bluuebunny/crossref_metadata_2025_split huggingface dataset:
Study of nucleolar organizer in women with galactorrhea, or polycystic ovaries, or using oral contraceptive
Authors: Li Xinzhi , Zhou Xianting , Opitz John M. 
Published: June 2005

AbstractIn this paper we report on changes of the Ag‐stained NOR (Ag‐NOR) and Ag‐stained acrocentric association (Ag‐AA) frequencies in lymphocytes of women with polycystic ovaries, galactorrhea, or taking oral contraceptives. The results showed that Ag‐AA frequencies were increased significantly in all three study groups while the Ag‐NOR frequencies apparently did not increase.We assume that a difference in average Ag‐NOR frequency between the two groups may be a measure of the change in the number of active rRNA genes, and that differences of Ag‐AA frequency among populations reflect the change in transcriptional rate of the active rRNA genes.
Part II. Amyoplasia: Twinning in amyoplasia—a specific type of arthrogryposis with an apparent excess of discordantly affected identical twins
Authors: Hall J. G. , Reed S. D. , McGillivray B. C. , Herrmann J. , Partington M. W. , Schinzel A. , Shapiro J. , Weaver D. D. , Opitz John M. 
Published: June 2005

AbstractWe report on 11 cases of amyoplasia in one of identical twins. In total, 135 patients with amyoplasia were ascertained from a study of 350 patients with multiple congenital joint contractures (arthrogryposis). These 11 cases of identical twins with amyoplasia represent 8% of our patients with amyoplasia.At least 18 sets of twins with congenital contractures have been reported previously. However, only four of these appear to involve identical twins discordant for amyoplasia. Thus, 15 cases in which only one of identical twins are affected with amyoplasia have been identified.
Possible introduction of Huntington's chorea into Pacific islands by New England whalemen
Authors: Scrimgeour Euan M. , Opitz John M. 
Published: June 2005

AbstractHuntington's disease (HD) has been reported in two isolated South Pacific islands, New Britain in Papua New Guinea, and Malaita in the Solomon Islands. The earliest presumptive choreics in these foci were born in the latter part of the 19th century, prior to the colonial period. It is known that these islands were visited by certain New England whalers in the precolonial era, and inspection of the crew lists of these whalers shows many men with surnames common to families in New England known to have produced HD individuals. In some instances, the name, age, and origin of whalemen correspond with those of known choreic individuals. It is suggested that New England whalemen carrying the trait for HD introduced the disease to these islands.
Two lethal chondrodysplasias with giant chondrocytes
Authors: Yang S. S. , Roskamp J. , Liu C. T. , Frates R. , Singer D. B. , Opitz John M. 
Published: June 2005

AbstractTwo infants, each with a different form of sporadic lethal chondrodysplasia, had multinucleated giant chondrocytes in resting cartilage. Both patients also had severe laryngeal stenosis and normal chromosomes. The radiographic abnormalities in one patient conformed to the recently delineated entity, atelosteogenesis (spondylohumerofemoral hypoplasia or giant cell chondrodysplasia); the other patient had an unclassified type of spondyloepiphyseal dysplasia. The findings in these two patients and the previously reported observations in spondylohumerofemoral dysplasia confirm that chondrocytic giant cells are a causally nonspecific phenomenon.
Repeated pregnancy loss
Authors: FitzSimmons Jack , Wapner Ronald J. , Jackson Laird G. , Opitz John M. 
Published: June 2005

AbstractDebate persists over the value of chromosome analysis of couples with repeated pregnancy loss. Therefore, we studied the records of all patients referred to the Genetics Division at Thomas Jefferson University for repeated pregnancy loss. Couples were divided into three groups according to the reason for evaluation. In group I (two consecutive abortions) significant chromosome abnormalities were found in 1.8% of individuals; in group II (three or more consecutive abortions) 2.3% of individuals had a chromosome abnormality; and in group III (50% fetal loss) 1.8% of persons had abnormal chromosomes. These rates are lower than those reported by others, but are still ten times higher than those expected in the general population and affirm the value of doing a chromosome study in such couples.In addition, we found increased incidence of liveborn offspring with congenital abnormalities in couples evaluated for the above indications, and found a high incidence of a family history of repeated suboptimal pregnancy outcome. The significance of these findings is discussed.
AREDYLD: A syndrome combining an acrorenal field defect, ectodermal dysplasia, lipoatrophic diabetes, and other manifestations
Authors: Pinheiro Marta , Freire‐Maia Newton , Chautard‐Freire‐Maia Eleidi A. , Araujo Leila M. B. , Liberman Bernardo , Opitz John M. 
Published: June 2005

AbstractA daughter of second cousins is described as having lipoatrophic diabetes, unusual facial appearance, generalized hypotrichosis, two natal teeth with enamel dysplasia, eruption of four dysplastic deciduous teeth, absence of permanent dentition, low birth weight, short stature, lumbar scoliosis, renal alterations, aplasia of a breast and hypoplasia of the other, hypoplastic and hypopigmented areolae with diffuse limits, hyperostosis of the cranial vault, metacarpal hypoplasias, difficulty of grasping with the left hand, exertional dyspnea, absence of DIP extension and flexion creases, dermatoglyphic alterations, and other anomalies. Her sister, dead at 1 1/2 years, had had some manifestations of the condition; seven sibs are normal. It is more likely that the whole clinical picture represents a single syndrome rather than homozygosity of different autosomal‐recessive genes.
Absence of dermal ridge patterns: Genetic heterogeneity
Authors: Reed Terry , Schreiner Richard L. 
Published: June 2005

AbstractAn apparently new form of complete absence of dermal ridge patterns was transmitted as an autosomal dominant trait through five generations in an Irish‐American family. Affected individuals lacked dermatoglyphic patterns, sweat pores, and ability to sweat in the volar areas of the fingertips, palms, and soles. They also had congenital milia and blisters on the fingertips and soles at birth, abnormal nails, single transverse palmar creases, increased heat tolerance, and painful fissures in adult life around the fingernails in cold weather.
Origin of nondisjunction in trisomy 21 syndrome: All studies compiled, parental age analysis, and international comparisons
Authors: Juberg Richard C. , Mowrey Philip N. 
Published: June 2005

AbstractThe Q‐band polymorphism of chromosome 21 permits assignment of the origin of meiotic nondisjunction by parent and meiotic division in a certain proportion of cases. We have compiled all reports through 1982 (including earlier studies using structural abnormality) and have shown that maternal origin accounts for 80% and paternal origin for 20% of trisomic cases. The ratio of first:second meiotic errors among the maternal cases was 80:20 and 60:40 among the paternal cases. Considering maternal and paternal first and second meiotic errors, we showed no differences of either mean maternal or paternal age, though mean maternal age is about 5 yr higher than that of the general population. Comparison of results of six studies from five countries showed similar frequencies by parent and meiotic division with the possible exception of one study from the northeastern United States. The causative role of simply advancing maternal age in nondisjunction is questioned.
Hirschsprung disease: Etiologic implications of unsuccessful prenatal diagnosis
Authors: Jarmas Audre L. , Weaver David D. , Padilla Lillie Mae , Stecker Ellyn , Bender Harvey A. , Opitz John M. 
Published: June 2005

AbstractWe describe an infant with Hirschsprung disease (congenital aganglionosis of the intestine) involving the colon and terminal ileum. Midtririmester prenatal diagnosis of this disorder in this infant was attempted utilizing amniotic fluid disaccharidase analyses, ultrasound, and amniography. Decreased disaccharidase activities in amniotic fluid have been reported previously in association with other forms of intestinal obstruction. At 15 weeks' gestation, normal amniotic fluid disaccharidase levels were obtained. Serial ultrasound evaluations did not indicate any pathology, and the results from amniography were inconclusive. The implication of the normal disaccharidase values is that Hirschsprung disease may in some cases result from degeneration of intestinal ganglia after 16 weeks' gestation rather than from faulty migration of neural crest cells.The inheritance of Hirschsprung disease is generally consistent with sex‐modified multifactorial inheritance with a lower threshold of expression in males. The case we report has a family history of three affected first‐ and second‐degree relatives. Autosomal dominance with variable expressivity is a possible explanation in this family.
Morquio B syndrome: A primary defect in β‐galactosidase
Authors: van der Horst Gijsbertus T. J. , Kleijer Wim J. , Hoogeveen André T. , Huijmans Jan G. M. , Blom Wim , van Diggelen Otto P. 
Published: June 2005

AbstractFibroblasts from patients with Morquio B syndrome contain normal numbers of β‐galactosidase molecules with normal turnover but strongly reduced activity per enzyme molecule. Various substrate affinities are abnormal: the KM for methylum belliferyl (MU)‐β‐galactoside is 4–10‐fold elevated and affinity for keratan sulphate and oligosaccharides, isolated from Morquio B urine, was not detectable. In contrast, these substrate affinities are normal for β‐galactosidase in adult type GM1‐gangliosidosis fibroblasts. Cell hybridization studies demonstrate that Morquio B syndrome and infantile and adult type GM1‐gangliosidosis belong to the same complementation group. From these results we conclude that Morquio B syndrome is caused by a mutation in the structural gene for β‐galactosidase, which is allelic to the mutations in infantile and adult type GM1‐gangliosidosis. Urinary excretion of keratan sulphate and oligosaccharides is abnormal in Morquio B syndrome but normal in adult type GM1‐gangliosidosis. The catalytic properties of β‐galactosidase in Morquio B syndrome and GM1‐gangliosidosis provide a possible explanation for the distinct clinical manifestations in these disorders.
Definition and diagnosis of the Brachmann–De Lange syndrome
Authors: Preus M. , Rex A. P. 
Published: June 2005

AbstractWe have classified patients referred for suspicion of the Brachmann–De Lange syndrome (BDLS) into two groups using techniques of numerical taxonomy. Patients with the syndrome share an array of abnormal characteristics, and those without it have different abnormal characteristics. A group of 30 characters that best distinguish the two groups of patients was used to construct a diagnostic index. The index score is expected to divide 99% of patients into those with and without the syndrome, leaving 1% in a “zone of doubt.” All 46 patients used to construct the index and 16 new patients had scores in either the BDLS or non‐BDLS range and none were in the zone of doubt. A previously published index using metacarpal‐phalangeal measurements, although less discriminatory, confirmed our findings in 84% of 25 patients tested, the remainder having scores in the zone of doubt for that index.
The fragile X syndrome II: Preliminary data on growth and development in males
Authors: Partington M. W. , Opitz John M. 
Published: June 2005

AbstractGrowth data–stature, body weight, occipito‐frontal circumference (OFC), ear length and mean testicular volume (MTV)—in 61 males with the fragile X syndrome are presented. Small increases in the mean OFC and ear length and large increases in the MTV were found. The overgrowth of the head was evident in childhood. The characteristic facial appearance was deemed to be present in 60% of the subjects and was recognizable in childhood. Macro‐orchidism (MTV of ≥ 30 ml) was present in 80% of the adults but none of the children.Five subjects had a cleft palate, 11 serious eye disorders (3 with congenital nystagmus), and 4 had torticollis and/or kyphosis.Limited information on development suggested that mental retardation was present from early life and was not progressive. Although 3 subjects were autistic (2 with self abuse) most were pleasant, even tempered and cooperative men and boys.
The fragile X syndrome I: Familial variation in the proportion of lymphocytes with the fragile site in males
Authors: Soudek D. , Partington M. W. , Lawson J. S. , Opitz John M. 
Published: June 2005

AbstractA review of 61 males with the fragile X positive form of the Martin Bell syndrome from 30 families seen in the past 4 years suggests that the number of lymphocytes with the fragile site on the X chromosome (fra(X)) in retarded males tends to be characteristic for the individual and similar to that found in other retarded males in the same family. The number of lymphocytes with fra(X) was not correlated with height, weight, occipitofrontal circumference, ear length or mean testicular volume in adults nor with age over the whole series.
Folic acid therapy in the fragile X syndrome
Authors: Brown W. T. , Jenkins E. C. , Friedman E. , Brooks J. , Cohen I. L. , Duncan C. , Hill A. L. , Malik M. N. , Morris V. , Wolf E. , Wisniewski K. , French J. H. , Opitz John M. 
Published: June 2005

AbstractTwo brothers with fra(X) positive X‐linked mental retardation (XLMR) were treated with folic acid. Initially a double blind cross‐over design was employed followed by a long‐term high dose trial. A decrease in the frequency of fra(X) positive cells was observed when low folic acid culture medium was used but not when an FUdR induction system was employed. Selected behavioral characteristics improved in both while receiving folic acid. Decreased hyperactivity, greater attention span, increased motor coordination, increased quantity and quality of speech were noted. Improvement in Leiter mental age and regression after cessation of treatment was seen in one subject but not in the other. Further controlled trials with larger numbers of subjects using high doses of folic acid over longer periods of time are needed to assess the possible benefits of this experimental form of treatment.
X‐linked mental retardation associated with bilateral clasp thumb anomaly
Authors: Gareis Frank J. , Mason Jon D. , Opitz John M. 
Published: June 2005

AbstractWe report on a family in which mental retardation is associated with a bilateral clasp‐thumb anomaly (absent extensor pollicis brevis tendons). Males over 3 generations were documented to have this combination of findings and pedigree analysis strongly suggests X‐linked inheritance. We are not aware of previous reports of X‐linked mental retardation (XLMR) associated with this anomaly. There was no evidence of a fragile X in the 2 brothers who were studied for this abnormality.
The Golabi‐Rosen syndrome ‐ report of a second family
Authors: Opitz John M. , Opitz John M. 
Published: June 2005

AbstractGolabi and Rosen (1984) have reported on a new X‐linked mental retardation/multiple congenital anomalies (XLMR/MCA) syndrome of pre‐ and postnatal overgrowth, characteristic “coarse” facial appearance with macrostomia, midline groove of tongue, lower alveolar ridge and lip, submucous cleft of palate, supernumerary nipples, intestinal anomalies, supernumerary pair of ribs, anomalies of sacrum and tailbone, hypoplastic index fingernails, postaxial polydactyly and other digital anomalies. This was an incompletely recessive trait with some manifestations evident in an obligatory carrier.Here we report on a second family (studied at the University of Wisconsin for over 9 years) in which 3 males born to half‐sisters and their mother were affected with the Golabi‐Rosen syndrome (GRS) Overgrowth was not a prominent manifestation in these affected males. Presence of cystic kidneys, peculiar skin changes and hepatomegaly make it likely that the Golabi‐Rosen syndrome is an X‐linked MCA/dysplasia/MR syndrome. Its metabolic basis remains unknown. It seems to be an incompletely recessive trait.
An X‐linked mental retardation syndrome with craniofacial abnormalities, microcephaly and club foot
Authors: Holmes Lewis B. , Gang David L. , Opitz John M. 
Published: June 2005

AbstractA male infant, who died of renal insufficiency at 6 months, had 2 similarly affected maternal uncles who died at 16 and 6 months respectively. Their manifestations include microcephaly, a large anterior fontanel, short nose with anteverted nostrils, club foot deformity, retarded psychomotor development and, in the index case only, kidney hypoplasia and dysplasia. The 2 obligatory carriers of this evidently X‐linked recessive syndrome had no physical abnormalities.
Terminal and interstitial deletions of the long arm of chromosome 7: A review with five new cases
Authors: Young R. S. , Weaver D. D. , Kukolich M. K. , Heerema N. A. , Palmer C. G. , Kawira E. L. , Bender H. A. , Opitz John M. 
Published: June 2005

AbstractSixteen cases of terminal deletions and 17 cases of interstitial deletions of the long arm of chromosome 7 have been reported to date. We present two new cases of the former and three of the latter. The somatic changes in these patients are tabulated and an update on the anomalies associated with the various cytogenetic entities is presented. Changes found in over one‐third of patients with 7q terminal deletion syndrome include: developmental delay, pre‐ and postnatal growth retardation, generalized hypotonia, abnormal electroencephalograms with or without seizures, feeding problems in infancy, microcephaly, prominent forehead, ocular hypertelorism, eye defects, broad nasal bridge, bulbous nasal tip, auricular malformations, micrognathia, chest abnormalities, genital malformations in males, and abnormal palmar and plantar creases. Evidence for the localization of the Kidd blood group gene on chromosome 7 distal to band q32, as suggested by previous reports, is reviewed; we conclude that the evidence does not warrant placement of the gene in this region of the genome.
Deletion of chromosome 15 (q11 – 13) in a Prader‐Labhart‐Willi syndrome clinic population
Authors: Cassidy Suzanne B. , Thuline Horace C. , Holm Vanja A. , Opitz John M. 
Published: June 2005

AbstractDeletion of the long arm of chromosome 15 has recently been reported in a number of patients with the Prader‐Labhart‐Willi syndrome who were studied with prometaphase banding. We performed cytogenetic analysis on 12 patients with this disorder in whom the clinical diagnosis was certain. A specific cytogenetic anomaly, del(15q11 – 13) was found in all of the 12 patients. In nine of the 12, the deletion was noted in all cells examined; in two, there was mosaicism, some cells having the deletion and others being normal; one patient had a 7;15 translocation. No clinical differences were evident between individuals with mosaicism for the translocation and those with the typical deletion in all cells examined. The finding that all of our patients with Prader‐Labhart‐Willi syndrome have a cytogenetic anomaly, with some patients having mosaicism, distinguishes the results of this study from those of previous reports. Prometaphase chromosome analysis is recommended in all individuals clinically suspected of having Prader‐Labhart‐Willi syndrome and should be considered in hypotonic infants without a specific diagnosis.
Utilizing automated methods to improve estimates of recurrence risk with linked genetic markers
Authors: Price R. Arlen , Kidd Kenneth K. , Opitz John M. 
Published: June 2005

AbstractInformation on linked markers can greatly improve estimates of recurrence risk for genetic disorders. However, when linkage is incomplete, utilizing the information in genetic counseling requires complex, repetitive calculations to estimate correct risks whenever the parental linkage phase is not precisely known. This paper demonstrates with examples how the computer program LIPED can be used for any pedigree to estimate risk precisely within bounds determined only by confidence limits on the recombination fraction.
Acrofacial dysostosis with severe facial clefting and limb reduction
Authors: Kawira E. L. , Weaver D. D. , Bender H. A. , Opitz John M. 
Published: June 2005

AbstractWe describe two unrelated patients with a severe form of acrofacial dysostosis. Facial defects in both include coloboma of the lids, micrognathia, lateral oral clefting, palatal clefting, and severe auricular anomalies, with one showing bilateral cleft lip and right oblique facial clefting as well. Both have absent forearms and thumbs. Lower limbs were severely reduced in both infants with the feet attached either to the femur or directly to the trunk. Parental consanguinity was present in one case. The condition in these two infants appears to represent either a severe form of Nager acrofacial dysostosis or a new type of acrofacial dysostosis.
Mosaic inversion duplication of chromosome 15 without phenotypic effect: Occurrence in a father and daughter
Authors: Knight Louise A. , Lipson Mark , Mann John , Bachiman Ronald , Opitz John M. 
Published: June 2005

AbstractA mosaic marker chromosome was observed in 2 generations. Multiple staining techniques identified it as an inverted duplication of chromosome 15 (inv dup 15) derived from the paternal grandmother. Although this inv dup 15 included a central R band, there was no noticeable phenotypic effect.
Prenatal diagnosis of chronic granulomatous disease
Authors: Matthay Katherine K. , Golbus Mitchell S. , Wara Diane W. , Mentzer William C. , Karp Laurence E. 
Published: June 2005

AbstractA luminol enhanced chemiluminescence micromethod has been adapted for use in prenatal diagnosis of chronic granulomatous disease (CGD). After validation of the assay in normal adults, newborns, fetuses, CGD carriers, and CGD patients, the fetuses of two pregnant CGD carriers were tested after fetoscopic aspiration of fetal blood. Normal neutrophil chemiluminescence and nitroblue tetrazolium slide tests were followed by delivery of two healthy infants whose normality was confirmed. Amniocytes proved useless for the prenatal diagnosis of CGD. They were found to have negligible nitroblue tetrazolium reduction, oxygen metabolism, and oxygen dependence.
The consumers' views of genetic counseling of hemophilia
Authors: Markova Ivana , Forbes C. D. , Inwood M. , Optiz John M. 
Published: June 2005

AbstractTwenty‐five Scottish and 22 Canadian patients with hemophilia, and 15 Scottish and 14 Canadian carriers of hemophilia participated in the study. They were interviewed with respect to their experience of and attitudes to genetic counseling, perceptions of the counselor's role, and satisfaction with existing care for families with hemophilia. Most patients and carriers favor genetic counseling as part of general counseling offered to them by the hemophilia center and think that such counseling should include dealing with such issues as schooling, employment, emotions, and psychological problems. Prenatal testing and termination of pregnancy is at present unacceptable to most of the participants, although they do not object to the use of these methods in cases of illnesses more severe than hemophilia.