pedigrees
Authors: Beaty T. H. , Murphy Edmond A. 
Published: June 2005

AbstractSimulated small pedigrees (2 parents, 4 offspring) were used to illustrate the applications and limitations of a “model choice” approach designed to detect genetic heterogeneity in familial diseases. While it is possible to identify groups of pedigrees which have different genetic causes for quantitative phenotypic trait(s), theoretical limitations on discriminating between 4 single locus models exist for certain pedigree structures. These limitations originate from the overlapping phenotypic predictions of the various genetic models. Such limitations must be carefully considered in the design of genetic studies. Studies aimed at detecting genetic heterogeneity in familial diseases should limit the different genetic models being considered and tailor the sampling strategy to avoid collecting pedigrees which are non‐informative for certain comparisons.
Short rib‐polydactyly syndrome, type 3 with chondrocytic inclusions: Report of a case and review of the literature
Authors: Yang S. Samuel , Lin Ching‐Shen , Al Saadi A. , Nangia Bhim Sen , Bernstein Jay , Herrmann Jürgen 
Published: June 2005

AbstractA newborn with severely shortened ribs, short limbs, and postaxial polydactyly died shortly after birth. Postmortem roentgenograms established the diagnosis of type 3 short rib‐polydactyly (SRP) syndrome as described by Naumoff and associates. Histopathologic study showed the chondrocytes to contain previously undescribed cytoplasmic inclusion bodies that were PAS‐positive and diastase‐resistant. The material appeared by staining reactions to be a glycoprotein that was seen electron microscopically to accumulate within dilated cisterns of rough endoplasmic reticulum. Similar cytoplasmic inclusions have not been seen in other short rib‐polydactyly syndromes, including SRP types 1 and 2, Jeune syndrome, and Ellis‐van Creveld syndrome. It is often difficult to differentiate cases of type 3 and type 1 (Saldino‐Noonan) syndrome, and in the past the diagnosis has sometimes been confused. A review of previously reported cases showed that type 3 syndrome rarely (1 in 13) had cloacal developmental abnormalities, which are invariably present in patients with type 1 syndrome. Type 3 is also associated with a lower incidence of congenital heart disease, and cardiac malformations, when present, differ from those associated with type 1 syndrome. Both type 3 and type 1 SRP syndromes are transmitted in autosomal recessive fashion. Type 3 SRP syndrome has had an equal sex distribution, although type 1 has so far been reported to occur only in girls. Further investigation with additional patients is necessary to verify the above preliminary findings.
Human chromosome heteromorphisms in American blacks: II. Higher incidence of pericentric inversions of secondary constriction regions (h)
Authors: Verma Ram S. , Rodriguez Jorge , Dosik Harvey , Francke Uta 
Published: June 2005

AbstractEighty normal American blacks were studied by the CBG technique (C‐bands by barium hydroxide using Giemsa) for estimation of size and inversion heteromorphisms of chromosomes 1, 9, and 16, and the data were compared to those of whites using subjectively defined criteria. Size and inversion heteromorphisms were classified into 5 levels. The frequencies of size heteromorphisms of chromosomes 1 and 16 were 10.63% and 6.88%, respectively, which are not significantly different from those of a normal population of whites. A higher incidence of size heteromorphisms for chromosome 9 was noted in whites (47.5% vs 30%). The frequencies of inversion heteromorphism of chromosomes 1, 9, and 16 were 17.5%, 21.9%, and 0.0%, respectively. Overall, 61 chromosomes were found to have an inversion. Of these, 28 were in chromosome 1, and 33 were in chromosome 9. A higher incidence of inversion heteromorphisms of chromosomes 1 and 9 was noted in American blacks, while no inversions were found in chromosome 16 in either population. A significant association of increased size of the h region with inversion (r = 0.99 P < 0.01) is demonstrated, ie, enlarged h regions have a higher frequency of inversions.
Genetic polymorphisms among Iranian Jews in Israel
Authors: Cohen T. , Simhai B. , Steinberg A. G. , Levene C. , Opitz John M. 
Published: June 2005

AbstractIranian Jews represent a very ancient Jewish community with a high frequency of in breeding. A sample of Iranian Jews, mainly unrelated students, was tested for genetic markers of red blood cells and serum. The frequency of glucose‐6‐phosphate dehydrogenase deficiency was not uniform among Jews who had lived in different areas of Iran; it was lower among those from central Iran (6.7%) than in those from southern and western Iran (16.7% and 20.6%, respectively). The frequencies of B, CDe, cDE, S, and K alleles were among the highest recorded in Jewish ethnic groups. Iranian Jews were similar to Iraqi Jews with respect to the frequencies of the blood markers B, CDe, cde, cDe, ACP, PGM1 ADA, and Hp; however, the B and CDe markers occur with similar frequencies among indigenous Iranians. The presence of the cDe allele and the Gm,1,5,13,14,17 haplotype in low frequencies indicates black admixture. Mongoloid admixture is indicated by the polymorphism of the Gm1,13,15,16,17 haplotype. The very rare phenotype Gm(3,5,13,14,17) was observed in 4.8% of 167 individuals tested. This phenotype has not been previously observed among Jews.
Inherited translocation t(4;5) discovered on prenatal diagnosis
Authors: Nien‐hu Sun , Fon‐yen Wang , Jin‐xia Li , Xian‐ting Zhou , Shun Tang Huo , Omenn Gilbert S. , Opitz John M. 
Published: June 2005

AbstractWe report an apparently balanced reciprocal t(4q;5q) translocation ascertained coincidentally on amniocentesis in a phenotypically normal male fetus and found to be inherited in his mother and maternal grandmother. No banding study was available at the time of the amniocentesis, and the chromosomal status of his parents was unknown. Because of the possibility that this finding might be a de novo, unbalanced translocation, the pregnancy was terminated. Subsequently, the translocation was found to be apparently balanced, but so unequal that both unbalanced translocation products are presumed to be lethal. Thus, it is predicted that only carriers and normal individuals will be conceived and viable in this family. We are unaware of previously published observations on a similar (4q;5q) translocation.
Inheritance of Kartagener syndrome
Authors: Moreno Adolfo , Murphy Edmond A. 
Published: June 2005

AbstractThe surmised autosomal recessive inheritance of situs inversus of Kartagener syndrome is re‐examined on the hypothesis that the homozygous state replaces lateralization of the viscera in normal ontogeny by an indifferent lateralization. The segregation ratio in the progeny of two carrier parents (if there were no ascertainment bias) would then be 1/8. The estimated segregation ratio under the assumption of complete (truncate) ascertainment is 0.124.The implications for genetic counseling are discussed.
The centralized prenatal genetics screening program of New York City: I. Developmental phase
Authors: Hsu Lillian Y. F. , Karp Lawrence E. 
Published: June 2005

AbstractThe increasing demand in New York City for prenatal diagnosis of genetic disorders has necessitated the development of a large‐scale, centralized prenatal genetic screening program. The objective of this program is eventually to serve 3,000 to 4,000 at‐risk New York City pregnant women annually. Through the teamwork of a task force comprising representatives from the New York Scientists' Committee for Public Information (SCPI), the Medical and Health Research Association of New York City, Inc. (MHRA), the New York State and New York City Departments of Health, and five different advisory committees, the centralized Prenatal Diagnosis Laboratory of New York City (PDL) was designed and established. While this program aims to provide high quality, centralized laboratory service for the prenatal detection of chromosome abnormalities and open neural tube defects, it also emphasizes quality‐controlled services in genetic counseling, amniocentesis, ultrasound monitoring, obstetric care, and patient follow‐up. Genetic counseling by PDL‐employed counselors is made available to patients whenever the participating hospital lacks such service or cannot handle their patient load. In addition, PDL has launched a vigorous public health education program. A detailed guideline for the program was prepared describing the highest standards of quality for each component. The initial step was the developmental phase that included establishing the advisory committees, searching for sponsors, preparing guidelines, developing the health education program, renovating the laboratory site, purchasing and installing equipment, and recruiting of staff. The experience gained from this endeavor will be value in the development of similar large‐scale prenatal diagnosis programs.
Duplication of distal 11q and 22p occurrence in two unrelated families
Authors: Najafzadeh Touran M. , Dumars Kenneth W. , Opitz John M. 
Published: June 2005

AbstractWe report chromosome rearrangements and/or duplication of chromosomes 11 and/or 22. This investigation was prompted by propositi with multiple congenital anomalies and an apparently identical chromosome abnormality – ie, 47,+der(22)t(11;22)(q23;q11.2)mat in two unrelated families. The propositi had failure to thrive, developmental delay, cleft palate, congenital heart disease, meningomyelocele, and hydrocephaly. The breakage points identified on chromosomes 11 and 22 are site‐specific and occur in a nonrandom fashion. Band 11q23 corresponds to the gap produced in some individuals by special treatment of the chromosome preparation with mercaptoethanol and may provide a method to identify individuals at risk for chromosome breakage and rearrangements during gametogenesis.
Retinoblastoma: Mutational mosaicism or host resistance?
Authors: Matsunaga Ei , Herrmann Jürgen , Opitz John M. 
Published: June 2005

AbstractCarlson and Desnick's [1979] proposals of multiple allelism and mutational mosaicism to account for the observed variability in penetrance and expressivity in retinoblastoma do not seem to give a clear‐cut explanation for the facts that 1) a bilaterally affected patient could have an unaffected carrier child who in turn would produce bilaterally affected offspring, and 2) carriers of the retinoblastoma gene are prone tononradiogenic osteosarcoma irrespective of their phenotypes. However, these observations are readily explained by assuming that inherited host resistance plays an important role in the manifestation of a single major gene for retinoblastoma. Based on their model, Carlson and Desnick offer recurrence risk figures for genetic counseling, but their figures concerning the transmissible types of retinoblastoma do not seem more accurate, as assumed by them, than those previously estimated from the family data.We present evidence that host resistance may be regarded as a multifactorial threshold character with high heritability, and we propose that tissue‐specific genes, which we presume to be involved in normal differentiation of retinoblasts and osteoblasts, play a crucial role in malignant transformation. Two lines of suggestions are made for future studies: one, to search for polymorphic genes associated with retinoblastoma, and the other, to see whether the principle of synchronous appearance of multiple tumors in persons at high risk applies to other cancers as well.
Genetic heterogeneity of XY gonadal dysgenesis (Swyer syndrome): H‐Y antigen‐negative XY gonadal dysgenesis associated with inflammatory bowel disease
Authors: Passarge Eberhard , Wolf Ulrich , Opitz John M. 
Published: June 2005

AbstractA 16 1/2‐year‐old girl was studied because of ileitis, lack of pubertal development, and primary amenorrhea. She had a 46,XY chromosome constitution in lymphocytes in fibroblasts without structural defects of X or Y. She was H‐Y antigen negative. This observation supports the concept of causal heterogeneity of XY gonadal dysgenesis (Swyer syndrome). Two groups have been established: (1) H‐Y antigen‐positive forms, which are more common, possibly due to gonad‐specific receptor defects (total failure or reduced receptor affinity), (2) H‐Y antigen‐negative forms possibly due to mutation in the H‐Y generating system, either of the structural gene (presumably autosomal) or of a controlling gene (on the sex chromosomes). The H‐Y antigen status may be of value in determining which patients are at risk for gonadoblastoma or dysgerminoma.
A genetic‐epidemiologic study of human immune responsiveness to allergens in an industrial population: I. Epidemiology of reported allergy and skin‐test positivity
Authors: Freidhoff Linda R. , Meyers Deborah A. , Bias Wilma B. , Chase Gary A. , Hussain Rabia , Marsh David G. , Opitz John M. 
Published: June 2005

AbstractFour hundred six subjects, comprising a 10% random sample of all employees, and a sample of “self‐reported” allergic employees of a light industrial plant participated in an epidemiologic study of allergy. Puncture skin testing with a wide variety of crude allergens revealed a significantly higher prevalence of IgE‐mediated sensitivity in males than females (29% males and 7% females in a random group; 60% males and 30% females in a self‐reported allergic group); however, reported prevalence rates for “allergy” and different allergic symptoms were generally not different between males and females. Interestingly, reported asthma was greater in skin‐test‐positive subjects than in skin‐test‐negative subjects. We also noted a decrease in skin‐test positivity with increasing age in self‐reported allergic subjects. This was significant in the case of several crude allergens but not in the case of positivity to at least one allergen. We also found evidence that people born in and who have been resident in “Zone I” (MD, PA, Del, NJ, or DC) for most of their lives exhibit a greater prevalence of skin‐test positivity than people who were born in and have lived for much of their lives in the northeastern United States (east of the Mississippi River and to the north of South Carolina) other than in Zone I.
De novo partial 2p duplication with postmortem description
Authors: Monteleone P. L. , Blair J. D. , Graviss E. R. , Chen Su‐Chiung , Salvador A. , Grzegocki J. A. , Monteleone J. A. , Francke Uta 
Published: June 2005

AbstractAn unbalanced karyotype most likely consisting of a partial duplication of the short arm of chromosome 2 (p13→pter) was found in a newborn infant with intrauterine growth retardation, facial, skeletal, and cardiac abnormalities. There was no evidence of a translocation in either parent. At autopsy, striking histopathologic abnormalities were detected in the central nervous system and ovaries.
Altered red cell osmotic fragility in Huntington disease (HD)
Authors: McCormack Michael K. , Ullman Joseph , Lazzarini Alice , Opitz John M. 
Published: June 2005

AbstractWe have studied in fresh and 24‐hour incubated samples the osmotic fragility of erythrocytes from 13 individuals with Huntington disease (HD) and 22 at‐risk, asymptomatic individuals. Five older at‐risk, asymptomatic individuals and six Alzheimer disease individuals were also studied. Results suggest that osmotic fragility of red cells from HD individuals is significantly decreased in fresh (P < 0.0001) and incubated (P < 0.0001) samples. At‐risk individuals appear to fall into two groups: (1) those with normal osmotic fragility (n = 10), and (2) those with decreased osmotic fragility (n = 12). Fragility in older at‐risk persons and those with Alzheimer disease were within normal limits. These data suggest that red cell osmotic fragility measurement may be useful to identify at‐risk persons with an HD gene; however, longitudinal follow‐up will be required to confirm the predictive power of this observation. These data suggest additional support for focusing on the erythrocyte in investigating the molecular pathogenesis of HD.
A new form of metaphyseal chondrodysplasia in two sibs: Surgical treatment of tracheobronchial malacia and scoliosis
Authors: Kaitila I. I. , Halttunen P. , Snellman O. , Takkunen O. , Opitz John M. 
Published: June 2005

AbstractWe describe a 19‐year‐old male with a previously unrecognized form of disproportionate short stature, tracheobronchial malacia, and progressive scoliosis and his 28‐year‐old sister with the same but milder condition. The clinical characteristics were short limbs and digits and thoracolumbar scoliosis. Bone films showed progression from marked metaphyseal dysplasia of tubular bones in childhood to short and broad bones with mild dysplasia of the joints in adulthood. The vertebrae and the intervertebral plates were only mildly affected in spite of marked scoliosis. Trachea and bronchi were reinforced with surrounding acrylate mesh before surgical treatment of the scoliosis. Affected sibs of both sexes and healthy parents suggest an autosomal recessive mode of inheritance.
The genetic analysis of monilethrix in a large inbred kindred
Authors: Schaap T. , Even‐Paz Z. , Hodes M. E. , Cohen M. M. , Hacham‐Zadeh S. 
Published: June 2005

AbstractThe gene for monilethrix was segregating in a large inbred kindred. Pedigree analysis reaffirms an autosomal dominant mode of inheritance. Expressivity appears equally variable within and between sibships while penetrance, in contrast to previous studies, seems to be complete.
Ullrich‐turner syndrome (45,X/46,X,i[Xq]) in a child with a familial inversion of chromosome 3
Authors: Stine Susan B. , Clark Constance E. , Telfer Mary A. , Casey Pamela A. , Cowell Henry R. 
Published: June 2005

AbstractWe report a girl with shortness of stature and minor anomalies representing a mild form of the Ullrich‐Turner syndrome. Cytogenetic studies showed 3 distinct anomalies: (1) a familial pericentric inversion, inv(3) (p25q21)pat, in all cells examined; (2) monosomy X (45,X) in 70% of cells; (3) isochromosome X (46,X,i(Xq)) in 30% of cells. The karyotype designation is: 45,X,inv(3) (p25q21)pat/46,X,i(Xq), inv(3) (p25q21)pat. The pedigree, which was originally interpreted as representing the segregation of a 2;3 translocation, is corrected and updated. Reproductive risks in families with pericentric inversions are discussed.
Linkage analysis with the trismus‐pseudocamptodactyly syndrome
Authors: Robertson R. D. , Spence M. Anne , Sparkes R. S. , Neiswanger K. , Field L. L. , Opitz John M. 
Published: June 2005

AbstractIn 6 generations of a family with the trismus‐pseudocamptodactyly syndrome (TPS), we identified 53 affected individuals, 33 females and 23 males. Thirty‐one of the 53 were personally examined, as were 77 unaffected relatives. The clinical findings are compared with those of previous reports. Severity of expression is highly variable, but reduced penetrance was not observed.We obtained blood specimens for linkage analysis on all 108 examined individuals. Linkage could be excluded for 16 polymorphic marker loci. The largest positive lod scores were for the BF and AK1 marker systems, being 0.9 and 0.6, respectively. Since BF and AK1 are on different chromosomes (6 and 9, respectively), these results do not indicate a location for the TPS gene.