bluuebunny/crossref_metadata_2025_split huggingface dataset:
XLMR genes: Update 1992
Authors: Neri Giovanni , Chiurazzi Pietro , Arena Fernando , Lubs Herbert A. , Glass Ian A. 
Published: June 2005

AbstractUp to now, we have identified 77 X‐linked conditions in which mental retardation is the primary or a major component manifestation. These conditions were subdivided into 2 categories, designated respectively “X‐linked mental retardation syndromes” and “Non‐specific X‐linked mental retardation”. Forty genes have been regionally mapped onto the X chromosome. However, in several instances the data were derived from a single family and most lod scores were less than 3.0.
Localization of non‐specific X‐linked mental retardation genes
Authors: Kerr Bronwyn , Gedeon Agi , Mulley John , Turner Gillian 
Published: June 2005

AbstractGene localization was determined by linkage analysis in 5 families with non‐specific X‐linked mental retardation (MRX) and were MRX1, Xp11.4‐q21.31; MRX10, Xp21.3‐p11.4; MRX11, Xp21.3‐p11.22; MRX12, Xp21.3‐q21.1; and MRX13, Xp22.3‐q21.22. Four of these localizations cross the dystrophin brain promoter, a candidate locus for MRX. None of the affected individuals who were tested showed variation suggestive of a deletion. No consistent clinical features were observed between or within 4 of the 5 families. In MRX12, prematurity or low birth weight, hypotelorism and short stature were seen in several affected males. Heterozygote manifestations occurred in 3 families. There was no evidence to suggest involvement of the same gene in more than one family, nor to clinically separate these families into distinct genetic entities. Non‐overlapping localizations for MRX1 and MRX10 demonstrate the existence of at least 2 separate loci among these 5 families.
Use of linkage data obtained in single families: Prenatal diagnosis of a new X‐linked mental retardation syndrome
Authors: Mulley John C. , Gedeon Agi K. , Wilson Sue , Haan Eric A. 
Published: June 2005

AbstractPrenatal diagnosis was requested by an obligate carrier of a new syndrome of X‐linked mental retardation. There was close linkage between the disease gene and the hypervariable VNTR marker DXS255 with a lod score of 4.82 at O=0 (90% support interval 0.00–0.12). When the request for prenatal diagnosis was made, additional family members were examined, resulting in an amended lod score of 6.71 at O=0.0 (90% support interval 0.00–0.09). There were no informative flanking markers at the time of the request for prenatal diagnosis; hence it proceeded by 2 point linkage analysis. The fetus was female with a carrier risk in the interval of 91–100%.Given the limitations of the mapping data available for this disorder at the time of the request, the options of accepting or rejecting this as a case for prenatal diagnosis were carefully considered. Whilst prenatal diagnosis based on fetal sexing would be sufficient to prevent the birth of an affected child, the magnitude of the known two‐point lod score between DXS255 and the disease gene provided a means for diagnosis with an accuracy between 91 and 100%.
Aarskog syndrome: The changing phenotype with age
Authors: Fryns J. P. 
Published: June 2005

AbstractWe describe the Leuven experience with 52 males with Aarskog syndrome particularly with respect to clinical variability, changing phenotype with age, and previously unreported signs.At least 30% of affected males were mentally retarded, two thirds of them at the level of slight mental handicap. Hyperactive behavior and symptoms of attention deficit disorders were frequently observed (61% of the mentally normal and 84% of the mentally subnormal), but regressed completely after the age of 12 to 14 years. The social integration and functioning as adults is satisfactory. Postpubertal males with Aarskog syndrome have only minor remnant manifestations of the prepubertal phenotype, making clinical diagnosis in adults extremely difficult.
Congenital X‐linked ataxia, progressive myoclonic encephalopathy, macular degeneration and recurrent infections
Authors: Bertini Enrico , Cusmai Raffaella , de Saint Basile Genevieve , Le Deist Françoise , Di Capua Matteo , Gaggero Di Roberto , Dionisi‐Vici Carlo , Santillo Clemente , Caniglia Maurizio 
Published: June 2005

AbstractWe report on 2 boys (maternal cousins), with severe congenital ataxia with generalized hypotonia, psychomotor retardation and recurrent bronchopulmunary infections. Later, they developed myoclonic encephalopathy and macular degeneration. Serial brain imaging investigations showed a cyst of the septum pellucidum, persistence of the cavum vergae, corpus callosum and cerebellar vermis hypoplasia without cortical atrophy. In the maternal pedigree, 5 males had recurrent bronchopneumonia associated with severe congenital hypotonia and died during the first years of life. Neurophysiological studies, including nerve conduction velocities, brainstem auditory evoked responses, somatosensory evoked potentials were normal. Electroretinogram showed normal wave morphology. Visual evoked potentials were mildly impaired. Extensive screening for metabolic disease gave normal results. Immunologic investigations showed normal T and B cell number, T cell function and immunoglobulin levels in both patients with a reduced level of IgG2 subclass in one.
X‐linked mental retardation and characteristic physical features in two brothers with duplication Xp22‐Xpter
Authors: Cianchetti Carlo , Muntoni Francesco , Falchi Angela‐Maria , Nucaro Annalisa , Sannio‐Fancello Giuseppina , Cao Antonio , Marrosu Maria‐Giovanna 
Published: June 2005

AbstractTwo brothers are reported who share mental retardation, conjuntival teleangectasias (mainly equatorial) and characteristic flat face with small mouth and thin prolabia. At the neuropsychological examination, the older brother at 14 years showed a full scale IQ of 40 (WISC), with verbal IQ 45 and performance IQ 44. The younger brother at 7 years showed a full scale IQ of 58 (WPPSI), with verbal IQ 67 and performance IQ 55. Chromosome studies showed a duplication Xp22‐Xpter in both brothers and in the inactivated X of their mother. The anomaly was not present in a 3rd healthy brother and in other healthy relatives. The mother has normal intelligence and did not present any of the physical features of her affected sons.
Molecular and cytogenetic investigation of complex tissue‐specific duplication and loss of chromosome 21 in a child with a monosomy 21 phenotype
Authors: Krasikov Natalie , Takaesu Norma , Hassold Terry , Knops Judith F. , Finley Wayne H. , Scarbrough Paula 
Published: June 2005

AbstractSeveral recent molecular studies have suggested that the clinical phenotype of Down syndrome may be due to triplication of 21q22 [McCormick et al., 1989] as initially suggested by Niebuhr [1974], and perhaps just 21q22.2 [Korenberg et al., 1989, 1990; Rahmani et al., 1989]. Recently, we studied a patient with a phenotype inconsistent with Down syndrome, whose lymphocyte karyotype on several occasions detected only 46,XX,−21,+dic(21)(qter→p11::p11→qter). Combined karyotype and molecular studies on both lymphocytes and fibroblasts allowed correct identification of the abnormality as a complex monosomy/trisomy 21 mosaicism involving a marker derived from idic (21) (p11), and probable assignment of a maternal origin for the error(s). The patient's phenotype was found to be most consistent with monosomy 21. Detailed study of our patient underscores (1) the need for confirmation that there is phenotype/karyotype correlation and (2) the usefulness of molecular analyses to complement the cytogenetic interpretation of marker chromosomes. © 1992 Wiley‐Liss, Inc.
Vascular abnormalities at the site of limb deficiency
Authors: Hall Bryan D. 
Published: June 2005

AbstractA case is presented of a child born with a left forearm deficiency and a cavernous hemangioma covering the tip of the forearm and left elbow. Points relative to the potential associations of vascular abnormalities and limb deficiencies are discussed. © 1992 Wiley‐Liss, Inc. © 1992 Wiley‐Liss, Inc.
Nail‐Patella syndrome in a spontaneously aborted 18‐week fetus: Ultrastructural and immunofluorescent study of the kidneys
Authors: Drut Rosa Monica , Chandra Sunita , Latorraca Rocco , Gilbert‐Barness Enid 
Published: June 2005

AbstractNail‐patella syndrome (NPS), hereditary onycho‐osteodysplasia, is an autosomal dominant disorder of nail dystrophy, patellar absence or hypoplasia, incomplete elbow extension, conical posterior iliac horns, and nephropathy.We studied the kidneys of an 18‐week spontaneously aborted fetus of a mother with the NPS. Ultrastructural examination of the kidney showed thickening of the capillary walls of the glomeruli and mesangium. There was irregular thickening of basement membranes with subendothelial fibrillar electron‐dense deposits. Immunofluorescence showed fibrinogen deposition in glomerular basement membranes. Fibrinogen deposition in utero may ultimately lead to glomerular fibrosis and intrabasement membrane collagen deposition as seen in the adult renal lesion of this syndrome.This is the first report of the NPS in which the renal abnormalities have been studied in a fetus. These findings provide support for possible prenatal diagnosis of NPS by intrauterine kidney biopsy. © 1992 Wiley‐Liss, Inc.
Reciprocal translocation t(1;15)(p36.2;p11.2): Confirmation of a suggestive cytogenetic diagnosis by in situ hybridization and clinical case report on resulting monosomy (1p)
Authors: Barbi Gotthold , Kennerknecht Ingo , Klett Christine 
Published: June 2005

AbstractA newborn girl with generalized muscular hypotonia and minor anomalies was referred for chromosome analysis. Cytogenetic investigation showed a satellite and an Ag‐positive NOR on the distal short arm of one chromosome 1, thus indicating an unbalanced translocation involving the short arm of an acrocentric chromosome. The phenotypically normal mother had the same satellited chromosome 1 with Ag‐positive NOR. One chromosome 15 was the only acrocentric chromosome in her karyotype lacking recognizable satellites and an Ag‐positive NOR. Thus a balanced reciprocal translocation between the short arms of chromosomes 1 and 15 in the mother was suggested. The cytogenetic diagnosis was confirmed by nonradioactive in situ hybridization with the most distal DNA probe on chromosome 1, the probe p1‐79, localized at chromosome band 1p36.3. The probe was biotinylated by nick‐translation, and detection was done by FITC labelled avidin binding. Hybridization signals were observed on both the mother's normal chromosome 1 and the derivative chromosome 15 but not on her derivative chromosome 1. Consequently, the index patient has an unbalanced karyotype with monosomy (1p36.3). Comparing their clinical reports shows that patients with similar terminal deletions of 1p share several manifestations. © 1992 Wiley‐Liss, Inc.
Familial aplasia cutis congenita and coarctation of the aorta
Authors: Dallapiccola B. , Giannotti A. , Marino B. , Digilio C. , Obregon G. 
Published: June 2005

AbstractWe report on the association of aplasia cutis congenita (ACC) in the midline of the scalp vertex and coarctation of the aorta (CA) in mother and son. The acronym of ACCCA syndrome is proposed for this condition. Autosomal dominant inheritance is most commonly implicated in the familial cases of ACC. The familial aggregation of CA is attributed, in general, to a multi‐factorial causation, with a few reported families suggesting autosomal dominant inheritance. The ACCCA syndrome could be due to a Mendelian mutation. © 1992 Wiley‐Liss, Inc.
TAR‐like syndrome in a consanguineous Mayan girl
Authors: Ceballos‐Quintal Jose M. , Pinto‐Escalante Doris , Gongora‐Biachi Renan A. 
Published: June 2005

AbstractWe report on a 3‐month‐old girl with a TAR‐like syndrome. Her older brother died with a similar disorder at 3 months of unknown causes. The parents are second cousins of Mayan ancestry. The infant also had, in addition to the usual abnormalities of TAR syndrome, depressed nasal bridge, cataracts, glaucoma, megalocorneae, and blue sclerae. © 1992 Wiley‐Liss, Inc.
Genetic evidence that Turcot syndrome is not allelic to familial adenomatous polyposis
Authors: Tops Carli M. J. , Vasen Hans F. A. , Henegouwen Gerard van Berge , Simoons Peter P. , van de Klift Heleen M. , van Leeuwen Inge S. J. , Breukel Cor , Fodde Riccardo , den Hartog Jager Frieda C. A. , Nagengast Fokko M. , Griffioen Gerrit , Khan P. Meera 
Published: June 2005

AbstractTurcot syndrome (TS) is a rare genetic disease in which brain tumors occur in association with colonic polyposis. Since Turcot's original description in 1959, there have been disagreements about the mode of inheritance as well as the clinical expression of this condition. Some investigators maintain that TS is a phenotypic variant of the autosomal dominant familial adenomatous polyposis (FAP), while others observe that there are clinical differences between TS and FAP, and that the pattern of inheritance of TS is autosomal recessive.The distribution of persons with colonic lesions in a family with a patient of colonic polyposis and a brain tumor, described in this report, favored the recessive hypothesis. In this family, the involvement of the FAP gene on chromosome 5q21–q22 could be excluded by a linkage study using a panel of FAP‐linked DNA markers.This finding, which indicates the occurrence of another polyposis gene elsewhere in the genome, will have consequences for the presymptomatic diagnosis of FAP by linked DNA markers. We conclude that TS is a distinct clinical‐genetical entity with the triad of atypical polyposis coli, CNS tumors, and a recessive mode of inheritance. © 1992 Wiley‐Liss, Inc.
Oculoauriculovertebral anomaly: Segregation analysis
Authors: Kaye Celia I. , Martin Alice O. , Rollnick Beverly R. , Rollnick R. , Nagatoshi Konrad , Israel Jeannette , Hermanoff Mark , Tropea Brad , Richtsmeier Joan T. , Morton Newton E. 
Published: June 2005

AbstractSeventy‐four families of probands with oculoauriculovertebral anomaly were evaluated, including 116 parents and 195 off‐spring. Relatives were examined to identify ear malformations, mandibular anomalies, and other craniofacial abnormalities. For segregation analysis using POINTER, selection of the sample was consistent with single as‐certainment. Different population liabilities were used for probands and relatives, because affection was narrowly defined for probands and broadly defined for relatives. The hypothesis of no genetic transmission was rejected. The evidence favored autosomal dominant inheritance; recessive and polygenic models were not distinguishable. © 1992 Wiley‐Liss, Inc.
Ophthalmological, skeletal, and cardiac abnormalities in sibs born to consanguineous parents: A new syndrome?
Authors: dos Santos Rita de Cassia Stocco , Castro Nelson H. C. , Ferraz Oilita Pereira , Walter‐Moura Janete , Mustachi Zan , Pagnan Nina A. B. , Gollop Thomaz R. 
Published: June 2005

AbstractWe report on a sibship from a consanguineous couple consisting of one boy with anophthalmia, one boy with buphthalmos and multiple congenital skeletal, muscle, and cardiac abnormalities, and a stillborn girl with anophthalmia and cardiac and skeletal abnormalities. A possible new syndrome of autosomal recessive inheritance and variable expressivity is discussed, comparing this report with others. © 1992 Wiley‐Liss, Inc.
Clinical variability and genetic heterogeneity within the Acadian Usher population
Authors: Smith Richard J. H. , Pelias Mary Z. , Daiger Stephen P. , Keats Bronya , Kimberling William , Hejtmancik J. Fielding 
Published: June 2005

AbstractA number of Usher syndrome (USH) families are found among the French‐Acadians living in southwestern Louisiana. These families are descended from a few common ancestors, suggesting that USH may be homogeneous within this ethnic group. However, we report distinct phenotypic variability. Based on differences in psychomotor development and tests of auditory and vestibular function, Acadian individuals with both USH Type 1 and Type 2 can be identified. One additional family, with unusual findings, represents a third clinical phenotype. Linkage data strongly support these clinical observations. © 1992 Wiley‐Liss, Inc.
Diagnosis of arylsulfatase A deficiency
Authors: Li Z. G. , Waye J. S. , Chang P. L. 
Published: June 2005

AbstractMetachromatic leukodystrophy (MLD) is a neurologically devastating autosomal recessive disorder in humans associated with deficient arylsulfatase A activity. However, clinically normal individuals described as being pseudo‐arylsulfatase‐A deficient also demonstrate the same deficiency. Genotypically, they may be homozygous for the pseudodeficiency mutation (associated with 2 A→G transitions in the cDNA of arylsulfatase A) or heterozygous with one pseudodeficiency and one MLD allele. Using as examples 2 families in which the pseudo deficiency condition occurs either independently or together with MLD, we demonstrate the utility of a proposed diagnostic protocol to provide complete genotype identification of individuals suffering from arylsulfatase A deficiency. Patient fibroblasts are extracted for DNA and a cytoplasmic fraction, which is used for arylsulfatase A enzyme assay. This will identify an arylsulfatase A‐deficient group, which is further analyzed electrophoretically. Cells from the clinically affected patients with MLD are completely deficient in arylsulfatase A activity, whereas those from the pseudodeficient individuals demonstrate a characteristic residual arylsulfatase A activity detectable only after electrophoresis. Within this pseudodeficient group, gene amplification of DNA specific for the A→G mutations will distinguish between those who are homozygous for the pseudodeficiency allele and those who are compound heterozygous for the pseudodeficiency and MLD alleles. This protocol of complete genotype identification requires only about 106 fibrobalsts (1 × 100 mm dish) and 2 days to complete. Such variant‐specific genotype identification increases accuracy and prognostic value of the diagnosis. It will likely become the preferred choice for diagnosis of genetic disease in the future as more variant‐specific mutations are identified at the molecular level. © 1992 Wiley‐Liss, Inc.
Weissenbacher‐Zweymüller syndrome: A distinct autosomal recessive skeletal dysplasia
Authors: Chemke Juan , Carmi Rivka , Galil Aharon , Bar‐Ziv Yaakov , Ben‐Ytzhak Ilan , Zurkowski Loretta 
Published: June 2005

AbstractThe Weissenbacher‐Zweymüller syndrome (WZS) is defined as congenital neonatal rhizomelic dwarfism with metaphyseal widening of the long bones and vertebral coronal clefts. Catch‐up growth after 2–3 years is one of the striking manifestations. It is generally thought that WZS is a neonatal expression of the Stickler syndrome, even though in the latter, myopia, retinal detachment and a progressive metaphyscal dysplasia are characteristics that are not found in WZS. A critical analysis of all published patients with WZS in addition to 5 patients in 3 new families, shows that the WZS is a distinct syndrome of delayed skeletal maturation, different from the Stickler syndrome, and inherited as an autosomal recessive trait. The recognition of its unique characteristics has important implications in genetic counseling. © 1992 Wiley‐Liss, Inc.
VACTERL or MURCS association in a girl with neurenteric cyst and identical thoracic malformations in the father: A case of gonosomal mosaicism?
Authors: Örstavik Karen Helene , Steen‐Johnsen Jon , Foerster Arnold , Fjeld Tore , Skullerud Kari , Lie Sverre O. 
Published: June 2005

AbstractWe report on a female infant with lethal congenital amalformations including extreme hydrocephalus due to aqueductal stenosis, vertebral segmentation anomalies, fused costae, anal atresia, renal dysplasia, and bicornuate uterus with a double blind vagina. The VAC‐TERL and the MURCS associations are possible diagnoses. Her father had a neurenteric cyst in infancy. He has identical vertebral and costal malformations as his daughter but is otherwise healthy. The possibility of dominant inheritance with gonosomal mosaicism in the father is discussed. © 1992 Wiley‐Liss, Inc.
Complementary duplication and deletion of 17 (pcen→p11.2): A family with a supernumerary chromosome comprised of an interstitially deleted segment
Authors: Friedman J. M. , Harrod M. J. E. , Howard‐Peebles P. N. 
Published: June 2005

AbstractA sister and brother were investigated because both were developmentally delayed although they had somewhat different physical anomalies. The girl was found to have an interstitial deletion of chromosome 17. Her karyotype was 46,XX,del(17) (pter→p11.2:: cen→qter). Her brother had normal chromosomes in peripheral lymphocytes. Cytogenetic investigation of the mother showed the presence of the same deletion as in her daughter and a small supernumerary chromosome. The supernumerary chromosome appeared to contain the material deleted from the short arm of 17 since the mother's phenotype was normal. Study of skin fibroblasts in her son showed that he was mosaic for a normal cell line and one that contained the extra small chromosome; thus, he had mosaic partial trisomy 17(cen→p11.2). The origin of the centromere and telomere(s) of the small supernumerary chromosome in this family presents an interesting problem. © wiley‐Liss, Inc.
Early neurological manifestations and brain anomalies in marden‐walker syndrome
Authors: García‐Alix Alfredo , Blanco Dorotea , Cabañas Fernando , Sanchez Pilar Garcia , Pellicer Adelina , Quero Jose 
Published: June 2005

AbstractWe report on an infant with the Marden‐Walker syndrome. In addition to the consistent neurological abnormalities described previously in this syndrome, the infant had a striking neurological constellation, absence of primitive reflexes, jerky eye movements, failure to habituate to repeated stimuli, inadequate behavior development, and absence of orientation responses to visual or auditory stimuli. Muscle biopsy showed a similar pattern to the congenital fiber‐type disproportion. Ultrasonograms and magnetic resonance imaging of his brain demonstrated absence of corpus callosum, colpocephaly, hypoplastic brainstem, hypoplasia of the inferior vermis and of the cerebellar hemispheres. These findings further delineate this syndrome and suggest that prenatal central nervous system (CNS) dysfunction, mainly of the cerebellum and brainstem, may play a significant role in the pathogenesis of the Marden‐Walker syndrome. © 1992 Wiley‐Liss, Inc.
Familial intestinal malrotation with midgut volvulus and facial anomalies: A disorder involving a gene controlling the normal gut rotation?
Authors: Stalker Heather J. , Chitayat David 
Published: June 2005

AbstractWe report on 2 sisters with congenital midgut volvulus. Both had similar facial changes different from those of their parents and the other 2 unaffected sibs. Both parents had normal barium meal roentgenograms. The occurrence of these abnormalities in sibs born to parents with apparently normal gastrointestinal tract anatomy suggest autosomal recessive inheritance, although a coincidence, multifactorial or autosomal dominant inheritance with nonpenetrance in either of the parents cannot be excluded. © 1992 Wiley‐Liss, Inc.