bluuebunny/crossref_metadata_2025_split huggingface dataset:
Nonreciprocal and jumping translocations of 15q1→qter in Prader‐Willi syndrome
Authors: Rivera H. , Zuffardi O. , Gargantini L. 
Published: June 2005

AbstractWe analyzed 33 cases of Prader‐Willi syndrome (PWS) (including 2 personal observations) with translocations of 15q1 → qter onto the terminals of different, apparently whole chromosomes. In all but one of the 23 informative cases the translocations was de novo. Thirty of the patients were unbalanced and 27 had a 45‐chromosome constitution compatible with a 3:1 segregation. One balanced and 2 unbalanced translocations were jumping ones. The possible existence of actual non‐reciporcal translocations in man is indicated by the following considerations about these and other PWS‐associated rearrangements: (1) The observed excess of de novo translocations; (2) the relatively frequent familial occurrence of reciprocal 15q translocations; (3) the concurrence in 3 terminal translocation cases of an idic (15); (4) the visualization of jumping terminal translocations as simple transpositions rather than as successive reciprocal exchanges; (5) the predominance of true isodicentrics in PWS patients with extra inv dup(15) chromosomes; and (6) the rarity of extra derivatives resulting in 15q proximal tertiary trisomy. Additional findings in the present series were normal parental age in the de novo 45‐chromosome cases, an apparently random distribution of telomeric breakpoints, and the occurrence of different breakpoints within the 15q1 region.
Clonal lines of aneuploid cells in Rothmund‐Thomson syndrome
Authors: Der Kaloustian Vazken M. , McGill James J. , Vekemans Michel , Kopelman Hinda R. 
Published: June 2005

AbstractWe report on a 21‐month‐old white boy with the Rothmund‐Thomson syndrome. The karyotype on fibroblasts from an area of skin with poikiloderma showed the 46,XY,17+der(17),t(2;17)(q11;p13) pattern. Karyotype on fibroblasts from normal skin showed two different abnormal patterns: 47,XY,+8 and 47,XY,+i(2q). His lymphocytes had a normal 46,XY pattern.These findings indicate in vitro abnormalities. They are explained by a degree of chromosomal instability.
Cerebral palsy in multiple births in Western Australia: Genetic aspects
Authors: Petterson Beverly , Stanley Fiona , Henderson Diane 
Published: June 2005

AbstractA study of cerebral palsy in multiple births was undertaken to test genetic involvement and assess the impact of the special conditions of pregnancy and parturition in these cases.Complete ascertainment of cerebral palsy in multiple gestations that occurred in Western Australia between 1956 and 1985 was obtained from the Western Australian Cerebral Palsy Register. There were 74 twins and 5 triplets.Data on sex, birth order, motor handicap, outcome in co‐twins and triplets, zygosity, and pedigree information was obtained from the Register, hospital records, and, where possible, by interview of the parent(s) of the propositi.There was a significantly higher (P = 0.0026) concordance rate in MZ than in DZ twin pairs. However, pedigree studies showed no other relatives with a motor handicap similar to that of the propositi. This is consistent with a multifactorial cause in at least some of the cases.The sex ratio of affected twins was found to be 2.1 compared to 1.3 for singletons and all 5 affected triplets were boys. The trend of increasing sex ratio with increasing plurality was significant at the 1% level.
Agenesis or hypoplasia of major salivary and lacrimal glands
Authors: Milunsky Jeffrey M. , Lee Victor W. , Siegel Benjamin S. , Milunsky Aubrey 
Published: June 2005

AbstractWe described a young man with almost total absence of the parotid glands, hypoplasia of both lacrimal glands, marked hypofunction of both submandibular glands, and left nasolacrimal duct atresia. Lack of tearing, severe dental caries, and conjunctival scarring following chronic xerophthalmia and conjunctivitis serve to alert pediatricians to this autosomal dominant disorder with considerable variation in expressivity.
Tissue limited mosaicism in a patient with tetrasomy 9p
Authors: Papenhausen Peter , Riscile Gisele , Miller Karen , Kousseff Boris , Tedesco Thomas 
Published: June 2005

AbstractCytogenetic analysis of an abnormal newborn girl showed an extra chromosome with the characteristics of an isodicentric 9p chromosome [idic (9)(pter→q12→pter)] in 98% of peripheral lymphocyte metaphases examined. This cytogenetic interpretation was substantiated by quantitative measurement of erythrocyte galactose‐1‐P‐uridyltransferase (GALT) activity, which is consistent with the expression of 4 normal GALT genes. Cytogenetic results from skin fibroblasts showed mosaicism with only 11% of the metaphases having the extra chromosome. Selective genetic pressure based on a functional disadvantage of tetrasomy 9p in the skin is proposed. The in vivo establishment of cytogenetically normal cells in various tissues may be necessary for in utero survival of tetrasomy 9p infants.
Thymic‐renal‐anal‐lung dysplasia in sibs: A new autosomal recessive error of early morphogenesis
Authors: Rudd Noreen L. , Curry Cynthia , Chen Karl T. K. , Capusten Bernice , Trevenen Cynthia L. 
Published: June 2005

AbstractWe report on 3 sisters with a syndrome of unilobed or absent thymus, renal and ureter agenesis/dysgenesis, and intrauterine growth retardation (IUGR). Two of the 3 infants had a unilobed lung and imperforate anus. Recurrence was detected prenatally by the presence of progressive oligohydramnios and IUGR, a unilateral echogenic cystic mass in the renal fossa, and low amniotic fluid disaccharidases in association with an imperforate anus. Several genetic mechanisms can be invoked to explain this occurrence including autosomal recessive inheritance and an unrecognized chromosome imbalance.
“C” trigonocephaly syndrome: Clinical variability and possibility of surgical treatment
Authors: Lalatta F. , Bagozzi D. Clerici , Salmoiraghi M. G. , Tagliabue P. , Tischer C. , Zollino M. , Di Rocco C. , Neri G. , Opitz J. M. 
Published: June 2005

AbstractWe report on 3 new cases of C trigonocephaly syndrome. In addition to the findings characteristic of this condition, one of the patients also had a large omphalocele. This patient was referred from a suburban hospital with a diagnosis of Down syndrome, stressing the fact that C syndrome is still under‐recognized and underdiagnosed. Another patient was diagnosed at birth and immediately submitted to craniosynostectomy. A second operation was performed 7 months later resulting in normal brain growth and close to normal psychomotor development at 3 years, in contrast to the third patient, who was not treated surgically and was severely retarded at 4 years.
Phenotypic overlap of Ehlers‐Danlos syndrome types IV and VIII
Authors: Hartsfield Jr. James K. , Kousseff Boris G. 
Published: June 2005

AbstractAn 18‐year‐old Caucasian woman has been followed since age 12 years for Ehlers‐Danlos syndrome (EDS) with easy bruisability and “cigarette paper scars.” Her chief complaint at age 17 years was tooth mobility, especially in the anterior mandible, necessitating the removal of the four incisors. Initial biochemical analysis of cultured skin fibroblasts indicated the presence of pepsin‐sensitive type III collagen. Subsequent analysis of cultured skin fibroblasts by the same laboratory and another laboratory found no abnormality in the type III collagen with or without protease treatment. This is in distinction to the finding of abnormal type III collagen in the only two reported patients with EDS and early‐onset periodontitis who have had collagen analyses. One of them was diagnosed as EDS type IV and the other as EDS type VIII, although the defects of type III collagen were consistent with EDS type IV. The defect in type III collagen in some patients with early periodontitis and the considerable overlap of the clinical manifestations of EDS types IV and VIII point out the need for further studies of collagen formation and maturation in any patient who has early periodontitis and who has been classified with EDS type IV or VIII.
A child with multiple congenital anomalies and karyotype 46,XY,del(14)(q31q32.3): Further delineation of chromosome 14 interstitial deletion syndrome
Authors: Gorski Jerome L. , Uhlmann Wendy R. , Glover Thomas W. 
Published: June 2005

AbstractWe report on an infant with a multiple congenital anomaly syndrome and severe developmental delay in association with a previously undescribed de novo interstitial deletion of chromosome 14 [karyotype: 46,XY,del(14) (q31q32.3)]. Comparison of the presented patient with previously reported cases of interstitial and terminal chromosome 14q deletions provides a group of patients monosomic for various overlapping portions of the distal half of chromosome 14q and suggests a limited similarity in phenotype among patients with common deleted 14q segments. All patients with distal 14q deletions were developmentally delayed, most were microcephalic and failed to thrive. Most of the patient's anomalies were limited to the face and head. Few major internal congenital anomalies were observed. These comparisons serve to further clarify possible associations of subchromosomal aberrations with specific phenotypes.
Terminal deletion 6P23: A case report
Authors: Kormann‐Bortolotto M. H. , Farah L. M. S. , Soares D. , Corbani M. , Müller R. , Adell A. C. A. 
Published: June 2005

AbstractWe report on a girl with cleft lip and cleft palate, antimongoloid slant of the palpebral fissures, umbilical hernia, skeletal anomalies, partial syndactyly, hypertonia with increased deep tendon reflexes, psychomotor and growth retardation, and other congenital anomalies. Cytogenetic studies demonstrated a 46,XX,del(6)(qter→p23:) chromosome constitution.
Aminopterin‐like syndrome sine aminopterin associated with translocation involving chromosomes 5 and 10
Authors: Chen Moy‐Fong , Vekemans Michel , Meagher‐Villemure K. , Outerbridge Eugene , Fraser F. Clarke , Der Kaloustian Vazken M. 
Published: June 2005

AbstractWe studied a baby born with physical features suggestive of the aminopterin syndrome, but without exposure of the mother to aminopterin during pregnancy.G‐banded chromosomes from peripheral blood lymphocytes had a normal 46,XX pattern. However, in 50 skin fibroblasts there was a normal female karyotype in 5 cells and 45 cells showed an apparently balanced reciprocal translocation involving the long arm of chromosome 5 (band q35) and the long arm of chromosome 10 (band q22). The relation of this mosaicism to the abnormal phenotype is unclear.
Dermatoglyphics in the identification of women either with or at risk for breast cancer
Authors: Seltzer Murray H. , Plato Chris C. , Fox Kathleen M. 
Published: June 2005

AbstractFingerprints and palm prints were studied in 78 breast cancer patients, 391 patients at increased risk for developing breast cancer, and 64 control patients for the purpose of finding a pattern that would identify those women with breast cancer or those who are predisposed to its development.A pattern of 6 or more digital whorls was identified more frequently in women with breast cancer than in those without the disease (P<0.01). This finding was independent of known risk factors for breast cancer and was present in 28% of the cancer patients. No correlation was noticed between palm prints and breast cancer.The positive predictive value of 6 or more digital whorls was comparable to that of mammography and that of breast biopsy. With increasing age there was an increase in the positive predictive value associated with 6 or more digital whorls.It is concluded that digital dermatoglyphics may have a future role in identifying women either with or at increased risk for breast cancer such that either risk reduction measures or earlier therapy may be instituted.
Concurrence of robinow syndrome and Crigler‐Najar syndrome in two offspring of first cousins
Authors: Nazer Hisham , Gunasekaran Thirumazhisai S. , Sakati Nadia A. , Nyhan William L. 
Published: June 2005

AbstractRobinow syndrome and Crigler‐Najar syndrome were encountered in 2 Saudi offspring of first cousins. Both died at age 4 months. The parents lost 2 previous children at age 2 months with progressive jaundice but without fetal facial characteristics.
Satisfaction with genetic counseling: Dimensions and measurement
Authors: Shiloh Shoshana , Avdor Orit , Goodman Richard M. 
Published: June 2005

AbstractPatient satisfaction has become a significant issue in evaluating medical care, although it has been largely neglected in genetic counseling. A 32‐item questionnaire was designed to examine patient satisfaction and was administered to 76 clients in a genetic counseling center, and 56 parents attending a pediatric outpatient clinic (the control group). Factor analysis showed 3 dimensions to satisfaction with genetic counseling: instrumental, affective, and procedural. The general level of satisfaction was found to be lower in the genetic counseling group than in the control group. This finding was interpreted as expressing basic properties of genetic counseling. The most important determinant of satisfaction with the content of information provided in counseling. Some affective and procedural aspects of genetic clients' general sense of satisfaction, as compared to the control subjects.
Tetralogy of Fallot in three sibs
Authors: Pankau Rainer , Siekmeyer Werner , Stoffregen Regina 
Published: June 2005

AbstractWe report on three sibs (2 boys, one girl) with tetralogy of Fallot from non‐consanguineous parents. The first child died during corrective surgery in 1972 from irreversible right ventricular failure. Corrective surgery was successful in the 2nd son and the daughter. The occurrance of tetralogy of Fallot in 3 sibs suggests a recessive gene.
The syndrome of Möbius sequence, peripheral neuropathy, and hypogonadotropic hypogonadism
Authors: Kawai Masahiko , Momoi Toru , Fujii Tatsuya , Nakano Shozo , Itagaki Yasuko , Mikawa Haruki 
Published: June 2005

AbstractWe report on a 17‐year‐old Japanese boy with Möbius sequence, peripheral neuropathy, and hypogonadotropic hypogonadism, the fourth such case known to us. The association of peripheral neuropathy and hypogonadotropic hypogonadism in Möbius sequence seems to be more than coincidence. Pulsatile gonadotropin‐releasing hormone administration for 3 months showed the effectiveness of this treatment for this patient.
Low molecular weight urinary peptides in ceroid‐lipofuscinoses: Potential biochemical markers for the juvenile subtype
Authors: LaBadie Gundula U. , Pullarkat Raju K. 
Published: June 2005

AbstractUrine from patients with classical and atypical forms of juvenile ceroid‐lipofuscinosis (CL) was analyzed for the presence of diseasespecific peptides. Two distinct peptide paterns were recognized on lithium dodecyl sulfate polyacrylamide gel electrophoresis in classical juvenile CL Patients. Pattern 1 consisted of a single, intensely staining peptide of apparent Mr 2,000 and up to 4 heterogeneous, weakly staining peptides between 2,500 and 6,300 Mr. This peptide pattern was not seen in over 30 samples from patients with other neurodegenerative disorders, nor in normal control individuals. Reduced amounts of the 2,000 Mr Peptide were seen in 2 of 3 female heterozygotes whose children had the peptide pattern 1. The presence of large amounts of the 2,000 Mr peptide in urine extracts made patient identification unequivocal. Pattern 2 had 2 to 3 intensely staining peptide of 3,800, 5,000 and 7,000 Mr, a variable number of minor bands, and diffuse staining above 7,000 and below 3,800 Mr. Parents had 2 to 3 weakly staining peptides with molecular weights similar to the major bands seen in the patients. No consistent peptide pattern was seen in 8 patients with atypical CL. Late infantile CL patients had no or very small amounts of low Mr urinary peptides.The urinary components stained well with silver, poorly with coomassie Blue, and were digested by a nuclease‐free protease, as expected for protein. They were distinctly different from the peptides isolated from ovine CL tissues. Amino acid composition analysis showed a predominantly normal spectrum of amino acids.Patients could not be consistently distinguished from individuals with other neurodegenerative disorders based on urinary dolichol levels. However, 10 of 11 patients with classical juvenile CL could be diagnosed based on their urinary peptide patterns. Heterogeneity in the number, amount, and Mr of urinary peptides was observed within and between subtypes and sibships. It was concluded that demonstration of specific low Mr peptide pattern 1 and the more heterogeneous peptide pattern 2 in urines may aid in the diagnosis of juvenile CL.
Antecubital pterygium and cleft lip/palate presenting as signs of the nail‐patella syndrome: Report of a Brazilian family
Authors: Richieri‐Costa A. 
Published: June 2005

AbstractWe report on 4 persons in a 3‐generation Brazilian family presenting the nail‐patella syndrome. Cleft lip/palate in one patient and antecubital pterygium in 3 of the reported patients are unusual findings related to this condition.
Pseudoxanthoma elasticum: Similar autosomal recessive subtype in Belgian and Afrikaner families
Authors: Paepe Anne De , Viljoen Denis , Matton Maria , Beighton Peter , Lenaerts Veronique , Vossaert Katrien , Bie Sylvia De , Voet Dirk , De Laey Jean‐Jacques , Kint André 
Published: June 2005

AbstractA multidisciplinary survey of the clinical and genetic characteristics of 26 Belgian and 32 Afrikaner families with biopsy‐proven pseudoxanthoma elasticum (PXE) was undertaken. The major PXE phenotype emerging from this study is very similar in both patient groups and is characterized by severe ophthalmologic manifestations with variable, mild cutaneous and vascular symptoms. In the families with more than one affected relative, segregation analysis is compatible with autosomal recessive inheritance in both groups. It is suggested that the PXE phenotype of these Belgian and Afrikaner patients is distinct from the other recognized PXE subtypes. The phenotypic resemblance in both patient groups raises the question whether a similar genetic mechanism is involved.
Fucosidosis revisited: A review of 77 patients
Authors: Willems Patrick J. , Gatti Rosanna , Darby John K. , Romeo Giovanni , Durand Paolo , Dumon Jan E. , O'Brien John S. 
Published: June 2005

AbstractFucosidosis is a rare, autosomal recessive, lysosomal storage disorder caused by a severe deficiency of alpha‐L‐fucosidase in all tissues. We have conducted a review of fucosidosis, compiling data from published reports and an international questionnaire survey. Seventy‐seven patients affected with fucosidosis of which 19 had not been reported before have been identified. A major aim of the present study was to define the natural history of fucosidosis.The clinical picture of fucosidosis consists of progressive mental (95%) and motor (87%) deterioration, coarse facies (79%), growth retardation (78%), recurrent infections (78%), dysostosis multiplex (58%), angiokeratoma corporis diffusum (52%), visceromegaly (44%), and seizures (38%). Whereas the original fucosidosis patients described by Durand et al. (Pediatr 75:665–674, 1969) were decerebrate and died before age 5 years, most fucosidosis patients have a slower course of degeneration. Mortality before age 5 years was observed in only 7 patients (9%), whereas 36 patients (64%) reached the second decade. We did not find evidence for the existence of clinical heterogeneity with a rapidly progressive type I and a slowly progressive type II fucosidosis as suggested in the literature. Instead, there seems to exist a wide continuous clinical spectrum.At the biochemical level no heterogeneity in residual fucosidase enzyme activity or crossreacting immunoreactive fucosidase protein was observed. At the DNA level at least 4 different mutations must be responsible for fucosidosis. These genotypic differences however do not explain the observed phenotypic differences.
New X‐linked mental retardation disorder with Dandy‐Walker malformation, basal ganglia disease, and seizures
Authors: Pettigrew Anjana L. , Jackson Laird G. , Ledbetter David H. 
Published: June 2005

AbstractWe report on a 4 generation family of individuals with an X‐linked form of mental retardation involving 9 affected males and 5 obligate carrier females. Key manifestations include severe mental retardation, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, presence of a long, narrow face with coarse features, cystic enlargement of the fourth ventricle with cerebellar hypoplasia (Dandy‐Walker malformation), and iron accumulation in the basal ganglia with neuroaxonal dystrophy similar to Hallervorden‐Spatz disease. Of the 5 known heterozygotes, 3 are dull intellectually, and one of the 3 developed a “presenile dementia.” At autopsy she had iron deposition and neuroaxonal dystrophy in the basal ganglia and atrophy of the cerebral cortex. Although the clinical findings among relatives are variable, we conclude that this is a distinct, previously unrecognized X‐linked mental retardation syndrome.
Fragile X screening program in New York State
Authors: Nolin Sarah L. , Snider Donald A. , Jenkins Edmund C. , Brown W. Ted , Krawczun Michael , Stetka Daniel , Houck George , Dobkin Carl S. , Strong Gloria , Smith‐Dobransky Gail , Victor Arnold , Hughes Kevin , Kimpton Donna , Little Anne , Nagaraja U. , Kenefick Barbara , Sullivan Connie 
Published: June 2005

AbstractMost fragile X [fra(X)] males in New York State have not been identified. Hence, a large number of female relatives are unaware of their risks for having an affected child. A program was established in New York State in 1987 to screen for the fra(X) syndrome in mentally retarded males with living relatives. The goal of the program is to identify affected males and inform their families about the diagnosis. In this way relatives would be able to assess their risks for having a fra(X) male.In order to identify the males a screening form was developed to assess 10 features which included physical characteristics, behavior, and family history. Males who exhibited at least 5 of these manifestations were selected for cytogenetic analysis. Any male who had macroorchidism or a family history of mental retardation was also included. A total of 995 males have been screened of which 352 (35%) were selected for cytogenetic analyses. Seventeen (10.5%) of the 161 completed studies were positive for fra(X). A large number of possible female carriers were identified in the families of the propositi.This program identifies fra(X) males in a population of the mentally retarded for whom there had been no previous diagnosis. By using a two‐step procedure, it is possible to screen a large population of the mentally retarded for fra(X) without testing each male cytogenetically.
Clinical screening score for the fragile X (Martin‐Bell) syndrome
Authors: Laing Sue , Partington Michael , Robinson Hazel , Turner Gillian 
Published: June 2005

AbstractA clinical score based on the manifestations of the fragile(X) syndrome has been formulated and applied to all individuals included in a fragile(X) case finding program in New South Wales. The total score can vary from 0 to 10. Individuals are scored 0, 1, or 2 in each of 5 categories considered indicative of the fragile(X) phenotype: family history of intellectual handicap, face length, ear configuration, personality, and body habitus.In a study of 1,206 individuals where the clinical scores were prospective (i.e., they had been given before the cytogenetic results were known) the percentage of those with the fragile(X) increased from 0.6% of those with scores of 4 or less to 14.6% with scores 5–7 and to 67% of those with scores 8–10.We have found the score simple to use in the circumstances where screening takes place (sheltered workshops and schools) and have reduced the number of individuals tested cytogenetically by 45%.