bluuebunny/crossref_metadata_2025_split huggingface dataset:
Pericentric inversion of chromosome 16 in a large kindred: Spectrum of morbidity and mortality in offspring
Authors: Bianchi Diana W. , Nicholls Robert D. , Russell Kathryn A. , Miller Wayne A. , Ellin Marvin , Lage Janice M. 
Published: June 2005

AbstractConstitutional pericentric inversions of chromosome 16 are rare in the general population. We report here a large kindred who carry an inv(16)(p13q22) rearrangement. In general, individuals with the inv(16) are in good health but prone to reproductive loss. Two different types of recombinant offspring were identified in this family and analyzed at the molecular level using probes from the α‐globin and polycystic kidney disease loci. Both were associated with serious major malformations. © 1992 Wiley‐Liss, Inc.
Renal tubular dysgenesis: A not not uncommon autosomal recessive syndrome: A review
Authors: Allanson Judith E. , Hunter Alasdair G. W. , Mettler Gabrielle S. , Jimenez Carmencita 
Published: June 2005

AbstractRenal tubular dysgenesis is a recently recognized autosomal recessive condition characterized by short and poorly developed proximal convoluted tubules, leading to oligohydramnios, Potter sequence, and neonatal respiratory failure. We report an additional 9 cases from one pediatric center, suggesting that this syndrome is not as rare as was previously thought.Normal amniotic fluid volumes in affected pregnancies prior to the 22nd week of gestation have been documented, compromising early prenatal diagnosis. Late second trimester sonographic demonstration of oligohydramnios, with structurally normal kidneys, should suggest this diagnosis and the need for detailed post‐mortem pathological examination. © 1992 Wiley‐Liss, Inc.
Neurofibromatosis 1 and osseous fibrous dysplasia in a family
Authors: Schotland Helena M. , Eldridge Roswell , Sommer Steve S. , Malawar Martin 
Published: June 2005

AbstractWe report on the consegregation of neurofibromatosis 1 (NF 1) and osseous fibrous dysplasia in a family. The father and 3 children by 2 women are affected. A fourth child had neither NF 1 nor osseous fibrous dysplasia.All 4 affected individuals had NF 1, i.e., caféau‐lait spots in 4, neurofibromata in 4, Lisch nodules in 3, macrocrania in 3, scoliosis in 2, and curvature of the long bones in 2. Each demonstrated various fibroosseous lesions of the skeleton including non‐ossifying fibromas in 3 and both non‐ossifying fibromas and fibrous dysplasia in one.This pattern suggests that the fibrous bony lesions are a component of NF 1 in this family. Alternatively, a mutant gene resulting in the fibrous changes in bone could be linked to the gene for NF 1. Another possibility is the coincidence of the 2 non‐linked traits segregating in the same family. © 1992 Wiley‐Liss, Inc.
Spondyloepiphyseal dysplasia in a cape town family: Linkage with the gene for type II collagen (COL2A1)
Authors: Ramesar Rajkumar , Beighton Peter 
Published: June 2005

AbstractA moderately severe form of autosomal dominant (AD) spondyloepiphyseal dysplasia (SED) has been documented in 14 individuals in 3 generations of a family in Cape Town, South Africa. Affected persons had a short trunk; radiographic investigations indicated that skeletal involvement was worst in the hips and spine. Linkage studies with restriction fragment length polymorphisms (RFLPs) associated with the COL2A1 gene and the phenotype yielded a maximal LOD score of 4.51 at theta = 0.00. This result suggests that the structural locus for type II collagen is primarily involved in the pathogenesis of this form of SED. © 1992 Wiley‐Liss, Inc.
Combined Goltz and Aicardi syndromes in a terminal Xp deletion: Are they a contiguous gene syndrome?
Authors: Naritomi Kenji , Izumikawa Yoshinori , Nagataki Shigetoshi , Fukushima Yoshimitsu , Wakui Keiko , Niikawa Norio , Hirayama Kiyotake 
Published: June 2005

AbstractWe report on 2 girls with a terminal deletion of the short arm of chromosome X. They had microphthalmia, cloudy corneae, mild linear skin lesions, and agenesis of corpus callosum. A comparison of clinical and cytogenetic findings in similar cases suggested that the critical genes for the Goltz and Aicardi syndromes might be contiguous in the region Xp22.31. © 1992 Wiley‐Liss, Inc.
Prenatal diagnosis with repetitive in situ hybridization probes
Authors: Lebo Roger V. , Flandermeyer Robert R. , Diukman Rony , Lynch Eric D. , Lepercq Jacques A. , Golbus Mitchell S. 
Published: June 2005

AbstractWe have used chromosome‐specific repetitive sequences to detect the most common human aneuploidies prenatally. Together chromosome 21, 13, 18, X, and Y aneuploidy comprises 95% of the chromosome abnormalities that result in a high risk of abnormal phenotypes at birth. The X, Y, and 18 repetitive probes work reliably in multiple tissue types including directly examined and cultured amniocytes, chorionic villus cells, lymphocytes, and cultured fibroblasts. The probe that detects both chromosomes 13 and 21 routinely gives results in each cell type tested except directly studied amniocytes which can be interpreted in seven‐ninths of the cases with protocol 1 and all tested samples with protocol 2. Our protocols diagnosed trisomy 21 in a 23‐week fetus with low maternal serum AFP and a trisomy 18 in a direct chorionic villus sample 2 working days after the samples were obtained. Trisomy 21 also has been ruled out in a CVS karyotype first thought to be 47,XY,+21. These studies reflect the potential value of in situ hybridization to provide a more rapid, less expensive means to screen most at‐risk fetal populations with less effort in first world cytogenetic laboratories, and to provide economical cytogenetic services in less developed countries. © 1992 Wiley‐Liss, Inc.
Analysis of sperm chromosome complements from a man heterozygous for a Robertsonian translocation 45,XY,t(15q;22q)
Authors: Martin Renée H. , Ko Evelyn , Hildebrand Kathy 
Published: June 2005

AbstractChromosome complements were studied in 118 sperm from a man heterozygous for a 15;22 Robertsonian trnaslocation using the human sperm/hamster oocyte fusion technique. Alternate segregation occurred in most spreads (89.6%) and the proportion of normal (42.6%) and balanced complements (47%) was approximately equal. The frequency of sperm that were unbalanced with respect to the translocation was 10.4% and all categories of unbalanced sperm were observed (−15, −22, +15, +22). The frequency of chromosome abnormalities unrelated to the translocation was 7.6%. Since the frequencies of both numerical (3.4%) and structural abnormalities (3.4%) were within the normal range of control donors, there was no evidence for an interchromosomal effect. The frequencies of X‐chromosome bearing (48%) and Y‐chromsome bearing (52%) sperm were not significantly different from 50%. Data on this translocation were compared to the 4 other reports of cytogenetic analysis in sperm of Robertsonian translocation carriers. © 1992 Wiley‐Liss, Inc.
A severe case of mandibuloacral dysplasia in a girl
Authors: Schrander‐Stumpel Constance , Spaepen Ann , Fryns Jean‐Pierre , Dumon Jan 
Published: June 2005

AbstractWe report on a 16‐year‐old girl with mandibuloacral dysplasia, a rare progeroid syndrome. She presented at age 2 years with thin skin on the limbs, characteristic face with prominent eyes, a pinched nose, micrognathia, and small mouth. Hair was sparse and brittle. The terminal phalanges were hypoplastic and showed acroosteolysis. On follow‐up, hands and feet showed progressive camptodactyly of fingers and toes with total loss of subcutaneous tissue. The clavicles were hypoplastic. Intelligence was normal. We review the literature on the subject and discuss differential diagnosis. © 1992 Wiley‐Liss, Inc.
Carrier detection and prenatal diagnosis of X‐linked agammaglobulinemia
Authors: Journet O. , Durandy A. , Doussau M. , Le Deist F. , Couvreur J. , Griscelli C. , Fischer A. , de Saint‐Basile G. 
Published: June 2005

AbstractWe investigated the pregnant mother of a boy with X‐linked agammaglobulinemia (XLA) but with no family history of immune disease. The X‐inactivation pattern was found, using a methylation‐sensitive probe, to be skewed in the maternal B cells but random in the polymorphonuclear cells, indicating carrier status and a 50% risk of inheritance for her male fetus. Using probes assigned to regions on either side of the XLA locus and defining RFL polymorphism, we excluded for the first time a diagnosis of XLA on a chorionic villus sample, with a risk of error <0.003. Immunological studies performed at the 19th week of gestation and 3 days after birth confirmed normality. Carrier detection based on the X‐chromosome inactivation pattern, together with prenatal studies using probes close to the disease locus, thus permits prenatal diagnosis in families with isolated cases of XLA. © 1992 Wiley‐Liss, Inc.
A reinvestigation of thirty three fragile(X) families using probe StB12.3
Authors: Macpherson James , Harvey John , Curtis Greta , Webb Tessa , Heitz Dominique , Rousseau Francois , Jacobs Patricia 
Published: June 2005

AbstractWe have reinvestigated 33 fragile X families using probe StB12.3. In 31 families the affected individual showed an insert while in 2 families no insert was detected.The insert fell into two size categories: small (< 0.5 kb); and large (> 0.6 kb) accompanied by methylation of an EagI site. All individuals of either sex having a small insert were fra(X) negative and intellectually normal, while all males having a large insert were fra(X) positive and intellectually impaired. Females having a large insert were either fra(X) positive or negative and either intellectually normal or impaired.No new mutation was found. All daughters of males with a small insert had a small insert; females with a large insert produced males and females who had a large insert, while females with a small insert had offspring with either a large or a small insert. However, females with a small insert tended to fall into one of two categories: either they had only children with a small insert or only children with a large insert, there being only one exception to this rule.We found four unexpected small inserts, two in unrelated spouses and two in female carriers who proved to be compound heterozygotes, indicating that they had inherited an insert from both their parents. These observations suggest that individuals with a small insert must be not uncommon in the general population.
Callosal agenesis, iris coloboma, and megacolon in a Brazilian boy with Rubinstein‐Taybi syndrome
Authors: Guion‐Almeida M. L. , Richieri‐Costa A. 
Published: June 2005

AbstractWe report on a Brazilian boy with Rubinstein‐Taybi syndrome (RTS) with callosal agenesis, iris coloboma, and megacolon. To our knowledge, callosal agenesis, iris coloboma, and megacolon are unusual signs within the clinical spectrum of RTS, and the present association is apparently undescribed. © 1992 Wiley‐Liss, Inc.
Acrocallosal syndrome: Report of a Brazilian girl
Authors: Guion‐Almeida M. L. , Richieri‐Costa A. 
Published: June 2005

AbstractWe report on a Brazilian girl born to nonconsanguineous parents and presenting with frontonasal dysostosis, callosal agenesis, abnormal upper lids, cleft lip/palate, redundant skin in the neck, grooved chin, and bifid thumbs. Major diagnostic criteria present in this patient are related to the acrocallosal syndrome. The clinical and major nosologic aspects of this condition are discussed. © 1992 Wiley‐Liss, Inc.
Unilateral radio‐ulnar synostosis, generalized hypotonia, developmental retardation, and a characteristic facial appearance in sibs: A new syndrome
Authors: Der Kaloustian Vazken M. , McIntosh Nathalie , Silver Kenneth , Blaichman Shirley , Halal Fahed 
Published: June 2005

AbstractWe report on 2 sibs with generalized hypotonia, developmental retardation, unilateral radio‐ulnar synostosis, and a characteristic facial appearance. We propose that they have a new autosomal recessive syndrome. © 1992 Wiley‐Liss, Inc.
X inactivation and dystrophin studies in a t(X;12) female: Evidence for biochemical normalization in Duchenne muscular dystrophy carriers
Authors: Wenger Sharon L. , Steele Mark W. , Hoffman Eric P. , Barmada Mamdouha A. , Wessel Henry B. 
Published: June 2005

AbstractA 4‐year‐old girl was identified with high creatine kinase (CK) values, and mild muscle weakness in a limb‐girdle distribution. Results of dystrophin analysis of the muscle biopsy were consistent with a manifesting heterozygote for Duchenne muscular dystrophy. In peripheral lymphocytes she had a t(X;12) (p21.2;q24.33). Late DNA replication studies demonstrated inactivation of the normal X chromosome in 99.4% of cells. Dystrophin immunofluorescence showed 64% dystrophin‐negative muscle fibers. Dystrophin content of muscle by immunoblot was approximately 5% of normal. The discordance between the percent of normal X inactivation and percent of dystrophin‐negative cells may be explained by compensatory protection of dystrophin by rare nuclei with the normal X active in multinucleated muscle fibers with shared cytoplasm. © 1992 Wiley‐Liss, Inc.
Microcephaly, lymphedema, and chorioretinal dysplasia: A distinct syndrome?
Authors: Feingold Murray , Bartoshesky Louis 
Published: June 2005

AbstractWe report on 2 unrelated patients with microcephaly, lymphedema, and chrorioretinal changes. They are compared with previously reported patients with microcephaly and lymphedema and microcephaly with chorioretinal changes. The question is raised whether all of these patients represent one entity or are separate syndromes. Until more data are available we propose that our patients represent a single entity. © 1992 Wiley‐Liss, Inc.
VACTERL with hydrocephalus: One end of the Fanconi anemia spectrum of anomalies?
Authors: Porteous M. E. M. , Cross I. , Burn J. 
Published: June 2005

AbstractTwo cases of Fanconi anemia presenting as hydrocephalus are discussed. Both infants had initially been considered to have features of VACTERL. Chromosomal breakage studies should be performed in all cases of VACTERL with hydrocephalus so that Fanconi anemia may be excluded. © 1992 Wiley‐Liss, Inc.
Hawkinsinuria in two families
Authors: Borden Margaret , Holm Jan , Leslie Jack , Sweetman Lawrence , Nyhan William L. , Fleisher Lynn , Nadler Henry , Lewis David , Scott C. Ronald 
Published: June 2005

AbstractHawkinsinuria, a disorder of tyrosine metabolism has been documented in two families in the United States, in one of which there was clear evidence of autosomal dominant inheritance. Metabolic acidosis and failure to thrive appear to be confined to infancy. Tyrosyl metabolites and 5‐oxoproline are also found only in infancy, while 4‐hydroxycyclohexylacetic acid was present only with time. The disease may be detected by organic acid analysis or by staining an electropherogram for sulfur containing compounds. © 1992 Wiley‐Liss, Inc.
Anencephaly and limb deficiencies
Authors: Rodríguez José Ignacio , Rodríguez‐Peralto José L. , Muro Marta , Urioste Miguel , Palacios José 
Published: June 2005

AbstractLimb deficiencies (LDs) are rarely reported in anencephalic infants. A review of 662 patients in the literature on non‐neural defects in an‐encephaly only showed five patients with LDs. We report on eight patients with various LDs from the records of 141 necropsies of the anencephalic infants found among 495,830 births. Compared with another group of anencephalic infants reported in the literature, the patients in this group of anencephalic infants with LDs were predominantly male, their mean gestational age was younger by approximately 5 weeks, their mean birth‐weight was approximately 1,400 g less, and they presented with a higher incidence of polyhydramnios during gestational development. The association of this pair of anomalies, which was 100 times more frequent than expected, seems not due to chance. Since all eight patients had other multiple congenital anomalies (MCA), in addition to anencephaly and LDs, the postmortem study should be mandatory in anencephalic infants with LDs. The most common associated anomalies were cardiovascular and renal defects. Oral clefts, diaphragmatic hernia, esophageal atresia, and imperforate anus were also observed in these infants. The recognition of LDs in anen‐cephalic infants indicates severe and extensive disturbance of the early embryogenesis (blastogenesis), which affects the midline of the embryo. © 1992 Wiley‐Liss, Inc.
Confirmation of assigment of a locus for rubinstein‐taybi syndrome gene to 16p13.3
Authors: Lacombe Didier , Saura Robert , Taine Laurence , Battin Jacques 
Published: June 2005

AbstractA two month‐old girl was diagnosed as a case of Rubinstein‐Taybi syndrome (RTS) on typical facial dysmorphism, broad and duplicated distal phalanges of thumbs and halluces, growth retardation and psychomotor development delay. Chromosome analysis demonstrated a de novo pericentric inversion of one chromosome 16: 46,XX,inv(16)(p13.3;q13). This association confirms assignment of a locus for RTS gene to 16p13.3, as two others translocations involving the same breakpoint have already been reported. © 1992 Wiley‐Liss, Inc.
Human smooth muscle myosin heavy chain gene mapped to chromosomal region 16q12
Authors: Matsuoka Rumiko , Yoshida Michihiro C. , Furutani Yoshiyuki , Imamura Shin‐Ichiro , Kanda Naotoshi , Yanagisawa Masashi , Masaki Tomoh , Takao Atsuyoshi 
Published: June 2005

AbstractThe partial nucleotide sequence encoding the rod portion of the entire amino acid sequence of human smooth muscle myosin heavy chain (MHC) which corresponds to MYH11, according to Human Gene Mapping nomenclature, has been determined by cloning a complementary DNA (cDNA) and sequencing the cDNA (UMYHSM). Northen blot analysis with the UMYHSM fragment (4.3 Kb) showed that the smooth muscle MHC of the human umbilical artery is expressed in the human umbilical artery, bladder, esophagus and trachea. Southern blot analysis of human genomic DNA from human‐mouse or human‐Chinese hamster somatic cell hybrids demonstrated that the human smooth muscle MHC was mapped to human chromosome 16. Regional mapping of UMYHSM was performed using human cell lines with partial deletion and trisomy of chromosome 16. As a result, the human smooth muscle MHC gene segregated with 16p11‐q12. In situ hybridization of biotin‐labeled human smooth muscle MHC probe (UMYHSM fragment) to normal human metaphase chromosome independently showed that the human smooth muscle MHC gene (MYH11) is assigned to chromosome region 16q12. Analysis of early metaphase chromosomes showed that hybridization signals were in 16q12.1. In the human, although skeletal, cardiac, smooth muscle, and nonmuscle MHC genes are mapped to chromosomes 17, 14, 16 and 22, respectively, structural similarities of these MHC genes strongly suggest the common origin of these genes. © 1993 Wiley‐Liss, Inc.
Method for sequential staining of GTL‐banded metaphases with fluorescent‐labeled chromosome‐specific paint probes
Authors: Jalal Syed M. , Law Mark E. , Christensen Eric R. , Spurbeck Jack L. , Dewald Gordon W. 
Published: June 2005

AbstractWe describe a method for use of fluorescent‐labeled whole chromosome‐specific paint probes on GTL‐banded metaphases to utilize the combined potential of these techniques for defining chromosome abnormalities. The efficacy of this method was tested on 6 cases involving different chromosome abnormalities and various tissues, including blood, amniotic fluid, skin fibroblasts, and bone marrow. © 1993 Wiley‐Liss, Inc.
Age of onset in familial early onset Alzheimer's disease correlates with genetic aetiology
Authors: Mullan Michael , Houlden Henry , Crawford Fiona , Kennedy Angus , Rogues Penelope , Rossor Martin 
Published: June 2005

AbstractAge of onset is the most robust clinical feature demarcating aetiologic subtypes of familial Alzheimer's disease. It has previously been noted that early onset disease (arbitarily below the age of 65 years) conforms to an autosomal dominant pattern of transmission. Late onset disease is generally thought to have a more complex aetiology. We present data here suggesting that early onset disease can be subdivided by genetic aetiology with which age of onset correlates. In general, those pedigrees showing linkage to the chromosome 14 locus have a mean age of onset in the forties whereas those pedigrees with an APP mutation have an age of onset in the fifties. © 1993 Wiley‐Liss, Inc.
Lack of variation in the nucleotide sequence corresponding to the transmembrane domain of the β‐amyloid precursor protein in Alzheimer's disease
Authors: Zubenko George S. , Stiffler Scott , Farr Joan , Kopp Ursula , Hughes Hugh , Kaplan Barry B. , Moossy John 
Published: June 2005

AbstractThe nucleotide sequence corresponding to the APP transmembrane domain and flanking regions of charged amino acids was determined for 91 patients with histologically confirmed Alzheimer's disease, 9 patients with dementias of other etiologies, and 14 controls who had no identifiable brain disease. Twentyeight of the AD patients had a first‐degree relative with dementia. No mutations were detected among the 100 demented patients. However, one of the 14 controls exhibited a change in the 3′ base of codon 716 which would not be expected to result in an amino acid substitution at this position. © 1993 Wiley‐Liss, Inc.
Forgotten person in the huntington disease family
Authors: Kessler Seymour 
Published: June 2005

AbstractAlthough spouses play a major role in managing the care of persons affected with Huntington disease (HD), often at the price of subordinating their own aspirations and needs, little or no professional attention has been given to them in the HD literature, Such factors as secrets kept from the spouse, the early age‐of‐onset of symptoms, gender, and the coping strategies employed by spouses of affected persons are discussed and illustrated. Also, the impact of predictive testing for HD on spouses of persons undergoing testing is briefly touched on. © 1993 Wiley‐Liss, Inc.
XLPRA: A canine retinal degeneration inherited as an X‐linked trait
Authors: Acland Gregory M. , Blanton Susan H. , Hershfield Bennett , Aguirre Gustavo D. 
Published: June 2005

AbstractBreeding studies are reported of a previously undescribed hereditary retinal degeneration identified in the Siberian Husky breed of dog. This disorder clinically resembles the previously reported autosomal recessive canine hereditary retinal degenerations collectively termed progressive retinal atrophy (PRA). However, the pedigree of the propositus, a male Siberian Husky, exhibited an X‐linked pattern of transmission. This dog was outcrossed to three phenotypically normal female laboratory Beagles and two of their F1 daughters were bred to a phenotypically normal male Beagle, producing affected males in the F2 generation. Subsequent inbreedings produced further affected males and affected females as well. X‐linked transmission was established by exclusion of alternative modes of inheritance and, consequently, the disease has been termed X‐linked progressive retinal atrophy (XLPRA).This is the first reported X‐linked retinal degeneration in an animal. Because of the many similarities of PRA in dogs to retinitis pigmentosa (RP) in humans, this new disease may not only represent the first animal model of X‐linked RP (XLRP) but may well be a true homolog of one of the XLRP loci (RP2, RP3, RP6). It is the first retinal degeneration in dogs that can be assigned to an identified canine chromosome, and the first for which linkage mapping offers a realistic approach to proceed by positional cloning towards identifying the responsible gene locus. © 1994 Wiley‐Liss, Inc.