bluuebunny/crossref_metadata_2025_split huggingface dataset:
Chromosome findings in 2,500 second trimester amniocenteses
Authors: Crandall Barbara F. , Lebherz Thomas B. , Rubinstein Lidia , Robertson Robert D. , Sample William F. , Sarti Dennis , Howard Judy , Opitz John M. 
Published: June 2005

AbstractWe have analyzed the chromosome abnormalities found in 2,500 amniocenteses for prenatal diagnosis; 1,887 (75%) were performed because the maternal age was 34 years or more. Chromosome abnormalities were detected in 1.80% of those referred for advanced maternal age, 1.2% between ages 34 and 39 years and 4.6% 40 years and over. Of these, four occurred in women who would have been 34 years at delivery (2.9%). Trisomy 21 accounted for 50% of the chromosome abnormalities; sex chromosome abnormalities, for 25%; the remaining 25% was divided equally between trisomy 18 and partial trisomies and mosaics. Unexpected translocations were found in 0.4%, of which two‐thirds were balanced and identified in one parent. The accuracy was 99.6%.
Syndactyly: Frequency of specific types
Authors: Castilla Eduardo E. , Paz Joaquin E. , Orioli‐Parreiras Iêda M. , Opitz John M. , Hermann Jürgen 
Published: June 2005

AbstractSyndactyly without other combined limb anomalies, Poland complex, or amniotic bands, was diagnosed in 174 of 599, 109 consecutive newborn infants (3/10,000). Syndactyly was the only diagnosed anomaly in 133 cases, and it was associated with other anomalies in 41. The most common type of syndactyly was isolated syndactyly of the second and third toes (70 cases), which affected more males than females, and had a higher than expected frequency of white non‐Latin‐European ancestry. The second most frequent type was isolated syndactyly of the middle and ring fingers (18 cases), and the third was isolated syndactyly of the fourth and fifth toes (13 cases). Considering both isolated and syndromal cases, 66% (114/172) could be assigned to one or another of the fourth genetic categories of syndactyly described by Temtamy and McKusick [1978]. This, plus the high frequency of affected first degree relatives observed (25/434:6%), suggests that the genetic forms of syndactyly may be more common than might be suspected from the small number of pedigrees in the literature.
The birth prevalence of malformation syndromes in Tokyo infants: A survey of 14,430 newborn infants
Authors: Higurashi Makoto , Iijima Kumiko , Sugimoto Yôko , Ishikawa Norihiko , Hoshina Hiroki , Watanabe Nobuo , Yoneyama Kuniyoshi , Miller James R. , Opitz John M. 
Published: June 2005

AbstractA survey of the birth prevalence of congenital anomalies among newborn infants in Japan is under way at a large maternity hospital in Tokyo. Of 14,430 consecutive newborn babies (7,455 M; 6,975 F), 33 had a multiple congenital anomalies (MCA) syndrome. These included 2 with trisomy 13 (including a mosaic), 3 with trisomy 18 (including 1 mosaic), 16 with trisomy 21 (including 1 mosaic), 1 with cri‐du‐chat syndrome, 1 with 5p partial trisomy, 1 with Hallermann‐Streiff syndrome, 1 with Treacher‐Collins syndrome, 1 with achondroplasia, 2 with arthrogryposis multiplex congenita, 1 with hemihypertrophy, 1 with Wiedemann‐Beckwith syndrome, 1 with asplenia syndrome, 1 with Klippel‐Trenaunay‐Weber syndrome, and 1 with probable Marfan's syndrome. Except for one infant with Ullrich‐Turner syndrome, cases with sex‐chromosome aberrations could not be diagnosed neonatally on a clinical basis.
Familial joint instability syndrome
Authors: Horton William A. , Collins Debra L. , DeSmet Arthur A. , Kennedy James A. , Schimke R. Neil , Opitz John M. 
Published: June 2005

AbstractWe describe a family in which many persons have generalized joint laxity frequently complicated by dislocation of major joints. The condition is an autosomal dominant trait, with high penetrance. The disorder observed in this family and in others from the literature appears to be a specific syndrome that can be distinguished from other familial forms of joint laxity such as simple familial joint laxity and the Ehlers‐Danlos syndromes. It has been designated the familial joint instability syndrome.
Hallux duplication, postaxial polydactyly, absence of the corpus callosum, severe mental retardation, and additional anomalies in two unrelated patients: A new syndrome
Authors: Schinzel A. , Schmid W. 
Published: June 2005

AbstractTwo unrelated patients, a 4‐year‐old boy and a 2 1/2‐year‐old girl, presented with a similar pattern of abnormalities. Both had severe mental retardation, macrocephaly, absence of the corpus callosum, unusual facial appearance, duplication of hallucal phalanges, postaxial hexadactyly of finger phalanges, and 2/3‐syndactyly of toes. The boy also had postaxial hexadactyly of toe phalanges, inguinal hernias and umbilical hernia, and growth retardation. We suspect a common cause of this apparently “new” syndrome, most likely a gene mutation.
A 48,XXXX female with absence of ovaries
Authors: Collen Roberta J. , Falk Rena E. , Lippe Barbara M. , Kaplan Solomon A. 
Published: June 2005

AbstractA 16 1/2‐year‐old phenotypic female had primary amenorrhea, mild mental retardation, radiounar synostosis, and other minor anomalies. Chromosome constitution of leukocytes and skin fibroblasts was 48,XXXX. Plasma levels of gonadotropins were increased, and those of estrogens, decreased consistent with ovarian failure. Laparoscopy showed a small midline uterus, and 2 fallopian tubes, and fimbriae. Neither ovaries nor gonadal streaks were seen on either side. This patient appears to represent the first instance of 48,XXXX aneuploidy with documented absence of ovaries.
Achalasia and microcephaly
Authors: Dumars Kenneth W. , Williams James J. , Steele‐Sandlin Constance , Holmes Lewis B. 
Published: June 2005

AbstractThe authors report the combination of achalasia, microcephaly, and mental retardation in three surviving sisters and similar manifestations in a brother who died after recurrent vomiting and respiratory infections. The achalasia in the females was relieved with an operation. There was no demonstrable chromosomal abnormality. In this family achalasia, microcephaly, and mental retardation occurred together as an apparent autosomal recessive syndrome.
Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly—a new syndrome? Part I: Clinical, causal, and pathogenetic considerations
Authors: Hall J. G. , Pallister P. D. , Clarren S. K. , Beckwith J. B. , Wiglesworth F. W. , Fraser F. C. , Cho S. , Benke P. J. , Reed S. D. , Optiz John M. 
Published: June 2005

AbstractWe report on six infants with a neonatally lethal malformation syndrome of hypothalamic hamartoblastoma, postaxial polydactyly, and imperforate anus. Some, but not all, patients had laryngeal cleft, abnormal lung lobulation, renal agenesis and/or renal dysplasia, short 4th metacarpals, nail dysplasia, multiple buccal frenula, hypoadrenalism, microphallus, congential heart defect, and intrauterine growth retardation. The infants also had hypopituitarism and hypoadrenalism.All were sporadic cases, parents were not consanguineous, chromosomes were apparently normal. Family histories were unremarkable. There was insecticide and/or herbicide exposure in several of the cases, but no exposures were common to all 6 mothers. Five of the patients were born within an 8‐month period, but all in different geographic locations. It is postulated that this is a previously apparently unreported syndrome of presently unknown cause.
Multiple pterygium syndrome
Authors: Chen Harold , Chang Chung‐Ho , Misra Raghunath P. , Peters Henry A. , Grijalva Noel Sandino , Opitz John M. , Lowry R. Brian 
Published: June 2005

AbstractWe describe a sporadic case and four sibs from a consanguineous Nicaraguan family affected with the multiple pterygium syndrome. Clinical manifestations included normal intelligence; short stature; pterygia of neck, axillary, antecubital, popliteal, digital, and intercrural areas; multiple joint contractures with a crouched stance; a flat, sad, motionless facial appearance; and cleft palate. Males had small penis and scrotum and cryptorchidism; females had apparent aplasia of labia majora and small clitoris. Skeletal anomalies included fusion of cervical vertebrae, scoliosis, flexion contractures of fingers and “rocker‐bottom” feet with vertical talus. This review documents genetic heterogeneity: Autosomal recessive inheritance in many cases, autosomal dominant determination in others, and sporadic occurrence.
Dicentric Y chromosome arising via tandem translocation
Authors: Herva Riitta , Saarinen Irja , Savikurki Helka , de la Chapelle Albert , Optiz John M. 
Published: June 2005

AbstractWe describe a 22‐year‐old woman with primary amenorrhea, bilateral gonadoblastomas, and short stature (148.0 cm), but no other signs of the Ullrich‐Turner syndrome. There were three cell lines identified in peripheral blood lymphocytes – 45,X (30%), 46,XY (60%), and 46,X,tan dic(Y) (10%). Cells cultured from gonadal biopsies showed only the 45,X karyotype. However, frozen sections of the biopsies showed frequent single and rare double‐Y‐chromatin bodies. Lymphocytes were H‐Y antigen‐negative.This previously undescribed structurally abnormal chromosome probably consists of two Y chromosomes attached end‐to‐end in a tandem translocation. One of the centromeres forms the primary (functional) constriction, the other being detectable only as C‐positive material on each chromatid, so presumably inactive. The discrepancy between the presence of Y‐chromatin in frozen sections of the gonads and its absence from karyotype in gonadal cultures is indicative of cell selection in tissue culture. Finally, the case confirms the high risk of gonadoblastoma in women with a Y chromosome, even in the absence of H‐Y antigen.
Duplication 12q mosaicism in two unrelated patients with a similar syndrome
Authors: Harrod M. J. E. , Byrne J. B. , Dev V. G. , Francke Uta , Optiz John M. 
Published: June 2005

AbstractTwo unrelated children with a similar syndrome were found to have mosaicism for a cell line containing one chromosome 12 with an additional faintly G‐banding staining region that apparently represents a duplication of the distal portion of the long arm. The homolog and the other chromosomes are normal, as are the parental chromosomes. The remarkable phenotypic similarity of the 2 patients and their resemblance to 2 previously reported patients with duplication of the same chromosome region suggests that duplication 12q24 results in a clinically identifiable malformation syndrome.
Effects of chromosome constitution on growth and longevity of human skin fibroblast cultures
Authors: Hoehn H. , Simpson M. , Bryant E. M. , Rabinovitch P. S. , Salk D. , Martin G. M. , Optiz John M. 
Published: June 2005

AbstractEmploying standardized cell‐culture methods, 10 euploid and 22 constitutionally aneuploid human skin fibroblast strains were assessed in triplicate for total growth potential, growth rates, population‐doubling times, and cloning. In addition, longitudinal growth rate studies were carried out with otherwise isogenic 45,X and 47,XXX clonal cultures derived from a mosaic parental strain. Growth rates and longevities were cell‐strain specific and highly reproducible among sister cultures of a given strain. There was no systematic correlation between chromosome constitution and any of the measured growth parameters. Trisomic as well as monosomic strains showed the same degree ofvariability with respect to these parameters as did euploid cultures. In particular, 4 trisomy 21 strains were not unusually short‐lived, nor were clones with the 47,XXX constitution compared to those with 45,X karyotypes.We therefore conclude that the cumulative number of in vitro doublings preceding senescence of fibroblast‐like cells cultured from skin does not differ significantly among cultures derived from humans who have a normal karyotype, trisomy 13, 18, or 21, the 45,X constitution, or various combinations of extra X and Y chromosomes.
Plasma exchange removes glycosphingolipid in Fabry disease
Authors: Pyeritz Reed E. , Ullman M. David , Moser Ann B. , Braine Hayden G. , Moser Hugo W. , Optiz John M. 
Published: June 2005

AbstractIn a man with Fabry disease, basal plasma glycosphingolipid (GSL) levels were determined by high‐performance liquid chromatography (HPLC). A series of three alternate‐day plasma exchanges transiently lowered plasma ceramide trihexoside (CTH) to normal. A total of 70 μmoles of CTH were removed by eight plasma exchanges. If future studies show that pathologic tissue accumulations of CTH are reduced by plasma exchange, then long‐term repetitive plasma exchange could be used as treatment until enzyme replacement is practical.
Familial occurrence of bifid femur and monodactylous ectrodactyly
Authors: Gollop T. R. , Lucchesi E. , Martins R. M. M. , Nione A. S. , Optiz John M. 
Published: June 2005

AbstractTwo brothers each hada one normal upper limb; one had tridactylous ectrodactyly of one hand with normal forearm bones; the other had monodactyly of one hand with absent ipsilateral ulna. Both had monodactyly of the feet, absence of the tibiae, and unilateral bifurcation of the femur. A sister of the paternal grandfather was purportedly similarly affected. Since her parents and the father and paternal grandfather of the affected boys were normal, the pattern of inheritance of the trait in this family is presently unclear.
Genetic associates/counselors in genetic services
Authors: Kessler Seymour , Optiz John M. 
Published: June 2005

AbstractA survey of US directors of genetic services showed that about 38% of the non‐physician professionals providing such services are genetic associates/counselors (GAs). Over 90% of GAs appear to be involved in direct human services, rather than in the performance of laboratory procedures or research.Although they wanted GAs to be competent in communication and inter‐personal skills, counseling, and community education, employers and potential employers tended to rank a background preparation in and knowledge of psychosocial principles relatively less important than a knowledge of biological principles. The possible consequences of these attitudes are discussed in light of the fact that GAs represent a new profession which is still evolving and struggling to define its professional role in genetic services. Despite some role ambiguities, employers familial with their work expressed a strong vote of confidence in these professionals.
Frequency of the branchio‐oto‐renal (BOR) syndrome in children with profound hearing loss
Authors: Fraser F. C. , Sproule J. R. , Halal F. , Optiz John M. 
Published: June 2005

AbstractNineteen of 421 white children in Montreal schools for the deaf had preauricular pits. The branchio‐oto‐renal (BOR syndrome was identified in four of the nine families who agreed to family investigation, including audiograms and intra‐venous pyelograms (IVPs), and may have been present in several others. The penetrance of this autosomal dominant syndrome appears to be high. It is estimated that severe renal dysplasia occurs in about 6% of heterozygotes. The presence of a preauricular pit at birth suggests that the child has at least one chance in 200 of severe hearing loss, and this warrants a careful family history, as well as alertness for any signs of hearing impairment. Offspring of affected individuals are eligible for prenatal diagnosis of renal dysplasia.
Limitations of amniography in the prenatal diagnosis of spina bifida
Authors: Fernhoff Paul M. , Marion Janet P. , Priest Jean H. , Optiz John M. 
Published: June 2005

AbstractA fetus with an open, noncystic myelomeningocele was detected at the 22nd week of gestation in a woman monitored for advanced maternal age. The lesion could not be demonstrated on amniography. In 13% of published reports amniography failed to detect significant spina bifida lesions. This false‐negative rate seems related to the noncystic nature of some neural tube defects at midgestation.
The syndrome of multisynostotic osteodysgenesis with long‐bone fractures
Authors: DeLozier C. Dawn , Antley Ray M. , Williams Rick , Green Neil , Heller Richard M. , Bixler David , Engel Eric , Optiz John M. 
Published: June 2005

AbstractDescribed here are two patients with a newly recognized syndrome of bone and cartilage maldevelopment which, we believe, results from a single embryonic defect, probably of genetic origin. The cardinal manifestations of this association are craniosynostosis, radiohumeral synostosis (RHS), and femoral bowing. Specific secondary defects include midface hypoplasia with characteristic facial appearance and ears, neonatal femoral fractures, and multiple minor anomalies of the limbs. Though the differential diagnosis includes such disorders as the campomelic syndrome, osteogenesis imperfecta (OI) and certain of acrocephalosyndactyly syndromes, the unique combination of clinical and radiographic abnormalities allows ready differentiation. The cause cannot be determined from these two cases.
Nonspecific X‐linked mental retardation II: The frequency in British Columbia
Authors: Herbst Diana S. , Miller James R. 
Published: June 2005

AbstractData on nonspecific mental retardation in two or more sibs ascertained from the British Columbia Health Surveillance Registry are utilized to calculate the frequency of X‐linked mental retardation in the population of British Columbia (B.C.). In the 1950–1969 birth cohort there are 107 sibships with only males affected and 35 sibships with only females affected giving an excess of 72 male‐affected sibships. Family histories of the sibships with two or more mentally retarded males provide evidence that the mothers of the excess of male‐affected sibships are carriers of X‐linked mental retardation. Thus, a frequency of 1.83 per 1,000 males for X‐linked mental retardation and a carrier frequency of 2.44 per 1,000 females are calculated. This frequency can account for all of the excess of males in the population who are affected with nonspecific mental retardation. We estimate that seven to 19 X‐linked genes exist to cause nonspecific mental retardation, and that the frequency of the marker‐X chromosome, associated with X‐linked mental retardation in some families, may be 0.92 per 1,000 male births.
Confidence bands for the growth of head circumference in achondroplastic children during the first year of life
Authors: Dawson Deborah V. , Todorov Alexandre B. , Elston Robert C. 
Published: June 2005

AbstractConfidence bands are established for the growth of head circumference in achondroplastic children during their first year of life. The model
equation image
where a = (1, t,t2) and t is age expressed in months provides the best estimated propulation mean curve with 95% confidence limits.
The “long‐thumb” brachydactyly syndrome
Authors: Hollister David W. , Hollister William G. 
Published: June 2005

AbstractA unique variety of brachydactyly associated with skeletal and joint anomalies and possible cardiac conduction defects has been observed in three generations of one family in a pattern consistent with autosomal‐dominant transmission. This combination of anomalies has not previously been seen together as a single syndrome. We report clinical and radiographic studies in three of the four affected family members.
An infant with duplication of 17q21→17qter
Authors: Gallien J. U. , Neu R. L. , Wynn R. J. , Steinberg‐Warren N. , Bannerman R. M. , Opitz John M. 
Published: June 2005

AbstractDuplication of the distal part of 17q has been reported in 4 patients [1, 2]. We are reporting clinical, autopsy, and cytogenetic data on an additional patient whose condition was due to a familial translocation in which the patient's chromosome constitution is 46,XX,der(4),t(4;17)(p16;q21) pat. The phenotype of the five known patients with this duplication is very similar, and their manifestations are distinct enough to be clinically recognizable. Abnormalities common to all five patients are severe growth impairment, craniofacial anomalies with severe hypertelorism, frontal bossing and temporal narrowness, a widow's peak, narrow palpebral fissures, a thin upper lip overlapping a thin lower lip with down‐turned corners of the mouth, micrognathia, apparently low‐set and deformed ears, short webbed neck, and hyperlaxity of the limbs.
Spondylocostal dysostosis associated with anal and urogenital anomalies in a Mennonite sibship
Authors: Casamassima Anthony C. , Morton Cynthia Casson , Nance Walter E. , Kodroff Michael , Caldwell Robin , Kelly Thaddeus , Wolf Barry 
Published: June 2005

AbstractSpondylocostal dysostosis, anal atresia, and urogenital anomalies were observed in two male infants of a consanguineous Mennonite couple. A careful review of previously reported syndromes of severe vertebral abnormalities and/or imperforate anus suggests that our patients have a previously undescribed recessive disorder that should be included in the differential diagnosis of rib and vertebral anomaly syndromes.
Long survival in Trisomy‐13‐syndrome: 21 cases including prolonged survival in two patients 11 and 19 years old
Authors: Redheendran R. , Neu R. L. , Bannerman R. M. , Opitz John M. 
Published: June 2005

AbstractThe mean survival in Trisomy‐13‐syndrome patients is reported to be 130 days. We have diagnosed 21 cases of this syndrome in this institution (11 females and 10 males); 15 patients had regular trisomy 13 and 6 had translocation‐trisomy 13 karyotypes. The mean survival of the 19 patients who died was 97.05 days; translocation patients survived longer than regular trisomy patients. The oldest living patients with trisomy 13 are a girl 19 and a boy 11 years old. Both are black, have regular trisomy 13 karyotypes and have had most of the manifestations of the syndome. No mosaicism was detected in repeated cytogenetic studies. The 19‐year‐old patient is the oldest known living person with regular trisomy 13.
Two locus models for gluten sensitive enteropathy: Population genetic considerations
Authors: Greenberg David A. , Rotter Jerome I. , Opitz John M. 
Published: June 2005

AbstractFamilial occurrence of coeliac disease (gluten‐sensitive enteropathy, GSE) is well known, but the mode of inheritance remains unclear. Peña et al proposed that the genetic basis for GSE was due to disease‐predisposing alleles at two loci: DRw3 at the HLA‐D locus and a GSE‐associated B‐cell alloantigen at another, unlinked locus. They concluded that clinical disease required one DRw3 (dominant inheritance) and two B‐cell alloantigen alleles (recessive inheritance), but the observed gene frequencies were not consistent with the observed disease prevalence. Here we examine the gene frequencies allowed, assuming a 2‐locus model, under the constraints of known disease prevalence limits and the segregation ratio calculated from 42 published families.The gene frequencies found by Peña et al predict the segregation ratio observed in the published pedigrees and the best estimates of disease prevalence of GSE, provided (1) a 2‐locus model is assumed and (2) both loci exhibit recessive inheritance. The segregation ratio appears incompatible with a 2‐locus dominant‐recessive model without assuming reduced penetrance.
Cartilage‐hair hypoplasia, defective T‐cell function, and Diamond‐Blackfan anemia in an Amish child
Authors: Harris Richard E. , Baehner Robert L. , Gleiser Sonia , Weaver David D. , Hodes M. E. , Opitz John M. 
Published: June 2005

AbstractAn Amish boy with cartilage‐hair hypoplasia (CHH) and cell‐mediated immunodeficiency developed “congenital” hypoplastic anemia (CHA) of the Diamond‐Blackfan type by two months. Alterations of T cell function have been described separately in CHH and CHA, but this is the first known report linking the two conditions. The patient has two relatives with CHH, one with associated leukemia and one with Hodgkin disease.