bluuebunny/crossref_metadata_2025_split huggingface dataset:
Sexing of human embryos and fetuses by fluorescent in situ hybridization (FISH) to paraffin‐embedded tissues with sex chromosome‐specific DNA probes
Authors: Mori Chisato , Shiota Kohei 
Published: June 2005

AbstractA fluorescent in situ hybridization (FISH) study was carried out on paraffin sections of human embryonic and fetal tissues with two DNA probes, DXZ1 and DYZ1 (Oncor), for X and Y chromosome‐specific DNA sequences, respectively. The specificity of the DNA probes was confirmed on metaphase and interphase lymphocytes of healthy normal adult males. The paraffin blocks of the human embryonic and fetal tissues examined in the present study had been stored at room temperature for up to 5 years after fixation in 4% paraformaldehyde. All the seven embryos and five fetuses examined were successfully sexed by FISH. The cells from three embryos and four fetuses were positive for a hybridization signal with each of the DXZ1 and DYZ1 probes and they were classified as male. The cells from the remaining four embryos and one fetus were positive for two identical hybridization signals with the DXZ1 probe in a nucleus instead of the absence of the signal hybridized with DYZ1, indicating that their cells have two X chromosomes but no Y chromosomes. The FISH results for the five fetuses examined were consistent with their genital sex and/or gonadal histology. The FISH results were highly specific and no false positive or false negative results were obtained. Thus, the FISH technique has been shown to visualize specific DNAs in situ on paraffin sections and to be useful to determine the sex of fixed embryos and fetuses retrospectively. © 1994 Wiley‐Liss, Inc.
Familial crossed polysyndactyly
Authors: Goldstein David J. , Kambouris Marios , Ward Richard E. 
Published: June 2005

AbstractWe have observed a distinct form of “crossed” polysyndactyly in 6 generations of a family with 5 affected persons, all males. The polydactyly is postaxial in the hands and preaxial in the feet. Syndactyly in the hands is observed in some relatives, while syndactyly in the feet is present bilaterally in all affected relatives. This seems to be an autosomal dominant trait with male to male transmission over 3 generations by examination and an additional 3 generations by history.This form of polysyndactyly could not be readily categorized by the existing classification by Temtamy and McKusick [1978: BD OAS XIV 6:363–392]. We review and expand the present classification of polydactyly and syndactyly syndromes. © 1994 Wiley‐Liss, Inc.
Psychological aspects of genetic counseling: A legal perspective
Authors: Sharpe Neil F. 
Published: June 2005

AbstractCarrier and presymptomatic genetic testing information can have profound psychological consequences for a patient and the family. American and Canadian professional accreditation standards for clinical genetics state that the health care provider must be prepared to provide psychological support. Through a survey of human/medical genetics journals and texts, this article identifies those protocols that constitute an appropriate standard of care, and examines the legal implications, particularly with regard to the law of medical malpractice. © 1994 Wiley‐Liss, Inc.
Novel karyotype in the Ullrich‐Turner syndrome—45,X/46,X,r(X)/46,X,dic(X)—investigated with fluorescence in situ hybridization
Authors: Robson L. , Jackson J. , Cowell C. , Sillence D. , Smith A. 
Published: June 2005

AbstractA 10‐year‐old girl with Ullrich‐Turner syndrome was found to have the novel karyotype 45,X/46,X,r(X)(p11q11)/46,X,dic(X)(p11). Fluorescence in situ hybridization (FISH) with the α satellite X centromere probe established the origin of the small ring chromosome. Scanning a large number of cells by interphase FISH showed that the dicentric (X) was the least prevalent cell line. The common breakpoint of Xp11 suggests a sequence of errors as the mechanism whereby these 3 distinct cell lines have arisen. © 1994 Wiley‐Liss, Inc.
Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G)
Authors: Pastores Gregory M. , Santorelli Filippo M. , Shanske Sara , Gelb Bruce D. , Fyfe Billie , Wolfe David , Willner Judith P. 
Published: June 2005

AbstractMutation of mitochondria) (mt) DNA at nucleotide (nt) 8993 has been reported to cause neurogenic weakness, ataxia, retinitis pigmentosa (NARP), or Leigh syndrome (LS). We report a family in whom the mutation was expressed clinically as LS and hypertrophic cardiomyopathy (CMP) in a boy who presented with a history of developmental delay and hypotonia, and who had recurrent lactic acidosis. The mother's first pregnancy resulted in the birth of a stillborn female; an apparently healthy older brother had died suddenly (SIDS) at age 2 months. MtDNA analysis identified the presence of the T8993G point mutation, which was found to be heteroplasmic in the patient's skeletal muscle (90%) and fibroblasts (90%). The identical mutation was present in leukocytes (38%) isolated from the mother, but not from the father or maternal grandmother. Our findings expand the clinical phenotype of the nt 8993 mtDNA mutation to include hypertrophic cardiomyopathy and confirm its cause of LS. © 1994 Wiley‐Liss, Inc.
Clinical findings in two African‐American families with the nevoid basal cell carcinoma syndrome (NBCC)
Authors: Goldstein Alisa M. , Pastakia Berham , Digiovanna John J. , Poliak Susanna , Santucci Sandra , Kase Ronald , Bale Allen E. , Bale Sherri J. 
Published: June 2005

AbstractThe nevoid basal cell carcinoma syndrome (NBCC) is an autosomal dominant multisystem disorder with variable expressivity. We present the clinical findings on 11 African‐American NBCC cases from 2 families and a review of the literature of NBCC in African‐Americans. The 2 new families, as well as those previously reported, suggest minimal expression of the basal cell carcinomas and full expression of the other components of the syndrome. The 3 most common findings in the 11 cases were jaw cysts, palmar and/or plantar pits, and calcification of the falx cerebri. Only 44% (4/11) of these cases had one or more confirmed basal cell carcinomas. This frequency is substantially less than that observed in whites (90% with basal cell carcinomas). The relative lack of these skin tumors in African‐Americans partly reflects ultraviolet radiation protection resulting from increased skin pigmentation. Future research should help identify the specific mutation(s) in blacks as well as other modifying genes and environmental exposures that may contribute to the varied manifestations of the syndrome. © 1994 Wiley‐Liss, Inc.
Nevoid basal cell carcinoma syndrome: Review of 118 affected individuals
Authors: Shanley Susan , Ratcliffe John , Hockey Athel , Haan Eric , Oley Christine , Ravine David , Martin Nicole , Wicking Carol , Chenevix‐Trench Georgia 
Published: June 2005

AbstractOne hundred eighteen cases of nevoid basal cell carcinoma syndrome (NBCCS, Gorlin's syndrome or basal cell nevus syndrome) are presented in this study. In aiming to ascertain all the affected families in Australia, we have examined the largest series to date. Relative frequencies of associated complications are presented and compared with those of the recent English survey by Evans et al. [J Med Genet 30:460–464, 1993]. The frequencies of most manifestations are similar. However, one major difference is that the multiple basal cell carcinomas are manifest from an earlier age in the Australian population, which probably reflects greater exposure to ultraviolet radiation. Of the 64 families ascertained, 37 represented simplex cases, and, accordingly, the apparent new mutation rate is surprisingly high (14–81%) given the lack of impact of NBCCS on reproductive capabilities. There is some evidence to suggest that this may be attributable to anticipation. © 1994 Wiley‐Liss, Inc.
Coincident DiGeorge anomaly and renal agenesis and its relation to maternal diabetes
Authors: Novak Robert W. , Robinson Haynes B. 
Published: June 2005

AbstractWe describe 2 cases of DiGeorge anomaly with bilateral renal agenesis–one, who also had hemivertebrae, in an infant of an insulin–dependent diabetic mother (IDDM). In a review we identified 2 other instances of this combination, both in IDDMs. The currently accepted notion that DiGeorge anomaly and renal agenesis are developmental field defects, coupled with their coincidence in IDDM, suggests that this combination is an association. © 1994 Wiley‐Liss, Inc.
Cholesterol metabolism in the RSH/Smith‐Lemli‐Opitz syndrome: Summary of an NICHD conference
Authors: Opitz John M. , de la Cruz Felix 
Published: June 2005

AbstractDuring the evolution of multicellularity and attendant processes of development, cholesterol played a key role in the formation of the plasma membrane and outer mitochondrial membrane of every cell in the organism. Later functions include pivotal involvement in steroid, bile acid, and vitamin D metabolism and myelination of the nervous system. In the CNS myelination does not begin until the third trimester, and subcortical myelination not until after birth. The cholesterol of the cell membrane of the ovum is maternally derived. It is not known when the zygote begins making its own cholesterol during morphogenesis and histogenesis, but it must occur early to keep up with the dramatic rate of cell division in the embryo. Thus, it is a startling surprise that human embryos and fetuses apparently able to synthesize little cholesterol (because of a presumed defect of the Δ5,7‐sterol, Δ7‐reductase that converts 7‐dehydrocholesterol (7‐DHC) into cholesterol) frequently live to term and, rarely, may be so mildly affected as to attend school with only mild MR. The discovery by G. Stephen Tint and his co‐workers of the apparent 7‐DHC reductase deficiency makes the RSH (Smith‐Lemli‐Opitz) syndrome the first true metabolic malformation syndrome. A teratological animal model which has been known for 30 years now appears applicable to the RSH/SLO syndrome. A multidisciplinary NICHD conference held on September 20–21, 1993 reviewed the numerous implications of this discovery and agreed unanimously that research in this field be given highest priority in order to better understand cholesterol synthesis in the mammalian brain, cholesterol transport from mother to embryo and fetus, pre‐and postnatal metabolic compensation in structure and function for a profound block in cholesterol synthesis, the nature of the blood–brain barrier for cholesterol, treatment of affected infants, children, and adults, structure and genetic specification of a 7‐DHC reductase enzyme (which has never been purified!) and its evolution, the variability of the syndrome and whether it is genetically homo‐ or heterogeneous, the population genetics of the RSH syndrome, possible selective advantages (or disadvantages) of heterozygotes, and means of newborn screening, carrier detection, and prenatal diagnosis. © 1994 Wiley‐Liss, Inc.
Abnormal cholesterol metabolism in the Smith‐Lemli‐Opitz syndrome: Report of clinical and biochemical findings in four patients and treatment in one patient
Authors: Irons Mira , Elias Ellen Roy , Tint G. S. , Salen Gerald , Frieden Roger , Buie Timothy M. , Ampola Mary 
Published: June 2005

AbstractWe report on four patients with the Smith‐Lemli‐Opitz (SLO) syndrome who appear to have a defect in cholesterol biosynthesis. The initial results of therapy of one of the patients with cholesterol and bile acids to correct her metabolic abnormalities are described. This finding provides a biochemical marker to help in the diagnosis of this syndrome, may provide insight into the pathogenesis of this disorder, and have therapeutic and prenatal diagnostic implications as well. © 1994 Wiley‐Liss, Inc.
Smith‐Lemli‐Opitz syndrome in a female with a de novo, balanced translocation involving 7q32: Probable Disruption of an SLOS gene
Authors: Wallace Margaret , Zori Roberto T. , Alley Tiffany , Whidden Elaine , Gray Brian A. , Williams Charles A. 
Published: June 2005

AbstractA 3‐month‐old infant girl had manifestations of the Smith‐Lemli‐Opitz syndrome (SLOS) including typical positional anomalies of the limbs, apparent Hirschsprung disease, cataracts, ptosis, anteverted nares, cleft of the posterior palate, small tongue, broad maxillary alveolar ridges, and abnormally low serum cholesterol levels. Chromosomal analysis showed a de novo balanced translocation interpreted as 46,XX,t(7;20)(q32.1;q13.2). We hypothesize that the translocation breakpoint in this case interrupts one SLOS allele and that the other allele at the same locus has a more subtle mutation that was inherited from the other parent. This case, as well as cytogenetic observations in other SLOS cases, suggests that SLOS could be due to autosomal recessive mutation at a gene in 7q32. © 1994 Wiley‐Liss, Inc.
Mosaic tetrasomy 8p in two patients: Clinical data and review of the literature
Authors: Schrander‐Stumpel Constance T. R. M. , Govaerts Lutgarde C. P. , Engelen John J. M. , van der Blij‐Philipsen Marianne , Borghgraef Martine , Loots Wil J. G. , Peters Jan J. M. , Rijnvos Wilhelmina P. M. , Smeets Dominique F. C. M. , Fryns Jean‐Pierre 
Published: June 2005

AbstractWe report on 2 girls with mosaic tetrasomy 8p. Patient 1 showed the extra iso 8p chromosome in 20% of cultured lymphocytes and 18% of cultured fibroblasts [46,XX/47,XX, + i(8p)]. She presented with growth retardation, mild facial alterations, and motor developmental delay. Patient 2 presented with developmental delay, hypotonia, and slight facial alterations; she had the extra iso 8p chromosome in 94% of cultured peripheral lymphocytes. The patients are compared to the 6 previously reported cases. In our experience, the presently reported patients clinically resemble children with inv dup(8)(p21‐p22) and patients with mosaic trisomy 8. © 1994 Wiley‐Liss, Inc.
Gene for Simpson‐Golabi‐Behmel syndrome is linked to HPRT in Xq26 in two European families
Authors: Orth Ulrike , Gurrieri Fiorella , Behmel Annemarie , Genuardi Maurizio , Cremer Marion , Gal Andreas , Neri Giovanni 
Published: June 2005

AbstractLinkage, analysis was performed in 2 previously described European families segregating for the Simpson‐Golabi‐Behmel (SGB) syndrome. In both kindreds close linkage without recombination (zmax=4.45 at theta= 0.00) was observed between the disease locus and the HPRT locus mapped in Xq26. These data are very similar to those (zmax=7.5 at the‐ta=0.00) reported recently by others after studying a large Dutch‐Canadian kindred with SGB syndrome. Compiled lod scores from the 3 families reach their maximum of 11.95 at recombination fraction of 0.00 with one lod unit support interval of 0.00–0.04. © 1994 Wiley‐Liss, Inc.
Multiple congenital anomalies in a man with (X;6) translocation
Authors: Sivak Louise E. , Esbenshade John , Brothman Arthur R. , Issa Bonnie , Lemons Richard S. , Carey John C. 
Published: June 2005

AbstractX;autosome translocations in humans, often associated with congenital anomalies or with gonadal dysgenesis syndromes, are informative for the study of X‐linked gene expression and of the phenomenon of X chromosome inactivation. When such translocations occur in association with multiple congenital anomaly (MCA) syndromes, the observed phenotypes are not always attributable solely to disruption of specific genes, if X‐inactivation spreads onto the translocated autosome, rendering some distal genes inactive. We report on a man with multiple congenital anomalies and a maternally inherited (X;6)(p22.1;p25) translocation. He has abnormalities not described in the Klinefelter or 6p deletion syndromes. His unique findings constitute a recognizable syndrome, which is likely caused by disomy for a region of Xp in conjunction with a partial 6p deletion. © 1994 Wiley‐Liss, Inc.
Regional proteus syndrome and somatic mosaicism
Authors: Smeets Eric , Fryns Jean‐Pierre , Cohen M. Michael 
Published: June 2005

AbstractWe report on a patient with regional manifestations of Proteus syndrome. Major findings included multiple hyperostoses of the calvaria, facial bones, and mandible. Additionally, the patient had a scleral tumor. This lends further support to the hypothesis of somatic mosaicism as a cause of Proteus syndrome. Because mosaic distribution of lesions is variable in extent, criteria for the diagnosis of Proteus syndrome should be loose rather than overly rigid even though patients with limited regional involvement may be particularly difficult to diagnose. © 1994 Wiley‐Liss, Inc.
Neurological involvement in worth type endosteal hyperostosis: Report of a family
Authors: Adès L. C. , Morris L. L. , Burns R. , Haan E. A. 
Published: June 2005

AbstractWe present the first Australian family known with autosomal dominant endosteal hyperostosis affecting a mother and her 2 children. Neurological involvement comprising chronic intracranial hypertension and cranial nerve palsies were found in the mother; computerised tomography and magnetic resonance imaging of the head demonstrated symmetrical sclerosis of the cranial vault, narrow internal auditory meati and canals, inferior herniation of the cerebellar tonsils into the foramen magnum, and encroachment of occipital bone into the foramen magnum posteriorly. This is the fifth report of significant neurologic involvement in this condition and supports the view that severe forms of endosteal hyperostosis are not confined to the autosomal recessive variant, as individuals with the autosomal dominant form may also show progression with neurological involvement in adulthood. © 1994 Wiley‐Liss, Inc.
Acrocallosal syndrome in two African brothers born to consanguineous parents
Authors: Christianson Arnold L. , Venter Philip A. , Du Toit Joan L. , Shipalana Nancy , Gericke George S. 
Published: June 2005

AbstractWe describe two mentally retarded brothers with craniofacial anomalies, polydactyly, and other clinical manifestations compatible with the acrocallosal syndrome (ACS). These are the first black patients from Africa with this diagnosis. They are also the fourth set of sibs described with ACS, and together with the parental consanguinity documented in this family, confirm autosomal recessive inheritance of this syndrome. The clinical manifestations in our patients confirm the intrafamilial variability of the syndrome. Postnatal onset of growth retardation is proposed as an additional manifestation of ACS. © 1994 Wiley‐Liss, Inc.
Mitochondrial myopathy with anemia, cardiomyopathy, and lactic acidosis: A distinct late onset mitochondrial disorder
Authors: Van Hove Johan L. K. , Shanske Sara , Ciacci Federica , Ballinger Scott , Shoffner John S. , Wallace Douglas C. , Hanioka Takashi , Folkers Karl , Bossen Edward H. , Kussin Peter S. , Kopita Jeffrey M. , Kahler Stephen G. 
Published: June 2005

AbstractA 40‐year‐old woman presented with pro found muscle weakness resulting in failure to wean from a ventilator and persistent lactic acidosis after having recovered from a pneumonia complicated by adult respiratory distress syndrome, myocardial infarction, renal failure and shock. She had a 28 year history of chronic anemia and exercise intolerance. Anemia and thrombocytopenia persisted after admission. Nonobstructive hypertrophic cardiomyopathy was present. A stroke‐like episode occurred. A mitochondrial myopathy with deficiencies in complexes IV and II was demonstrated, but no DNA defect has yet been found. This patient represents a distinct clinical presentation of a mitochondrial disorder characterized by late onset mitochondrial myopathy, chronic anemia, cardiomyopathy, and lactic acidosis. © 1994 Wiley‐Liss, Inc.
Infant with multiple congenital anomalies and deletion (9)(q34.3)
Authors: Schimmenti Lisa A. , Berry Susan A. , Tuchman Mendel , Hirsch Betsy 
Published: June 2005

AbstractWe report on a male infant with developmental delay, growth failure, hypotonia, dolichocephaly, hypoplastic midface, epicanthal folds, down‐slanting palpebral fissures, foveal hypoplasia, tracheomalacia, pectus excavatum, supraventricular tachycardia, gut malrotation, hypospadias, talipes equinovarus, short third metatarsals, capillary hemangiomata, and a de novo terminal deletion at 9q34.3. © 1994 Wiley‐Liss, Inc.
Localization of branchio‐oto‐renal (BOR) syndrome to a 3 Mb region of chromosome 8q
Authors: Wang Y. , Treat K. , Schroer R. J. , O'Brien J. E. , Stevenson R. E. , Schwartz C. E. 
Published: June 2005

AbstractBranchio‐oto‐renal (BOR) syndrome is an autosomal dominant condition of branchial arch anomalies, deafness and renal dysplasia. Clinical manifestations tend to have considerable intrafamilial and interfamilial variability. Previous linkage studies had localized the gene responsible for BOR syndrome to a broad region of chromosome 8q. Using 10 microsatellite markers, we have further refined the localization of this disorder by establishing tight linkage to two markers, D8S279 and D8S530 (Zmax = 3.91 and Zmax = 2.83 respectively at Θ = 0.00. These markers are within 1 cM of one another. Multipoint analysis, involving 7 loci, placed the gene between these markers, with a lod‐1 confidence interval 0.7 cM proximal to D8S530 and 0.6 cM distal to D8S279. © 1994 Wiley‐Liss, Inc.
Refined localization of the branchiootorenal syndrome gene by linkage and haplotype analysis
Authors: Ni Li , Wagner Michael J. , Kimberling William J. , Pembrey Marcus E. , Grundfast Kenneth M. , Kumar Shrawan , Daiger Stephen P. , Wells Dan E. , Johnson Kristin , Smith Richard J. H. 
Published: June 2005

AbstractBranchiootorenal (BOR) syndrome is a common autosomal dominant form of hearing impairment previously mapped to 8q. This report refines the localization of the BOR syndrome gene by haplotype analysis to the interval flanked by markers D8S553 and D8S286. By multipoint linkage analysis, the disease locus most likely is flanked by markers D8S530 and D8S279. © 1994 Wiley‐Liss, Inc.
GAPO syndrome in a child without dermal hyaline deposit
Authors: Phadke Shubha R. , Haldhar Ashutosh , Sharma Anita K. , Pande Rakesh , Bhatia Vijayalakshmi , Agarwal S. S. 
Published: June 2005

AbstractA 5‐year‐old girl with GAPO syndrome from India lacked PAS‐positive hyaline material in the skin biopsy from thigh and scalp. The role of this pathological change, earlier reported by Wajntal et al. [1990] in the pathogenesis of GAPO syndrome, needs to be reexamined. © 1994 Wiley‐Liss, Inc.
Microcephalic osteodysplastic dysplasia
Authors: Hersh J. H. , Joyce M. R. , Spranger J. , Goatley E. C. , Lachman R. S. , Bhatt S. , Rimoin D. L. 
Published: June 2005

AbstractWe Present two patients with a distinct facial phenotype, short stature, brachydactyly, clubfoot deformities, cataracts, microcephaly, and normal intelligence. Similar radiographic abnormalities of the spine, long bones, hands, and feet were noted. These patients are similar to 2 males previously described by Saul and Wilson [1990: Am J Med Genet 35:388–393]. These 4 patients appear to have a unique skeletal dysplasia characterized by microcephaly, distinct facial phenotype, multisystem abnormalities, and short stature of postnatal onset. © 1994 Wiley‐Liss, Inc.
Cerebrovascular stenoses with cerebral infarction in a child with Williams syndrome
Authors: Ardinger Robert H. , Goertz Kenneth K. , Mattioli Leone F. 
Published: June 2005

AbstractWe report on a patient with Williams syndrome who suffered a cerebrovascular accident. Clinical evaluation demonstrated the presence of carotid and cerebral arterial stenoses. We believe these lesions led to acute cerebrovascular ischemia and a non‐hemorrhagic cerebral infarction. It is possible the stenoses were exacerbated by a vasculitis. The stenoses were identified by both invasive and noninvasive imaging studies. These studies may have a role in the evaluation of persons with Williams syndrome. © 1994 Wiley‐Liss, Inc.