bluuebunny/crossref_metadata_2025_split huggingface dataset:
Prenatal diagnosis of the Beckwith‐Wiedemann syndrome
Authors: Winter Susan C. , Curry Cynthia J. R. , Smith J. Charles , Kassel Stephen , Miller Linda , Andrea Janet , Reynolds James F. 
Published: June 2005

AbstractWe report on the prenatal diagnosis of Beckwith‐Wiedemann syndrome (BWS) in a pregnancy monitored because of a previously affected child. The proposita had classical stigmata of BWS including macroglossia, omphalocele, and typical ear creases. Chromosomes were 46,XX. Both parents and the extended maternal family were clinically normal. In a subsequent pregnancy by another father, the mother had serial ultrasound monitoring at 13.5, 18, and 19 weeks gestation which showed an enlarged abdominal circumference and a 2‐cm omphalocele. At termination the female fetus weighed more than two times the expected weight, had striking hypertrophy of skeletal muscles, a protuberant abdomen, and a 2‐cm omphalocele and characteristic facial appearance. Autopsy confirmed generalized organomegaly. This is the first report of the prenatal diagnosis of BWS prior to 20 weeks in an at‐risk family. The recurrence in this family emphasizes the difficulty in providing accurate genetic recurrence risks in BWS and suggests that ultrasonographic prenatal diagnosis should be offered to families even when the case appears to be “sporadic”.
An autosomal recessive mental retardation syndrome with hepatic fibrosis and renal cysts
Authors: Thompson Elizabeth , Baraitser Michael , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractTwo sisters had developmental retardation and congenital hepatic fibrosis. One, 23 years old, had facial anomalies reminiscent of Smith‐Lemli‐Opitz syndrome, ocular coloboma, and hypoplastic kidneys with a single cyst. The other sister died at 18 months and had an encephalocele and cystically dilated collecting ducts in the renal medulla. Although the manifestations in these two sisters are similar to the Smith‐Lemli‐Opitz and Meckel syndromes respectively, there are sufficient differences to suggest that they had a separate autosomal recessive MCA‐MR syndrome.
Distal deletion of the long arm of chromosome 6: A specific phenotype ?
Authors: Fryns Jean‐Pierre , Bettens Walter , Berghe Herman Van Den , Reynolds James F. 
Published: June 2005

AbstractWe report on an8‐month‐old girl with a de novo 5q/6q autosomal translocation with loss of the distal part of the long arm of chromosome 6 (6q23.3→6qter); clinical manifestations are peculiar craniofacial stigmata, truncal obesity and persisting hypotonia.The similarity with a previously reported patient with 6q interstitial deletion is discussed.
The differential symptomatology of errors of collagen metabolism: A tentative classification
Authors: Maroteaux Pierre , Frézal Jean , Cohen‐Solal Lola , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe address the confusion in the current classification of inherited disorders of collagen and the excessive extension of the concept of the Ehlers‐Danlos „syndrome”︁ that tends to cover many facts and conditions frequently without strong clinical connection.We propose to subdivide the collagen disorders into four main classes depending on whether skin, joints, bone, or blood vessels are mainly involved. The class with mainly skin involvement includes the different forms of cutis laxa, Ehlers‐Danlos syndrome types I and II (autosomal dominant), types V and IX (X‐linked recessive), type VI (autosomal recessive), and type VIII (autosomal dominant). The group with mainly articular involvement includes Larsen and related syndromes and other types with a more benign course. The conditions with mainly skeletal involvement include the different forms of osteogenesis imperfecta. The class with mainly blood vessel involvement includes disorders of type III collagen and the Marfan syndrome.This tentative classification proposes a logical clinical framework that will allow easier integration of molecular biology data.
Distal arthrogryposis type II: A family with varying congenital abnormalities
Authors: Reiss J. A. , Sheffield L. J. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractFive family members with distal arthrogryposis in two generations are reported. Cleft lip and palate, micrognathia, ptosis, webbed neck, kyphoscoliosis, and short stature are seen in one or more affected family members. All individuals with distal arthrogryposis also have trismus. This family does not fit any of the recently proposed five subcategories of type II distal arthrogryposis, nor does it fit any other recognized autosomal dominant condition with distal contractures.
Role of chromosome aberrations in recurrent abortion: A study of 269 balanced translocations
Authors: Campana Mauro , Serra Angelo , Neri Giovanni , Reynolds James F. 
Published: June 2005

AbstractWe have studied a sample of 5,445 couples in which the woman was ascertained to have had two or more spontaneous abortions: 396 from our Cytogenetics Unit (present series) and 5,049 from the literature (literature series). In approximately 5% of these couples one of the members was a carrier of a balanced translocation, either reciprocal (⅔ of cases) or Robertsonian (⅓). In 1% of the couples there were other chromosome anomalies, mostly gonosomal aneuploidies or mosaicisms. A pericentric inversion of the heterochromatic region of chromosome 9 was present in 3% of the couples of the present series and in 1% of the literature series. The number of female carriers exceeded significantly that of males. The probability for one member of the couple to be a carrier increased with the number of abortions at the time of ascertainment, but it does not seem modified by the concomitant presence of term pregnancies. The analysis of the cytogenetic findings in 80 cases of Robertsonian and 156 cases of reciprocal translocations suggests that some chromosomes are preferentially involved, and that in reciprocal translocations the breakpoints are not distributed at random on the chromosome arms. There is an excess of breakpoints on chromosomes 6, 7, and 22 and a dearth on chromosome 12. This distribution is significantly different from that of a sample of reciprocal translocations ascertained for a malformed child. In both samples the breakpoints seem associated with fragile sites more frequently than expected by chance. An analysis of the potential and effective chromosome imbalance suggests that in subjects with unbalanced chromosomes survival is correlated with a minimum imbalance.
Interstitial deletion of (17)(p11.2p11.2) in nine patients
Authors: Smith Ann C. M. , McGavran Loris , Robinson Jeannie , Waldstein Gail , Macfarlane Jean , Zonona Jon , Reiss Jacob , Lahr Martin , Allen Leland , Magenis Ellen , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe describe a new and distinct syndrome involving an interstitial deletion of the short arm of choromosome 17 in nine unrelated patients (six males; three females) ranging in age from 3 months to 65 years. In eight patients, a deletion of a portion of band 17p11.2 was associated with a striking similar phenotype including brachycephaly, midface hypoplasia, prognathism, hoarse voice, and speech delay with or without hearing loss, psychomotor and growth retardation, and behavior problems. The one patient with a complete deletion of band 17p11.2 was more severely affected with facial malformations, cleft palate, and major anomalies of cardiac, skeletal, and genitourinary systems; the patient died at age 6 months. Careful cytogenetic analysis including high‐resolution techniques will be important for the further identification of patients with this previously unrecognized deletion syndrome.
Follow‐up of infants with amniotic fluid trisomy 20 mosaicism
Authors: Abuelo Dianne N. , Barsel‐Bowers Gail , Zartler Ann S. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractThe finding of trisomy 20 mosaicism in amniotic fluid is a cause of considerable anxiety for both physicians and parents. Although the significance of this finding is still not clear, some reassurance can be given to prospective parents, since the outcome has been normal in all reported pregnancies carried to term. Follow‐up information on psychomotor development of these infants is needed in order to provide better genetic counseling to these families. We have followed three infants who have had normal growth and psychomotor development up to approximately 2 years.
The prenatal growth of the human body determined by the measurement of bones and organs by ultrasonography
Authors: Elejalde B. Rafael , De Elejalde Maria Mercedes , Opitz John M. , Reynolds James F. , Hall Judith G. 
Published: June 2005

AbstractThis paper presents the ultrasonographic analysis of the growth of two groups of human fetuses, one longitudinal and the other cross‐sectional. Measurements of all the long bones were taken, as well as measurements of the folowing diameters: Biparietal, occipitofrontal, thoracic and abdominal anterior/posterior and transverse, spinal canal width, arm, forearm, thigh and leg transverse. The bladder and the stomach were also measured. The pregnancies analyzed covered the period between the 8th and 38th week of gestation. Centiles (3rd‐97th) were calculated for each structure and week. All pregnancies known or suspected to be abnormal were removed from the study. The values obtained were tested in 102 pregnancies (test group); the expected values (from the graphs) did not deviate from the values obtained from this group of fetuses, demonstrating the reliability of the values presented in these graphs. All structures measured showed linear growth. There was no significant difference between the longitudinal and cross‐sectional groups.
Spondylocostal/spondylothoracic dysostosis: The clinical basis for prognosticating and genetic counseling
Authors: Aymé Ségolène , Preus Marilyn , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractShort trunk dwarfism involving skeletal anomalies of vertebrae and ribs have been reported under various names. Both dominant and recessive and severe and mild conditions are found. We report on a patient without a severe handicap by age 3 years despite severe involvement of the thorax at birth, suggesting that a more complete classification of such anomalies is needed for counseling. We have used an objective method to classify 39 informative patients from the literature, 35 said to have a recessive disease and four a dominant one. Two patients with the costovertebral segmentation defect with mesomelia (COVESDEM) syndrome were added for comparison with our patient. The results of cluster analysis show that there are three phenotypic groups of patients. Cluster 1 contains 19 patients with a severe form of spondylothoracic dysplasia; cluster 2 includes patients with a mild autosomal recessive and a dominant type; cluster 3 groups the two sibs with the COVESDEM syndrome and our patient. One must be cautious in advising families of the prognosis for a child with severe structural chest deformity since it may not be severe from a functional point of view. More data are needed for complete discrimination between the mild autosomal recessive and dominant forms.
Animal model: The mode of inheritance of craniomandibular osteopathy in west highland white terrier dogs
Authors: Padgett George A. , Mostosky Ulreh V. , Prieur David J. 
Published: June 2005

AbstractCraniomandibular osteopathy is a disease of several breeds of dogs, principally West Highland White and Scottish terriers. It is characterized by a non‐neoplastic proliferation of bone on the ramus of the mandible and/or the tympanic bulla. The disease in various respects resembles Paget's disease and infantile cortical hyperrostosis of humans. A retrospective pedigree analysis of a kindred of West Highland White terriers was performed to determine if the trait was inherited and to determine mode of inheritance. This study indicated that in West Highland White terriers, the condition is an autosomal recessive trait.
Torts of wrongful birth and wrongful life: A review
Authors: Pelias Mary Z. , Shaw Margery W. 
Published: June 2005

AbstractDuring the past half century reproductive and prenatal technologies have become increasingly sophisticated and accessible to the public. As prospective parents have become more knowledgeable about the various reproductive options available, there has evolved a body of jurisprudence that has defined and defended the exclusive right of individuals to make their own decisions about conceiving and bearing children. This right is now protected under the constitutional umbrella of the right to privacy. If this right is violated through the negligence of one or more health care providers, the allegedly injured parents may sue for the wrongful birth of an unplanned or a defective child. Similarly, a defective child may sue for wrongful life. Both plaintiff parents and plaintiff child seek to recover monetary damages as compensation for their alleged injuries. In wrongful birth cases judicial opinions have moved from an earlier “blessings rationale” through a series of “benefits” cases toward more recent “burdens” decisions. In early suits for wrongful life the courts often held that the child had no valid cause of action and could therefore not be heard in court. More recently, however, some courts have recognized the validity of actions for wrongful life and have decided in favor of the defective children. The most recent judicial decisions suggest that courts may be following a trend to decide in favor of plaintiff parents and children at the expense of the defendant health care providers.
Midtrimester sonographic diagnosis of mandibulofacial dysostosis
Authors: Crane James P. , Beaver Heidi A. , Reynolds James F. 
Published: June 2005

AbstractTwo fetuses at risk for mandibulofacial dysostosis (MFD) were monitored sonographically during the midtrimester of pregnancy. Normal facial and auricular structure were identified in one fetus, and a healthy infant was subsequently delivered. Severe microtia and micrognathia were apparent in the second fetus and a diagnosis of MFD was made and confirmed at delivery. These observations indicate that midtrimester sonographic diagnosis of severe MFD is possible.
Robin sequence and oligodactyly in mother and son
Authors: Robinow M. , Johnson G. F. , Apesos J. , Reynolds James F. 
Published: June 2005

AbstractA combination of the Rabin sequence with pre‐ and postaxial oligodactyly was observed in a mother and her son. This familial association has not been reported before and probably represents a previously unrecognized heritable malformation syndrome.
Molecular detection of carriers of hereditary amyloidosis in a Swedish‐American family
Authors: Wallace Margaret R. , Conneally P. Michael , Long George L. , Benson Merrill D. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractAutosomal dominant amyloidosis, also known as familial amyloidotic polyneuropathy (FAP), is a late‐onset disorder associated with variants of the protein prealbumin. In FAP Type I, the variant contains a single amino acid substitution at position 30 in the subunit. This substitution corresponds to a single base change in the gene, coincidentally creating a new site for the restriction enzyme Nsil. This change is detectable in the DNA of gene carriers with restriction fragment length polymorphism (RFLP) methods. A well‐characterized American family of Swedish origin was studied by this method using a prealbumin cDNA. The RFLP data were found to correlate with previous biochemical characterization of the prealbumin in this family, indicating that this test represents a reliable way to directly detect the DNA mutation responsible for the condition. This test can be used for preclinical diagnosis of gene carriers, including prenatal diagnosis.
Prenatal growth of the median face
Authors: Siebert Joseph R. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractThe growth and development of the median facial region remain incompletely understood. Data concerning the prenatal size and growth rates of facial components are especially lacking. A group of fetuses and newborn infants with apparently normal craniofacial development and body size was therefore studied at autopsy. The interorbital distance and dimensions of the external nose, philtrum (upper lip), and mouth were determined; the growth of morphogenetically related structures—the ethmoid bone and tongue—was also studied. The slopes of linear regressions of these variables against body length indicated that growth of the median facial region proceeds slowly in the latter half of gestation. The center of the face seems to grow slower than the sides of the face. A multivariate technique, factor analysis, identified and ordered relationships among the variables. The best statistical summary of size in the median face was given by four transversely oriented variables, nose breadth, outer orbital distance, inner canthal distance, and mouth width. Within the region, a secondary cluster was dominated by sagittally oriented variables. The second best summary of median facial relationships was provided by three variables of lingual size and was followed by a group of variables representing ethmoidal size. This pattern of growth may represent the effects of a developmental hierarchy. Growth seems to be coordinated along the major axes of the body, with transverse growth controlled more rigidly than sagittal growth. The statistical independence of the three regions suggests that the controls of growth are also separate.
The meiotic segregation of human sperm chromosomes in two men with accessory marker chromosomes
Authors: Martin Renee H. , Hildebrand Kathy A. , Yamamoto Judy , Peterson Dianna , Rademaker Alfred W. , Taylor Patrick , Lin C. C. , Opitz John M. 
Published: June 2005

AbstractAccessory marker chromosomes are occasionally discovered in normal individuals and they are presumed “clinically inert” since they do not appear to have any phenotypic effect. However, they do pose a theoretical risk at meiosis since they could disrupt the normal pairing and disjunction of homologous chromosomes. Sperm chromosome complements have been studied in two normal males, each of whom carry a small bisatellited accessory marker chromosome 47,XY,+mar (psps), to determine if these marker chromosomes are associated with an increased frequency of aneuploid gametes. Pronuclear chromosomes were visualized after in vitro fertilization of golden hamster eggs with human sperm.The frequency of sperm complements containing a marker chromosome was not significantly different from 50% as theoretically expected, in either male (17/43 and 13/31 with marker chromosomes). One male had 2/43 (4.7%) aneuploid sperm, which is very close to the average frequency of aneuploid sperm seen in control donors (5%). The other male had 6/31 complements with chromosomal abnormalities. One set of sperm chromosomes had structural abnormalities, and five (16.1%) had numerical abnormalities. This frequency of aneuploidy is significantly elevated over the frequency seen in control donors (P = .0002). It is particularly interesting that all the abnormalities involved small chromosomes, as would be expected if the marker chromosome participated in distributive pairing and thereby disrupted normal disjunction of chromosomes of similar size. These preliminary results suggest that accessory marker chromosomes may increase the risk of aneuploid gametes in some individuals.
Familial growth hormone deficiency resulting from a 7.6 kb deletion within the growth hormone gene cluster
Authors: Braga Suzanne , Phillips John A. , Joss Etienne , Schwarz Hanspeter , Zuppinger Klaus , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on two sibs with familial isolated growth hormone deficiency (IGHD) resulting from homozygosity for a 7.6 kb deletion within the growth hormone gene cluster. The deletion not only affects the structural gene for growth hormone (GH‐N) but also alters sequences adjacent to the chorionic somatomammotropin‐like (CS‐L) gene. In contrast to previously reported cases with IGHD type IA, our two patients responded well to growth hormone substitution and formation of blocking antibodies did not occur.
Gardner syndrome in a man with an interstitial deletion of 5q
Authors: Herrera L. , Kakati S. , Gibas L. , Pietrzak E. , Sandberg A. A. , Reynolds James F. 
Published: June 2005

AbstractChromosome analysis of blood cells from a 42‐year‐old white male with mental retardation, colon carcinoma, horseshoe kidney, absence of left lobe of the liver, agenesis of the gallbladder, and possible Gardner syndrome revealed a constitutional marker chromosome due to del(5)(ql3q15) or del(5)(q15q22). A polymorphic chromosome #22 with enlarged satellites was inherited from the father, who is phenotypically normal, and was probably unrelated to the congenital malformations. This is the first report of a Gardner syndrome patient with an interstitial deletion of 5q.
Detecting abnormal human chromosome constitutions by dual laser flow cytogenetics
Authors: Lebo Roger V. , Golbus Mitchell S. , Cheung Mei‐Chi , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractOur custom dual laser chromosome sorter has been used to characterize and isolate metaphase human chromosomes rapidly for gene mapping purposes. Herein, we tested how well this system could detect unknown abnormal human chromosome constitutions. These results were compared to those of conventional cytogenetic analyses by banding and photomicrography. The sorter was used to analyze each cell line stained with two different stain pairs: DIPI‐chromomycin and Hoechst‐chromomycin. In 20 min, two histograms representing 2 × 105 chromosomes each were collected for each stain pair. A blind study of 11 samples by flow analysis demonstrated excellent concordance between the abnormal chromosomes detected and the diagnoses of Giemsa‐banded karyotypes. Aneuploidy was identified by changes in the number of chromosomes in each histogram peak, while rearrangements such as deletions and translocations caused shifts in the histogram peak positions. The direction and distance of histogram peak shifts are directly related to alterations in chromosome size and banding pattern. We conclude that dual‐laser flow analysis may provide a rapid approach to the screening and diagnosis of chromosome abnormalities.
Zimmerman‐Laband syndrome and profound mental retardation
Authors: Chodirker Bernard N. , Chudley Albert E. , Toffler Milada A. , Reed Martin H. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractA young man was diagnosed as having Zimmerman‐Laband syndrome (ZLS) on the basis of gingival fibromatosis and absence of nails on thumbs and halluces in addition to other anomalies. He also had profound mental retardation.
Lethal multiple pterygium syndrome: Report of a new case with hydranencephaly
Authors: Mbakop A. , Cox J. N. , Störmann C. , Delozier‐Blanchet C. D. , Neri Giovanni 
Published: June 2005

AbstractA 28‐week male fetus with the cardinal signs of the lethal multiple pterygium syndrome (multiple pterygia, congenital joint contractures, lung hypoplasia, facial abnormalities, and hydrops) is reported here. In addition, he had hydranencephaly, an anomaly not yet reported in this group of conditions. This potentially new form of the lethal multiple pterygium was detected prenatally by ultrasound examination. In discussing the case, we consider the probable autosomal recessive inheritance pattern and raise questions about the etiology and heterogeneity of this syndrome.