bluuebunny/crossref_metadata_2025_split huggingface dataset:
Complex chromosome rearrangements and congenital anomalies
Authors: Kousseff Boris G. , Nichols Pat , Essig Yau‐Ping , Miller Karen , Weiss Avery , Tedesco Thomas A. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractCongenital complex chromosome rearrangements (CCR) compatible with life are rare in man. Thus patients with CCR usually present considerable diagnostic difficulties both clinically and cytogenetically. We studied a 12‐year‐old mentally retarded male with minor congenital anomalies as described below and his first‐degree relatives. The propositus had an unbalanced karyotype with eight break points and seven derivative chromosomes; two deletions, del(6) (q25 → qter) and del(14) (q31 → qter), and four translocations, t(2;11), t(5;15), t(6;11), t(6;20) were present. Parental chromosomes were normal; however, the mother had a few metaphases with abnormal chromosomes suggestive of chromosome instability; These findings and a review of reported patients with CCR are presented with regard to speculations about etiology, pathogenesis, phenotypic expression, and prognosis. Physicians should be aware of CCR and broader indications for cyto‐genetic studies appear warranted in view of these data.
Use of genetic counselling services for neural tube defects
Authors: Sadovnick A. D. , Baird P. A. , Hall J. G. , Keena B. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractGenetic counselling is recommended for parents of children with neural tube defects (NTDs) to inform them of the recurrence risks and the option of prenatal diagnosis. British Columbia provides an excellent site to examine the use by parents of genetic counselling services for NTDs. Genetic services for the entire province are centralized, and there is virtually complete ascertainment of all NTD births. The resulis from this study indicate that use of genetic counselling services is influenced by the type of NTD present and whether the index case was live or stillborn. Genetic counselling is most often sought after the birth of a liveborn infant with spina bifida.
Making the most of multiple measurements in estimating carrier probability in Duchenne muscular dystrophy: The Bayesian incorporation of repeated measurements using logistic discrimination
Authors: Percy Maire E. , Andrews David F. , Brasher Penelope M. A. , Rusk Ann C. M. , Reynolds James F. 
Published: June 2005

AbstractIn carrier detection studies, females‐at‐risk are usually tested several times if the results are ambiguous, whereas subjects in the control and obligate carrier refer‐ence groups may not be tested as often. The question is how to incorporate the multiple measurements most effectively with information in the family pedigree into combined carrier risks.Sets of measurements on individuals are not independent, but are related with the correlation coefficient 0 < ρ < 1. We have developed a procedure for incor‐porating repeated measurements on individuals and their a priori chance of having the disease into logistic models. This procedure utilizes the set of measurements and an estimate of ρ. We describe application of this procedure to carrier detection in Duchenne muscular dystrophy (DMD) using serum creatine kinase (CK) mea‐surements as the biochemical indicator of carrier status.Estimates of ρ for controls and obligate DMD carriers did not differ signifi‐cantly from 0.5. Repeated testing with use of ρ = 0.5 significantly decreased the median logistic carrier probability for controls and increased it for carriers. In some cases four to six rather than the three CK tests conventionally used in genetic counseling were necessary to obtain a stable logistic carrier probability for a subject.
Median cleft of the upper lip associated with lipomas of the central nervous system and cutaneous polyps
Authors: Pai G. S. , Levkoff Abner H. , Leithiser Richard E. , Reynolds James F. 
Published: June 2005

AbstractAn unusual combination of three rare developmental anomalies, ie, complete median cleft lip, cutaneous polyps, and midline lipomas of the central nervous system, was discovered in a male newborn. Inguinal hernia, cryptorchidism, and clinodactyly of the fifth fingers were other features. His mother was found to have clinodactyly, antimongoloid slant to her palpebral fissures, and computed tomog‐raphy (CT) scan evidence of asymptomatic hydrocephaly. Family history and clinical investigations did not reveal any clues to etiology. This combination of findings may represent a new syndrome or another expression of frontonasal dysplasia.
Isolation of the right subclavian artery with subclavian steal in a child with Klippel–Feil anomaly: An example of the subclavian artery supply disruption sequence
Authors: Brill Charles B. , Peyster Robert G. , Keller Marc S. , Galtman Lawrence , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe studied a patient with Klippel–Feil anomaly and subclavian steal due to isolation of the right subclavian artery. Other anomalies included hypoplasia of the right clavicle and right vertebral artery, low bifurcation of the left common carotid artery and left choanal atresia. The patient was mentally retarded with corticospinal, cerebellar, and brain stem signs. The entire brain and cervical spinal cord were small; there was no central nervous system malformation, hydroceph‐alus, or bony impingement on neural structures.Embryologic vascular disorders have been found to be responsible for various congenital systemic and neurologic anomalies such as intestinal atresia and hydra‐nencephaly. Subclavian artery supply disruption sequence has been hypothesized to result in Klippel‐Feil, Poland, and Möbius anomalies. In this case the vertebral and facial abnormalities may well be related to anomalous subclavian and carotid supply.An embryonic vascular “steal” has been thought to cause the sirenomelia anomaly. We postulate that the subclavian steal, during the embryonic period, may have been responsible for the small size of this patient's cerebral hemi‐spheres, brain stem, cerebellum, and cervical spinal cord.
Familial rhizomelic dysplasia: Phenotypic variation or heterogeneity?
Authors: Viljoen Denis , Goldblatt Jack , Wallis Colin , Beighton Peter , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractIn a consanguineous kindred of mixed ancestry in Cape Town we observed a boy with severe shortness of stature and an unusual skeletal dysplasia with marked shortness of the humeri. A male one‐half second cousin had gross abnormalities of the lower limbs, which were worst in the femora, but his skeleton was otherwise virtually normal. A brother and sister of this latter individual had been similarly affected and their parents were consanguineous. The question arises as to whether two similar but separate disorders are present in this family or whether the condition in these two persons represents extreme phenotypic variability of the same autosomal recessive entity.
Psychiatric manifestations of homocystinuria due to cystathionine β‐synthase deficiency: Prevalence, natural history, and relationship to neurologic impairment and vitamin B6‐responsiveness
Authors: Abbott Margaret H. , Folstein Susan E. , Abbey Helen , Pyeritz Reed E. , Opitz John M. 
Published: June 2005

AbstractHomocystinuria commonly affects the central nervous system (CNS), primarily as mental retardation, seizures, and stroke. Case reports have long suggested a predisposition to schizophrenia, but no careful study of predisposition to psychiatric illness has been performed. Accordingly, we evaluated 63 persons with homocystinuria due to cystathionine β‐synthase deficiency for psychiatric disturbance, intelligence, evidence of other CNS problems, and responsiveness to vitamin B6. The overall rate of clinically significant psychiatric disorders was 51%, predominated by four diagnostic categories: episodic depression (10%), chronic disorders of behavior (17%), chronic obsessive‐compulsive disorder (5%), and personality disorders (19%). The average IQ was 80 ± 27 (1 SD); and an IQ of ≤ 79 was two‐thirds more commom among vitamin B6‐nonresponsive patients compared to vitamin B6‐responsive patients. Aggressive behavior and other disorders of conduct were particularly common among patients with mental retardation and among vitamin B6‐nonresponsive patients.
Low maternal serum alpha‐fetoprotein levels and congenital diaphragmatic defects
Authors: Resta Robert G. , Luthy David A. , Karp Laurence E. , Hickok Durlin E. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on 2 cases of fetal congenital diaphragmatic defects with normal chromosomes among 105 patients referred for evaluation for low maternal serum alpha‐fetoprotein (MSAFP) levels. The mechanism for this striking association is not clear. The association of low MSAFP levels and congenital diaphragmatic defects may have importance for MSAFP screening programs.
Partial duplication 8q12→q21.2 in two sibs with maternally derived insertional and reciprocal translocations
Authors: Walker A. P. , Bocian M. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on two sibs with duplication of the segment 8ql2→8q21.2 resulting from malsegregation of a maternal insertional translocation: [inv ins (5;8)(pl3;ql2q2l.2)]. The mother also carries a reciprocal translocation [t (l;6)(q31;q5)], which was transmitted in the balanced state to the propositi and to a phenotypically normal son and daughter. The literature on two translocations occurring in one individual and on insertional rearrangements is reviewed in terms of reproductive risks to balanced carriers. The two affected infants have a previously undescribed partial duplication of an interstitial segment of 8q and a pattern of abnormalities distinct from those seen in other partial duplications of 8. These infants are reviewed with 78 other cases of partial duplication of chromosome 8 with regard to phenotype‐karyotype correlations.
Preliminary evidence for genetic determination of intraerythrocytic sodium concentration in utah pedigrees
Authors: Dadone Mary M. , Smith Jean B. , Wu Lily , Ash K. Owen , Williams Roger R. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractIntraerythrocytic sodium concentration has been reported to be increased in hypertensive individuals and some of their normotensive relatives. We investigated the “familiality” of this trait in 572 nonhypertensive subjects from 34 Utah kindreds. Most of these kindreds were selected because of a high incidence of hypertension, heart attack, or stroke. Intraerythrocytic sodium concentration was correlated with the sex of the subject and suprailiac skinfold thickness. Intraerythrocytic sodium concentration was adjusted by linear regression for these 2 factors. The residual values were positively correlated in parent‐offspring pairs and among sibs, both those presumed to be living together and those presumed to be living apart. The spouse‐spouse correlation was not significant. Pedigree analysis suggested a mixed major‐gene/polygenic model of inheritance, but these data did not allow us to distinguish between dominant and recessive inheritance for the major gene component. Total heritability due to both major‐gene and polygenic components was estimated to be 90–95% the proportion of the total variance due to polygenes was estimated to be 60–75%, These results suggest that further study of the relationship between the inheritance of intraerythrocytic sodium and the pathophysiology of hypertension is warranted.
Cystic hamartomata of lung and kidney: A spectrum of developmental abnormalities
Authors: Graham John M. , Boyle William , Troxell Jeffrey , Cullity Garry J. , Sprague Paul L. , Beckwith J. Bruce , Reynolds James F. 
Published: June 2005

AbstractWe report on a developmental malformation of the lung and kidney which has not been previously described and which we have chosen to call “cystic hamartomata of the lung and kidney” to emphasize the non‐malignant nature of these lesions. We also confirm a previous case report by Weinberg and Zumwalt [1977] as a different distinct disorder that results in a multifocal cystic hamartomata of the lung with associated marked parenchymal overgrowth of the kidney (the Weinberg‐Zumwalt syndrome). These cases represent a spectrum of abnormal morphogenesis affecting both kidney and lung. Patients 1 and 2 presented during infancy with abdominal masses and hypertension due to bilateral multilocular cysts of the kidney with associated hamartomatous pulmonary cysts; patient 2 also had one area of cellular mesoblastic nephroma. Patient 3 demonstrated markedly hyperplastic renomegaly with medullary dysplasia in association with bilateral cystic hamartomata of the lungs. During the fifth week of gestation, the ureteric bud invades the unsegmented mesoderm that becomes the metanephric system, and the lung bud invades the splanchic mesoderm, which provides the stimulus for its growth. We suggest that the predominant pattern of a congenital kidney or lung hamartoma might reflect the timing of a prenatal neoplastic event affecting these developmental processes.
Dominantly inherited dilated cardiomyopathy
Authors: Gardner R. J. M. , Hanson J. W. , Lonasescu V. V. , Ardinger H. H. , Skorton D. J. , Mahoney L. T. , Hart M. N. , Rose E. F. , Smith W. L. , Florentine M. S. , Hinrichs R. L. , Reynolds James F. 
Published: June 2005

AbstractWe describe a family in which there is segregating an autosomal dominant gene determining a cardiomyopathy. The pathodynamics is that of pump failure associated with dilatation of the heart, generally having an overt clinical onset from the fourth through seventh decades. Dysrhythmia is a frequent concomitant feature. There may be an associated skeletal myopathy, either producing a very mild proximal weakness or proving detectable only upon biopsy.This family is similar to other reported cases of familial dominant “idiopathic” dilated cardiomyopathy, but the nature of the heterogeneity within this category remains to be elucidated. The roles of echocardiography, cardiac biopsy, and skeletal muscle biopsy in the presymptomatic detection of the heterozygote are noted.
Animal model: Skeletal anomalies in mice with cleidocranial dysplasia
Authors: Sillence D. O. , Ritchie H. E. , Selby P. B. , Prieur David J. 
Published: June 2005

AbstractCleidocranial dysplasia in mice, a radiation‐induced skeletal mutation, showed striking homology with cleidocranial dysplasia in humans. Genetic studies indicated that the condition in mice is inherited as an autosomal dominant trait with variable expressivity and almost complete penetrance. The homozygous condition was lethal in utero. Radiographic and alcian blue/alizarin red S‐stained whole‐skeletal preparation studies were used to determine the extent, pattern, incidence, and distribution of skeletal abnormalities in heterozygous mice. Cleidocranial dysplasia in mice was characterized by variable clavicular hypoplasia, delayed closure of cranial fontanelles and sutures, and variable hypoplasia of pelvic bones, in particular ischiopubic rami. The gene symbol Ccd is proposed for the cleidocranial dysplasia mutation in mice and humans.
Trisomy Xq in a male: The isochromosome X Klinefelter syndrome
Authors: Donlan Michael A. , Dolan Cynthia R. , Metcalf Michael J. , Bradley Cynthia M. , Salk Darrell , Reynolds James F. 
Published: June 2005

AbstractWe report on a male with trisomy Xq resulting from an isochromosome Xq which is preferentially inactivated: 47,XY, + i(Xq). Six previous cases have been reported. These patients are similar to patients with classical Klinefelter syndrome (47,XXY) in that they have infertility, decreased masculinization, gynecomastia, and elevated luteinizing hormone (LH) and follide stimulating hormone (FSH) levels. They may differ in having average intelligence and normal to short stature. These findings indicate that extra copies cf the long arm of X have phenotypic expression, even though activated only in early development.
Congenital eventration of the diaphragm: An unusual cause of intractable neonatal respiratory distress with variable etiology
Authors: Moerman Philippe , Fryns Jean‐Pierre , Devlieger Hugo , Van Assche André , Lauweryns Joseph , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe describe two infants dying neonatally of respiratory failure despite all attempts at resuscitation. The most striking finding at autopsy was eventration and reduced muscle content of the diaphragm. Microscopic examination of the skeletal muscles, in combination with retrospective evaluation of the family history, disclosed severe X‐linked centronuclear myopathy in the first patient and congenital myotonic dystrophy in the second. These disorders are probably more frequent than reported before. Their identification is important, not only for genetic counseling of the involved families but also for providing the neonatologist a sufficient explanation for the failure of resuscitation.
Metacarpophalangeal pattern profile analysis in Robinow syndrome
Authors: Butler Merlin G. , Gale David D. , Meaney F. John , Wadlington William B. , Robinow Meinhard , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe analyzed the metacarpophalangeal pattern profile (MCPP) on 15 individuals with Robinow syndrome and calculated a mean Robinow syndrome profile. Correlation studies confirm clinical homogeneity of the hand profile in the Robinow syndrome. Discriminant analysis of individuals with Robinow syndrome compared with a sample of normal individuals produces a function of 6 MCPP variables that may provide a useful tool for diagnosis.
Multiple congenital anomalies associated with apparently normal maternal intake of vitamin A: A phenocopy of the isotretinoin syndrome?
Authors: Lungarotti M. S. , Marinelli D. , Mariani T. , Calabro A. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractThe teratogenicity of vitamin A has been repeatedly reported in the literature and confirmed on the basis of several cases of adverse pregnancy outcome associated with maternal isotretinoin exposure.We report a case which shows a striking similarity with this syndrome, but the child was born to a mother who took a normal supplementation of vitamin A during pregnancy.The differential diagnosis is discussed.
Mosaic tetrasomy 12p: Four new cases, and confirmation of the chromosomal origin of the supernumerary chromosome in one of the original Pallister‐Mosaic syndrome cases
Authors: Warburton Dorothy , Anyane‐Yeboa Kwame , Francke Uta , Reynolds James F. 
Published: June 2005

AbstractFour new cases are reported in which mosaicism for a supernumerary chromo‐some interpreted as an isochromosome for 12p [i(12p)] is present. In 2 cases seen in early childhood the mosaicism was present at a low level in peripheral blood and was documented in one case to be present with a higher frequency in fibroblast cultures from skin. These cases have clinical features compatible with those in previously reported cases of the Teschler‐Nicola/Killian syndrome, many of whom have now been found to be mosaic for a similar i(12p) chromosome in fibroblast cultures. One case was diagnosed prenatally from amniotic fluid culture. The fourth case was a neonatal death, in which fibroblast cultures were established from muscle and increased activity of LDH‐B was demonstrated, supporting the theory that the origin of the additional chromosome was from 12p. Loss of the cell line with the supernumerary chromosome occurs after long‐term fibroblast culture. Previously unpublished studies showing increased LDH‐B activity in case 1 of Pallister‐Mosaic syndrome originally reported in 1977 are also reported. It is of interest that our 2 cases which did not survive birth and one previously published case diagnosed prenatally had diaphragmatic herniae.
Skeletal anomalies in a patient with the Pallister/Teschler‐Nicola/ Killian syndrome
Authors: Kawashima H. , Reynolds James F. 
Published: June 2005

AbstractWe report on a 3–8/12‐year‐old boy with the Pallister/Teschler‐Nicola/Killian syndrome and previously unreported bilateral skeletal anomalies consisting of small feet and short but otherwise normal humeri, ulnae, femora, and fibulae. His peripheral blood chromosomes were normal; however, 47,XY,+ i(12p) was found in 100% of fibroblasts.
The effects of storage of blood and isolated DNA on the integrity of DNA
Authors: Madisen Linda , Hoar David I. , Holroyd Catherine D. , Crisp Margaret , Hodes M. E. , Reynolds James F. 
Published: June 2005

AbstractLong‐term storage of DNA is required for a number of genetic studies; prior to extraction, blood samples may be subject to elevated temperatures for variable intervals. We have studied the effect of temperatures ranging from −70°C to +65°C on human blood and on DNA extracted from it. DNA in solution stored at ambient temperatures up to 37°C for 6 months was digestible by three different restriction endonucleases, whereas storage at 45°C is deleterious after 6‐7 weeks. DNA can be extracted from blood samples stored at −70°C for at least 2 months or at 23°C for a week or more, but blood stored at these temperatures may yield less high‐molecular‐weight DNA. Cell pellets from which plasma has been removed also can serve as a source of DNA. Isolated DNA stored dry for years (up to 30) is difficult to dissolve and may appear degraded, but a sample stored dry for 13 years and then in solution at −20°C for 7 years appeared to be intact.
Genetic aspects of early chiidhood scoliosis
Authors: Connor J. M. , Conner A. N. , Connor R. A. C. , Tolmie J. L. , Yeung B. , Goudie D. , Reynolds James F. 
Published: June 2005

AbstractEighty‐seven families with early onset sccoliosis were evaluated. These were divided into 3 groups: resolving infantile idiopathic scoliosis (15 families), progressive infantile idiopathic scoliosis (21 families), and congenital scoliosis due to vertebral malformations (51 families). The children with congenital scoliosis were subdivided into those who had closed neural arch defect (19 families) and those who did not (32 families).Resolving infantile idiopathic scoliosis was usually associated with plagiocephaly, and both deformations tended to show spontaneous recovery. These children were otherwise normal. Seven (33%) of the children with progressive infantile idiopathic scoliosis were mnentally retarded, but only 2 had a congenital malformation. In contrast, 18 (33%) of the children with congential scoliosis had other malformations, but only 2 were mentally retarded.The recurrence risk for scoliosis was low in each group studied. However, there was an incriased risk (4% for sibs) of neural tube defects in the families with congenital scoliosis (with or without neural arch defects). This sib resk was apparent for probands with only a single hemivetebrum in addition to probands with more extensive vertebral defects and would support an etiological relationship between neural tube defects and other vertebral malformations.