bluuebunny/crossref_metadata_2025_split huggingface dataset:
A prenatally detected inv dup(15)
Authors: Pecile Vanna , Archidiacono Nicoletta , Rustico Maria Angela , Fiscella Claudio , Rocchi Mariano , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractAn extra G group‐like chromosome was found in an amniotic fluid cell culture. With multiple banding techniques it was identified as inv dup(15). BUdR incorporation was used to determine the lateral asymmetry of the marker, which consisted of 2 distal spots arranged contralaterally, consistent with DNA polarity conservation in chromosome rearrangements.
Pulmonary arteriovenous malformations related to Rendu‐Osler‐Weber syndrome
Authors: McCue Carolyn M. , Hartenberg Michael , Nance Walter E. 
Published: June 2005

AbstractInterest in Rendu‐Osler‐Weber (ROW) syndrome has been renewed because of new treatment for the pulmonary artery fistulae that occur in approximately one‐half of the patients. Pulmonary arteriovenous malformations (AVM) can be occluded safely by the transvenous placement of a silicone balloon thus avoiding the many potential complications of thoracotomy. Thirty‐three members of four generations of a family with ROW illustrate the varied manifestations of the syndrome and provide a basis for review of clinical findings and therapeutic approaches to the management of pulmonary AVMs during the last 25 years. Special attention is given to early detection and prevention of major complications. Since ROW syndrome is an inherited trait, informed genetic counseling is an important component of the overall management of families with this disorder.
Tetraploidy: A report of three live‐born infants
Authors: Scarbrough Paula R. , Hersh Joseph , Kukolich Mary K. , Carroll Andrew J. , Finley Sara C. , Hochberger Richard , Wilkerson Shirley , Yen F. F. , Althaus Becky W. 
Published: June 2005

AbstractWe present three live‐born infants with tetraploidy and compare them with two previously reported live‐born infants with the same genetic defect. Common anomalies noted included microcephaly; a prominent, narrow forehead; microphthalmia/anophthalmia; cleft palate; orthopedic anomalies; genital ambiguity; and abnormalities of the central nervous system, including pituitary hypoplasia. Together these constitute a rather characteristic phenotype. An error in cytoplasmic cleavage is theorized to be a mechanism for the chromosome anomaly and is supported by the presence of parental polymorphisms in one of our cases; however, the presence of a small percentage of tetraploid cells in the leukocytes and skin fibroblasts of this patien's mother does not exclude maternal mosaicism as the basis for polyploidy in certain instances.
Determination for different severity of anemia in thalassemia: Concordance and discordance among sib pairs
Authors: Fucharoen Suthat , Winichagoon Pranee , Pootrakul Pensri , Wasi Prawase 
Published: June 2005

AbstractThe degree of anemia in β°‐thalassemia/hemoglobin E disease is highly variable. As part of an attempt to identify determinants of this variability of severity we studied concordance and discordance of hemoglobin levels among sib pairs. The distribution of differences of hemoglobin levels in 216 sib pairs from 98 families showed a remarkable skewness toward the lower values with a mode at 0‐0.5 gm/dl. The prevailing concordance of hemoglobin levels in patients from the same families and the persistence of the patterns indicate that polygenic factors are mainly responsible for the variability of anemia in this disease.
Age structure and the distribution of rare genetic diseases
Authors: Yokoyama Shozo , Ward Richard H. 
Published: June 2005

AbstractEquilibrium frequencies of rare deleterious genes in an age‐structured population have been studied by using mathematical models. In the models, variable age‐of‐onset and variable penetrance of a trait have been incorporated. Numerical analyses show that the equilibrium gene frequencies can be approximated extremely well to those in nonoverlapping generations, as Haldane [1927] claimed. This property of rare deleterious genes in an age‐structured population is important because population dynamics of such genes in a finite population can be studied easily.
Multiple congenital anomalies/mental retardation (MCA/MR) syndrome due to interstitial deletion 1q
Authors: Steinbach P. , Wolf M. , Schmidt H. 
Published: June 2005

AbstractA severely retarded male infant was found to have a previously undescribed multiple congenital anomalies/mental retardation (MCA/MR) syndrome including microdolichocephaly, prominence of metopic suture, coarse scalp hair, epicanthus, anteverted nostrils, micrognathia, posteriorly angulated malformed auricles, preaxial hexadactyly, clinodactyly, camptodactyly, hypospadias, cryptorchidism, inguinal hernias, agenesis of left kidney, and pyloric stenosis. This syndrome was due to an interstital del(1)(q25.2q31.2) associated with a paracentric inv(1)(q31.2q44).
Namaqualand hip dysplasia: An autosomal dominant entity
Authors: Beighton Peter , Christy Gail , Learmonth I. D. 
Published: June 2005

AbstractA unique inherited skeletal disorder has been identified in 45 persons in five generations of a kindred of mixed ancestry in South Africa. Discomfort in the hip joints develops in childhood and the course is progressive, with handicap in middle age. General health is good, height is not reduced by any significant degree, and there is no nonskeletal involvement. The major changes are in the femoral capital epiphyses, which are flattened and fragmented; secondary degenerative arthropathy develops at a later stage. Platyspondyly of variable but mild degree is present in about 60% of affected persons. Other minor changes, including iliac exostoses, are present occasionally.Pedigree data indicate autosomal dominant inheritance, with a reasonably consistent phenotypic expression. In view of the geographic distribution of this condition we propose the designation “Namaqualand hip dysplasia” (NHD).
Testicular regression in a patient with virilized female phenotype
Authors: Rosenberg Carla , Mustacchi Z. , Braz A. , Arnhold I. J. P. , Chu T. H. , Carnevale J. , Frota‐Pessoa O. 
Published: June 2005

AbstractThe 16‐year old girl studied here had ambiguous external genitalia, ie, enlarged clitoris, pseudo vagina, and rudiments of Wolffian tubes. Her karyotype was 46, XY and she was H‐Y antigen‐positive. In spite of absence of gonadal tissue, genital virilization suggests presence of testes during embryogenesis. This patient is compared to 20 others with testicular regression from the literature. Autosomal‐recessive inheritance of this condition is proposed.
Growth retardation, Alopecia, Pseudo‐anodontia, and optic atrophy—The GAPO syndrome: Report of a patient and review of the literature
Authors: Tipton Robert E. , Gorlin Robert J. 
Published: June 2005

AbstractThe GAPO syndrome is a rare but distinct autosomal‐recessive disorder. The term GAPO is an acronym for the manifestations of Growth retardation, Alopecia, Pseudo‐anodontia (failure of tooth eruption), and progressive Optic atrophy. We are aware of five other published patients. All have a strikingly similar appearance. This, along with other distinct manifestations, should allow clear differentiation from other causes of growth retardation. The hypothesis of autosomal‐recessive inheritance is based on parental consanguinity and affected sibs in several cases.
Macrocephaly with hamartomas: Bannayan‐Zonana syndrome
Authors: Miles Judith H. , Zonana Jonathan , Mcfarlane Jean , Aleck Kirk A. , Bawle Erawati 
Published: June 2005

AbstractFamilial macrocephaly with mesodermal hamartomas is described as a distinct syndrome in nine individuals from four families. Constant manifestations include symmetrical macrocephaly without ventricular enlargement, mild neurological dysfunction, and postnatal growth deceleration. Speech and motor delays observed in all the children were usually well compensated by adulthood. Two children had mild mental retardation and seizures which may have been related to intracerebral hemorrhage in one. Mesodermal hamartomas were present in affected persons from all four families, with 60% of individuals manifesting only discrete lipomas and hemangiomas. More serious tumors, including intracerebral hemangiomas, hemangiomatous involvement of the bone, and aggressive lipomas occurred in 40%. Other findings that make it possible to delineate a recognizable syndrome include down‐slanting palpebral fissures (66%), a high palate (67%), joint hyperextensibility (55%), pectus excavatum (22%), strabismus or amblyopia (33%), and prolonged drooling (44%). The Bannayan‐Zonana syndrome is an autosomal‐dominant trait with male predominance of affected individuals.
Achondroplasia: Unexpected familial recurrence
Authors: Reiser Catherine A. , Pauli Richard M. , Hall Judith G. 
Published: June 2005

AbstractWe review six families in which recurrence of achondroplasia, inexplicable through autosomal dominant inheritance, has occurred. The clinical and radiographic characteristics of affected individuals in these families are identical to those usually seen in achondroplasia. Family histories and parental characteristics likewise seemed not to set this group apart from others with achondroplasia. While various mechanisms for these occurrences of achondroplasia in family members related through unaffected relatives can be postulated, the hypothesis that these recurrences were simply the result of two independent chance events cannot, at least for the moment, be excluded.
Mental retardation, unusual face, and intrauterine growth retardation: A new recessive syndrome?
Authors: Pitt D. B. , Rogers J. G. , Danks D. M. 
Published: June 2005

AbstractWe describe two mentally retarded sisters with intrauterine growth retardation and subsequent dwarfism and an unusal and characteristic face together with two other unrelated patients with similar manifestations. These four patients may represent a new autosomal recessive syndrome.
Effects of selection for serum cholesterol concentrations on serum lipid concentrations and body weight in baboons
Authors: Kammerer Candace M. , Mott Glen E. , Carey K. Dee , McGill, Henry C. 
Published: June 2005

AbstractWe examined the results of one generation of selection for serum cholesterol (SC) concentration on low density lipoprotein cholesterol (LDL‐C), high density lipoprotein cholesterol (HDL‐C), and triglyceride concentrations and weight in baboons (Papio cynocephalus). Parents of two lines (high SC response and low SC response) were chosen based on their SC response to a 4‐month challenge with a cholesterol and saturated fat enriched diet. Parents of the control line were chosen without regard for SC levels. Expression of SC, LDL‐C, and HDL‐C concentrations was moderately influenced by additive genetic effects as evidenced by the direct and correlated responses of the serum lipoprotein concentrations of the juvenile offspring of the three lines. Realized heritability of SC and genetic correlations of SC with LDL‐C and HDL‐C were moderate to high. Sex and age were important factors influencing expression of SC, LDL‐C, HDL‐C, trigylcerides, and weight in both adult baboons and their offspring.
Prenatal diagnosis and fetal pathology of aspartylglucosaminuria
Authors: Aula Pertti , Rapola Juhani , von Koskull Harriet , Ämmälä Pirkko 
Published: June 2005

AbstractThe prenatal diagnosis of aspartylglucosaminuria (AGU), a lysosomal storage disorder of glycoprotein degradation, was made by demonstrating the deficiency of N‐aspartylgucosaminidase on cultured cells from a midterm amniotic fluid sample. Four other amniotic fluid studies from at‐risk pregnancies gave a normal or a heterozygote level of enzyme activity. These pregnancies have gone to term and the delivery of healthy babies. The pregnancy with the affected fetus was terminated and the prenatal diagnosis was verified by enzyme assays on cord blood lymphocytes, cultured cells from skin biopsy, and from placental villi. Electron microscopic evidence of lysosomal storage was seen in several organs of the fetus with the notable exception of the central nervous system. The undifferentiated mesenchymal fibroblasts particularly were heavily loaded with cytoplasmic inclusions in skin, liver, kidney, and placenta.
FG syndrome in a premature male
Authors: Bianchi Dian W. 
Published: June 2005

AbstractA 30‐week premature male infant is presented with dolichocephaly, frontal bossing, down‐slanting palpebral fissures, hypertelorism, long philtrum, micrognathia, cleft palate, and imperforate anus. He is the fifth patient to be presented with FG syndrome and sensorineural deafness. The patient's syndromic manifestations became more obvious during an inpatient observation period of 3 months.
Homozygous NADH‐methemoglobin reductase and aspartylglucosaminidase deficiencies in a moderately retarded sicilian child
Authors: Musumeci S. , Salvati A. , Schiliró G. , Salvo G. , Di Dio R. , Caprari P. 
Published: June 2005

AbstractWe report on a 10‐year‐old boy with generalized deficiency of both NADH‐methemoglobin reductase and aspartylglucosaminidase. Althoug the two enzymatic defects, both autosomal recessive traits, are associated with severe mental retardation, the patient was less retarded than his sister who had only aspartyl‐glucosaminuria.
Are the occasional aneuploid cells in peripheral blood cultures significant?
Authors: Wenger Sharon L. , Golden Wendy L. , Dennis Suzanne P. , Steele Mark W. 
Published: June 2005

AbstractCytogenetic results of 1,500 consecutive clinical cases from a young population were analyzed for rare cells with hypermodality (≥ 47 chromosomes) or hypomodality (≤ 45 chromosomes). Such instances of non‐modal chromosome gains or losses were random relative to referral diagnosis or modal karyotype. However, chromosome loss was correlated with size, smaller chromosomes being lost more frequently (correlation coefficient = 0.794). Sex chromosome gain or loss in vitro was of particular interest since mosaicism in vivo is frequently found in patients presenting with manifestations of Turner or Klinefelter syndrome. Cases with a referral diagnosis of sex chromosome abnormality showed no increased gain or loss of an X or Y chromosome when compared to other types of clinical cases. Our analyses suggest that when one non‐modal cell is found with a gain or loss of a chromosome relevant to the referral diagnosis, then the results on a count of 40 cells should differentiate in vitro artifact from probable in vivo mosaicism with 95% degree of confidence.
Rh immune globulin after genetic amniocentesis: Impact on pregnancy outcome
Authors: Crane James P. , Rohland Barbara , Larson Dale 
Published: June 2005

AbstractAlthough Rh immune globulin is commonly given to Rh‐negative women undergoing genetic amniocentesis, there is little documentation of the necessity, efficacy, or safety of this policy. In this study, reproductive outcomes in 147 women each receiving 150 μg of Rh immune globulin after genetic amniocentesis were compared with those of an equal number of Rh‐positive amniocentesis control women. No significant differences were found in the incidence of midtrimester pregnancy loss, mean gestational age at delivery, mean birth weight, or frequency of preterm deliveries (P > 0.05 for all parameters). While two antepartum stillbirths occurred in the study group and none in the control population, causes unrelated to Rh immune globulin administration were apparent for both fetal deaths (one multiple congenital anomaly syndrome, one abruptio placentae at 38 weeks). Of the 103 Rh‐negative women giving birth to Rh‐positive infants, none were overtly sensitized at the time of delivery. It is concluded that second trimester Rh immune globulin administration does not increase the risk of pregnancy loss.
Introduction to the study of pre‐and postnatal growth in humans: A review
Authors: Mendez Heirie , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractThis review is divided in several items. A brief introduction on the characterization of the growth processes is made; the ways of assessing fetal development and well‐being, the factors acting on fetal growth and birth weight, the causes and post‐natal consequences of prematurity and intrauterine growth retardation are discussed in the first part. The following items deal mainly with: the normal pattern of growth from birth to puberty according to sex, race, and nutritional status, with special mention to pubertal changes; methods for predicting adult height from skeletal age; the effect of hormones during pre‐ and post‐natal life; and the genetics of adult stature.The remainder of this review deals with genetic causes of growth abnormalities. Constitutional delay of growth, familial short stature, hypothalamic‐pituitary dwarfism, skeletal dysplasias and many genetic syndromes presenting intrauterine growth retardation are listed. Aneuploidy effects on human growth are extensively reviewed, and usual growth patterns in Down and Ullrich‐Turner syndrome patients as well as other sex aneuploid individuals and mosaics are fully described. The influences of X and Y chromosomes on growth and maturation are also discussed. Finally, some remarks are made about overgrowth syndromes.
Tandem duplication of proximal 22q: A cause of cat‐eye syndrome
Authors: Reiss Jacob A. , Weleber Richard G. , Brown Michael G. , Bangs Charles D. , Lovrien Everett W. , Magenis R. Ellen , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractA boy with bilateral colobomas, preauricular pits, and developmental delay had a 46, XY, 22q + karyotype. His parents had normal chromosomes. The abnormality of 22q was interpreted as a de novo tandem duplication of 22q11.1 → q11.2. Although no anal abnormality was identified, his manifestations are otherwise consistent with those of the cat‐eye syndrome. Blood marker results and the levels of galactosidase‐2, galactosidase‐B and arylsulfatase‐A, which are known to be coded on 22q, are normal.
De novo 21q interstitial deletion in a retarded boy with ulno‐fibular dysostosis
Authors: Reynolds James F. , Wyandt Herman E. , Kelly Thaddeus E. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractA 9‐year‐old boy was referred for evaluation of multiple anomalies and mental retardation. Skeletal abnormalities had been noted at birth: joint contractures, right acetabular “dysplasia,” ulno‐fibular dysostosis, and bilateral talipes equinovarus with calcaneocuboid fusion. Additional findings at 9 years included short stature, unusual facial appearance, camptodactyly of several digits, undescended testes, and syndactyly of toes 4 and 5. On psychological testing he was found to be moderately retarded. Cytogenetic analysis of chromosome bands using Q, GTG, R, and C banding showed an interstitial deletion of 21q; karyotype designation: 46, XY, del (21) (pter→q11.2::q22.1→qter). Parental chromosomes were normal. Manifestations in this boy, including the joint contractures, are similar to those described in the monosomy 21 syndrome. Ulno‐fibular dysostosis has not been reported previously with abnormalities of chromosome 21. To our knowledge, this is the second patient reported with an interstitial deletion of chromosome 21, and the patients are phenotypically dissimilar.
Paternity testing. 2: Likelihood ratio tests
Authors: Kaiser L. , Seber G. A. F. 
Published: June 2005

AbstractIt is known that the so‐called paternity index is also a likelihood ratio statistic for testing that an alleged father is the true father. Unfortunately the likelihood ratio test can sometimes lead to unsatisfactory results because of its dependence on the phenotype combinations of the mother and child. A new, conditional likelihood ratio test, which we call the ancillary test, is proposed in which statistical testing is carried out conditionally on the phenotypes of the mother and alleged father. An exact procedure is available which can be executed with reasonable facility on a microcomputer.
Transmitting balanced translocation carrier information within families: A follow‐up study
Authors: Suslak Lorraine , Price David M. , Desposito Franklin , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractApproximately 1 of 500 individuals is a carrier of a balanced chromosome translocation. Since many translocations are inherited, many (but not all) relatives of carriers have a need to be informed of their potential carrier status. Presently, no data are available as to what extent individuals identified as balanced carriers inform at‐risk relatives of the problem.We interviewed 12 balanced translocation carriers to learn whether such information had been transmitted to relatives. The 12 propositi had 36 surviving sibs and 21 surviving parents. Of the 36 sibs, 32 were informed of their risk. The four sibs not informed were from two families. Only 16 of the 32 informed sibs had subsequent carrier testing. Of the 21 surviving parents, 14 were told by their children of their carrier status; subsequently, three parent couples were tested.This survey provides data showing that individuals do not always discolose genetic risk information to relatives. Therefore, genetic professionals need to determine if they have a duty to transmit such information to at‐risk relatives in light of the harm that may occur when informatin is withheld.
Syndrome of amelogenesis imperfecta, nephrocalcinosis, impaired renal concentration, and possible abnormality of calcium metabolism
Authors: Lubinsky Mark , Angle Carol , Marsh P. Wayne , Witkop C. J. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe describe a brother and sister with amelogenesis imperfecta, nephrocalcinosis and impaired renal concentrating ability. This is the second sibship reported, further substantiating autosomal recessive inheritance of this condition. There is lack of enamel, lifelong nocturnal enuresis, progressive punctate nephrocalcinosis, and decreased calcium and phosphate excretion over 24 hours and after an acute load. Increased serum osteocalcin and decreased urine δ‐carboxiglutamic acid suggest involvement of vitamin K‐dependent calcium binding proteins, although this may represent a secondary finding. No other evidence of abnormal calcium metabolism was found. Renal function is stable in the early teens, but the previously reported patients went on to renal failure.
Oto‐palato‐digital syndrome, type II—an X‐linked skeletal dysplasia
Authors: Brewster Thomas G. , Lachman Ralph S. , Kushner David C. , Holmes Lewis B. , Isler Robert J. , Rimoin David L. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on two male infants with a lethal skeletal dysplasia characterized by cleft palate, midface hypoplasia, downward‐slanting palpebral fissures, small thorax, and bowed limbs with absent fibulae. The clinical and radiographic changes are similar to those seen in the recently proposed oto‐palato‐digital syndrome, type II [Fitch et al, 1983]. The disorder is X‐linked with heterozygous females being more mildly affected.
Deletions of proximal 15q and non‐classical Prader‐Willi syndrome phenotypes
Authors: Schwartz S. , Max S. R. , Panny S. R. , Cohen M. M. , Optiz John M. , Reynolds James F. 
Published: June 2005

AbstractA deletion of the long arm of chromosome 15 (usually involving bands 15q 11‐q12) has been seen in approximately 50% of Prader‐Willi syndrome (PWS) patients [Ledbetter et al, 1982]. However, 14 patients with non‐PWS (or atypical PWS) phenotype with 15q deletion indicate great clinical variability. A deletion was found in a propositus with a de novo translocation [45, XY,−15, −22, +rec(15;22)(22pter → 22q13.2::15q14 → 15qter)], who had anomalies not normally observed in PWS patients. Activities of several enzymes mapped to the involved chromosomes were studied in the patient and control individuals. A 50% decrease in the level of arylsulfatase‐A confirmed a small deletion in 22q(22q13.2 → qter), and additional studies localized more precisely the loci for α‐mannosidase (cytoplasmic) and β‐galactosidase.