bluuebunny/crossref_metadata_2025_split huggingface dataset:
Maternal age and down syndrome: Age‐specific incidence rates by single‐year intervals
Authors: Trimble Benjamin K. , Baird Patricia A. , Opitz John M. 
Published: June 2005

AbstractMaternal age‐specific risks of giving birth to a child with the Down syndrome (DS) are given by single‐year age intervals. Such data are of value for more precise genetic counseling and in cost‐benefit analyses of prenatal diagnosis programs. The data were obtained by linking records of children with DS at the British Columbia Health Surveillance Registry (BCHSR) to the appropriate birth registrations to derive maternal ages. The data related to 519 affected children out of a total of 354,880 live births in British Columbia between 1961 and 1970. The results, which are based on a high level of ascertainment, are compared to those reported in the only other published study relating to risks by single‐year maternal age groupings, where completeness of ascertainment was estimated to be only 38%.
A goodness‐of‐fit test for the polygenic threshold model: Application to pyloric stenosis
Authors: Gladstien Keith , Lange Kenneth , Spence M. Anne , Murphy Edmond A. 
Published: June 2005

AbstractA new test of goodness of fit for the polygenic threshold model is proposed. This test, when applied to disorders showing different incidence rates in males and females, is designed to account for ascertainment in more detail than previously done by other investigators. This is accomplished by computing the expected distribution of nuclear families with more than one affected sib conditioned on several family‐dependent variables, including whether each family was ascertained via only affeted boys or via at least one affected girl. A direct measure of the probability of observing a data set is thereby derived. The test, when applied to data on pyloric stenosis, exposes the critical nature of the ascertainment procedures. Different levels of statistical significance are obtained when mode of ascertainment is taken into account than when the mode of ascertainment is ignored.
Acute leukemia associated with trisomy 8 mosaicism and a familial translocation 46,XY,t(7;20)(p13;p12)
Authors: Riccardi Vincent M. , Humbert James R. , Peakman David , Herrmann J. 
Published: June 2005

AbstractA patien is shown to have acute granulocytic leukemia, bone marrow mosaicism, and cutaneous fibroblast mosaicism for trisomy 8, an inherited reciprocal translocation involving the short arms of chromosomes 7 and 20, and a family history of cancer. A normal sister who had the same balanced chromosome translocation was evaluated for a preleukemic state; the results were unremarkable. The inherited translocation and postzygotically derived trisomy 8 are thought to represent additive factors contributing to the development of leukemia in the patient.
Phenotypic overlap of the BBB and G syndromes
Authors: Cordero José F. , Holmes Lewis B. , Opitz John M. 
Published: June 2005

AbstractThree males with similar malformations including hypertelorism, telecanthus, cleft lip and palate, and hypospadias, have been evaluated. One also had a laryngotracheoesophageal cleft and therefore was considered to have the G syndrome. The other two had no stridor, aspiration, or difficulty swallowing, and were considered to have the BBB syndrome. Both disorders are associated with multiple malformations and can be most readily distinguished by the presence of laryngoesophageal abnormalities in the G syndrome and differences in facial features evident later in childhood. The BBB syndrome appears to be inherited as an X‐linked disorder with the affected female showing only telecanthus and hypertelorism. The G syndrome exhibits autosomal dominant inheritance with males more severely affected, although a few few females have had serious malformations in addition to telecanthus and hypertelorism. In the family with the G syndrome evaluated for this report, the mother of the affected infant had telecanthus, hypertelorism, and anosmia, the latter a feature not previously noted in this disorder.
Mosaicism in amniotic fluid cell cultures: Classification and significance
Authors: Hoehn Holger , Rodriguez Maria L. , Norwood Thomas H. , Maxwell Clare L. , Francke Uta 
Published: June 2005

AbstractThe last decade has witnessed increasing application of human cytogenetic technology to prenatal chromosome analysis. However, unlike the rather uniform peripheral blood T‐lymphocyte system which has provided most of our experience in human cytogenetics, long‐term amniotic‐fluid cell cultures display extreme cellular heterogeneity and disproportionate growth of certain cell types as a consequence of clonal amplification. When they enter cell culture, many of these cells are approching the terminal stages of their respective life spans and may have accumulated chromosomal aberrations. Concern about the possibility of true fetal mosaicism seems warranted chiefly in situations were multiple colonies display potentially viable aberrations. Clonal analysis, preferable of multiple clonal types, and attention to details of clonal morphology are likely to minimize diagnostic errors and undue apprehension resulting from mosaicism in amniotic‐fluid cell cultures.
The Dubowitz syndrome
Authors: Wilroy R. S. , Tipton R. E. , Summitt R. L. , Opitz John M. 
Published: June 2005

AbstractThe Dubowitz syndrome is an autosomal recessive condition of intrauterine growth retardation, postnatal growth retardation, microcephaly, characteristic facial appearance, high‐pitched hoarse voice, and borderline intelligence or mild mental retardation. Cleft palate may occur as well as hypospadias, cryptorchidism in affected males, and mild limb defects. The 13 cases reported in the European literature and eight personally examined patients are reviewed.
Anatomical analysis of the developmental effects of aneuploidy in man—the 18‐trisomy syndrome: II. Anomalies of the upper and lower limbs
Authors: Ramirez‐Castro José L. , Bersu Edward T. , Pettersen James C. 
Published: June 2005

AbstractWe report the anatomical variations of the limbs in eight infants with the trisomy‐18 syndrome that were dissected and studied in detail. In each case, the upper limbs showed defects which further define the specific influence of this aneuploidy on the development of its preaxial (radial) component, and the tendency towards reduction defects. Abnormalities included muscle variations concentrated along the radial margin of the forearm and hand, the absence of the definitive musculocutaneous nerve in all of the limbs, and reductions of the radial artery in four of the bodies. Pathogenetic mechanisms explaining the observed defects are discussed, and include: 1) a defect in peripheral nerve development; or 2) tissue necrosis.The characteristic flexion deformities of the fingers seem to be due to a displacement of the tendons of extensors digitorum and digiti minimi.The lower limbs did not show a consistent pattern of defects, except for the absence of some muscles (psoas minor, the tendon of flexor digitorum brevis to digit V), and the presence of several supernumerary muscles. These variations are discussed as possible nonspecific effects of 18‐trisomy on development.The additional anatomical data from this and the first paper in this series [Bersu and Ramirez‐Castro, 1977] provide a more detailed picture of the trisomy‐18 phenotype which may be useful in corroborating an unconfirmed clinical diagnosis of the syndrome.
Hypoplastic left heart in a patient with 45,X/46,XX/47,XXX mosaicism
Authors: Bidot‐López Pascual , Matisoff David , Talner Norman S. , Hsia Y. Edward , Hall Judith G. 
Published: June 2005

AbstractRecurrence risks for primary congenital heart lesions are well defined. An infant with hypoplastic left heart syndrome is observed to have a short neck with a full skin fold on the right side, unilateral single palmar crease, and whorls on all ten fingers. She was found to have the Ullrich‐Turner syndrome with mosaicism 45,X/46,XX/47,XXX. We believe the cardiac malformation was secondary to her aneuploidy. This could have important implications for prediction of recurrence risks to the parents. Chromosomal tests may be indicated for infants were severe congenital cardiac lesions, based on subtle clinical findings.
Prenatal cytogenetic diagnosis: First 1,000 successful cases
Authors: Hsu Lillian Y. F. , Kaffe Sara , Yahr Felice , Serotkin Andrea , Giordano Frances , Godmilow Lynn , Kim Hyon J. , David Karen , Kerenyi Thomas , Hirschhorn Kurt , Opitz John M. 
Published: June 2005

AbstractFrom February 1969 to August 1976, we studied 1,048 amniotic fluids. Of these, 958 (91.4%) were primarily for prenatal cytogenetic diagnosis. Cytogenetic studies were attempted in 1,021 cases; the diagnosis was successful in 1,000 of these. The failure rate of obtaining a diagnosis from the amniotic fluid cell culture of the first amniocentesis was 5% (50 cases); 29 cases had a repeat tap and successful diagnosis was achieved in all. In 21 cases, a repeat tap was refused. Thus, the overall failure rate of obtaining a final cytogenetic diagnosis was 2.06% (21/1,021). There were 32 fetal losses after amniocentesis including 16 spontaneous second trimester abortions, 7 fetal deaths in utero and 9 stillbirths. In two additional cases, fetal death had occurred before amniocentesis. This number of fetal losses does not exceed the number that would be expected in the same maternal age group without amniocentesis. In our series, the frequencies of trisomy in maternal age groups 40 years and over, 37–39 years, 35–36 years, and under 35 years were 4.5, 3.14, 0 and 0% respectively. These frequencies are comparable to those reported from other prospective prenatal studies and higher than those of retrospective live born studies. Various problems and pitfalls in prenatal cytogenetic diagnosis are discussed.
Recessively inherited, late onset spondylar dysplasia and peripheral corneal opacity with anomalies in urinary mucopolysaccharides: A possible error of chondroitin‐6‐sulfate synthesis
Authors: Toledo S. P. A. , Mourão P. A. S. , Lamego C. , Alves C. A. R. , Dietrich C. P. , Assis L. M. , Mattar E. , Opitz John M. 
Published: June 2005

AbstractTwo male and two female sibs with an unusual form of spondyloepiphyseal dysplasia were reported. The main clinical features were low stature, moderate shortness of trunk and neck, abnormal span: height ratio, low‐normal UBS: LBS ratio, and peripheral corneal punctate opacities only seen by the slitlamp. Normal mental status was present. Typical metachromatic granules were not seen either in bone‐marrow cells or in peripheral blood cells. The X‐ray picture showed spondylar and pelvic dysplasias. Qualitative rather than quantitative anomalies were shown in the urinary mucopolysaccharides, mostly involving chondroitin‐6‐sulfate. The genetic data are consistent with autosomal recessive inheritance.
The summitt syndrome: Observations on a third case
Authors: Sells Clifford J. , Hanson James W. , Hall Judith G. , Summitt Robert L. 
Published: June 2005

AbstractA 6 1/2 year old male presented with acrocephaly, brachydactyly, clinodactyly, mild syndactyly of the hands and feet, genu valgum, and marked obesity. Roentgenograms of the hands revealed hypoplasia or aplasia of the middle phalanges. Roentgenograms of the feet revealed hypoplasia of the middle phalanges and deformity of the proximal phalangeal epiphyses of the great toes. Chromosomes studies revealed a normal 46,XY karyotype, and psychological testing revealed low normal intelligence. Current data support autosomal recessive inheritance, although X‐linkage cannot be excluded.
Genetic and diagnostic considerations in three families with abnormalities of facial expression and congenital urinary obstruction: “The Ochoa syndrome”
Authors: Elejalde B. Rafael , Gorlin Robert J. 
Published: June 2005

AbstractSeven patients (4 females, and 3 males) born in unrelated families, one of them consanguineous (first cousins), were affected by peculiar facies and gestures while smiling and crying, and by hydronephrosis, hydroureter and intravesical stenosis of the ureter, abnormal caliber of the urether in the prostatic and membranous portions, urethral valves, abnormal bladder with trabeculation, and diverticula associated with severe hypertrophy of the mucosa with sclerotic changes. The genetic analysis of these families indicates that the condition is probably autosomal dominant, with variable expressivity and incomplete penetrance. The syndrome represents alteration of facial and urinary developmental fields.The peculiar facies allows early recognition of the condition, and this can be helpful for early assessment and treatment, leading perhaps to a better prognosis.
Genetic counseling: Provision and reception of information
Authors: Lippman‐Hand Abby , Fraser F. Clarke 
Published: June 2005

AbstractTo explore verbal communication between family and counselor, transcripts of 30 tape‐recorded or observed genetic counseling sessions were analyzed qualitatively. In half the cases, available data did not allow counselors to give parents a single estimate of the recurrence rate. Moreover, limits on the language available for communicating small probabilities made common the use of nonnumerical statements about a family's chance of having an abnormal child. Counselees processed the factual information they were given, most commonly translating recurrence rates in ways that emphasized the uncertainties associated with them. They tended to view these rates in binary form and requested guidelines for their behavior, indicating uncertainty about how to proceed with reproductive decision‐making. The findings suggest that strategies for processing information are an important element influencing parental perspectives on and approaches to the problems created by being at‐risk and to possible courses of action.
Syndromes associated with deletion of the long arm of chromosome 18[del(18q)]
Authors: Wilson Miriam G. , Towner Joseph W. , Forsman Irene , Siris Evelyn , Summitt Robert L. 
Published: June 2005

AbstractWe studied eight persons whose karyotypes demonstrated deletion of a portion of the long arm of chromosome 18. Seven of these persons who showed the typical del(18q) syndrome had a common deletion in band 18q21, most likely band q21.3, and in at least two persons the deletion was interstitial. Another mentally retarded child, dissimilar in appearance, had a more proximal deletion within band 18q12. Two different clinical syndromes resulted from deletions of these different segments of the long arm of chromosome 18.
The hand profile in de Lange syndrome: Diagnostic criteria
Authors: Halal F. , Preus M. , Herrmann J. 
Published: June 2005

AbstractThe hand pattern profiles of 18 previously published and 10 new cases of de Lange syndrome were compared to those of cases referred as suspects, but judged clinically and by numerical taxonomic methods not to have de Lange syndrome (non‐de Lange). Based on a Poznanski metacarpophalangel profile of the 2 groups of patients, a simple scoring system using 11 measurements was devised using the 16 most marked differences within and between metacarpals and phalanges. Of the metacarpals, the first is shorter than the second, third, fourth, or fifth; and the second fifth are shorter than the third or fourth. Of the middle phalanges, the third and fourth are shorter than the respective metacarpal and than the second and fifth middle phalanx. Of the distal phalanges, the fifth is shorter than the second. The mean Z score for these 11 measurements is further below normal in the de Lange group than in the non‐de Lange group. All 11 non‐de Lange patients had a score less than 17, and all 28 de Lange patients had a score of 18 or more.
Trisomy 14 mosaicism: Case report and review
Authors: Johnson Virginia Pineda , Aceto Thomas , Likness Clark , Hoehn Holger 
Published: June 2005

AbstractComplete or partial trisomy 14 is compatible with life. However, in the former case, mosaicism is probably always present. A case of trisomy 14 mosaicism is reported. Comparisons are made with other trisomy 14, trisomy 14 mosaicism, and duplication 14q cases previously reported. As a group, they share some clinical manifestations. The phenotype consists of multiple congenital anomalies, including microcephaly, broad nose, wide mouth, high or cleft palate, micrognathia, congenital heart disease, intrauterine growth retardation, and mental retardation. The present patient also has asthma, eczema, and developmental asymmetry.
The SC phocomelia syndrome: Report of two cases with cytogenetic abnormality
Authors: Qazi Q. H. , Kassner E. G. , Masakawa A. , Madahar C. , Choi S. J. 
Published: June 2005

AbstractWe report two sibs with the SC phocomelia syndrome with typical facial appearance and bilateral absence or extreme hypoplasia of the fibula, radius, and thumb. One sib had bilateral humero‐ulnar and femoro‐tibial synostosis (absence of the elbow and knee joints). Application of the nosologic criteria of Herrmann and Opitz showed that there was no significant intrafamilial variation in phenotype. Chromosome analyses in both patients showed heterochromatic puffing and centromere separation involving many chromosomes, an observation that has previously been reported in patients with SC phocomelia and Roberts syndromes. More important, this finding will have significance in prenatal detection of a certain proportion of cases with these syndromes without resorting to the use of radiographic examinations.
Pectoralis major muscle defect and Poland complex
Authors: Castilla Eduardo E. , Paz Joaquin E. , Orioli Lêda M. 
Published: June 2005

AbstractPectoralis major muscle defect (PMD) was diagnosed in 27 infants from a series of 599, 109 live births in South America (1/22,189). In all 27 cases the PMD was unilateral, mainly affecting the right side (20/27), and there were more male (19/27) than female cases. No familial cases and no parental consanguinity were recorded. A positive correlation was observed between PMD and sex hormone intake and vaginal bleeding in the first trimester of pregnancy. In 12 (1/49,925) of the 27 PMD cases hypoplasia and/or syndactyly of the ipsilateral hand was also diagnosed. The index–middle interdigital space was affected in all 11 cases with symbrachydactyly. Additional congenital anomalies were observed in 4/27 cases, and they were: hemangiomas, hypospadias, and clubfeet. Poland complex (12 cases), isolated PMD (15 cases), and isolated symbrachydactyly (18 cases), showed a similar pattern for symmetry, sidedness, syndactyly type, and sex ratio.
Ring chromosome 6 in a child with minimal abnormalities
Authors: Carnevale Alessandra , Blanco Beatriz , Castillo Julieta , Castillo Victoria Del , Dominguez David 
Published: June 2005

AbstractWe describe a boy with a ring chromosome 6 and short stature, mild micrognathia, and bilateral transitional/simian creases. Five other patients with a ring 6 have been reported. The clinical and cytogenetic observations of all six patients are compared and discussed.
Monosomy 21: A possible stepwise evolution of the karyotype
Authors: Abeliovich Dvorah , Carmi Rivka , Karplus Michael , Bar‐Ziv Jacob , Cohen Maimon M. 
Published: June 2005

AbstractWe describe a female infant with manifestations of complete monosomy for chromosome 21 intrauterine growth retardation, failure to thrive, craniofacial anomalies, arthrogryposis‐like features, and psychomotor retardation. Chromosome analysis demonstrated mosaicism for three different cell lines in the various tissues examined; 45,XX,–21/46,XX,del(21)(q11) 46,XX. The existence of these three lines suggests a possible explanation for the few cases of “complete monosomy 21” which have been reported.
The Dubowitz syndrome in a teenager
Authors: Fryns J. P. , Fabry G. , Willemyns F. , Van Den Berghe H. 
Published: June 2005

AbstractThe Dubowitz syndrome has been recognized during the past few years as a new, distinct intrauterine growth‐retardation syndrome with autosomal recessive inheritance. One new patient is presented, a 10½‐year‐old slightly mentally retarded girl.
Mutational mosaicism and genetic counseling in retinoblastoma
Authors: Carlson E. A. , Desnick R. J. 
Published: June 2005

AbstractMutations may arise throughout an organism's life cycle. Typically, sporadic meiotic mutations give rise to individuals with all their germinal and somatic cells bearing the mutant gene. These mutations may be amorphs (with full penetrance and expressivity) or hypomorphs (with reduced penetrance and expressivity). Mutational mosaicism, however, involves the origin of mutations occurring during mitosis, whether in the parent at some stage prior to reproductive maturity or in the offspring at some time following fertilization. The phenotypic expression and transmission of these new mutations are dependent on the proportion of cells bearing the mutant gene as well as the location of these cells in somatic and/or germinal tissues. Mutational mosaicism was used as a developmental model to analyze 1,500 sporadic and 179 familial cases of retinoblastoma from the world literature. This model provided an interpretation for the origin, onset, and transmissibility of the sporadic unilateral retinoblastoma cases, which represent over 60% of all retinoblastoma patients. The model also permits a reclassification of all transmissible types of retinoblastoma; based on this classification, more accurate risk figures for genetic counseling can be offered. In addition, mutational mosaicism can be extended as a model to other autosomal dominant and X‐linked mutations.
Cerebroarthrodigital syndrome: A newly recognized formal genesis syndrome in three patients with apparent arthromyodysplasia and sacral agenesis, brain malformation and digital hypoplasia
Authors: Spranger J. W. , Schinzel A. , Myers T. , Ryan J. , Giedion A. , Opitz J. M. , Hall Judith G. 
Published: June 2005

AbstractWe describe three patients with a complex syndrome of apparent arthromyodysplasia, dyscephaly, sacral agenesis, and hypoplastic digits. Cause is unknown, but an environmental cause is suspected on the basis of ergotamine exposure in one case and diazoxide intake in another, together with suggestive similarities to anomalies seen in animals treated with these drugs and to calves with the Australian hydranencephaly/arthrogryposis syndrome caused by Akebane or Aino virus. Pathogenetically the primary defect may be a neural tube‐neural crest dysplasia with multiple secondary and tertiary manifestations and deformities.
The syndrome of ring chromosome 12
Authors: Scribanu Nina , McCullars Eva B. , Baumiller Robert C. , Colon Angel R. , Kaye Celia J. 
Published: June 2005

AbstractWe have studied a 13 month'old girl with failure to thrive, developmental delay, and dysmorphic features. At 13 months, the weight'age was 1 month, length'age was 3 months and head circumference was at the 3rd centile for 3 months. Physical findings were: Epicanthal folds, mildly cupped, apparently low'set ears, highly arched palate, short neck with low hairline, clinodactyly, and single crease of left 5th finger. The modal chromosome number was 46. Trypsin‐G banding identified a ring chromosome 12; Karyotype was 46,XX,r(12)(p13q24).
Autosomal Recessive. Spondylo‐epi‐metaphyseal dysplasia (Irapa type) in a Mexican family: Delineation of the syndrome
Authors: Hernández A. , Ramírez M. L. , Nazará Z. , Ocampo R. , Ibarra B. , Cantú J. M. 
Published: June 2005

AbstractThree sibs from a Mexican mestizo family affected with a spondylo‐epi‐metaphyseal dysplasia were studied. The clinical, radiological, and genetic findings were similar to those previously described in Venezuelan Indians of the Irapa tribe. The present patients permit confirmation of the syndrome and provide evidence for autosomal recessive inheritance. Genetic drift is postulated.