bluuebunny/crossref_metadata_2025_split huggingface dataset:
Prenatal diagnosis of fragile X syndrome by placental (chorionic villi) biopsy culture
Authors: McKinley Mark J. , Kearney Lyndal U. , Nicolaides Kypros H. , Gosden Christine M. , Webb Tessa P. , Fryns Jean P. 
Published: June 2005

AbstractSecond trimester ultrasound‐guided fetal blood sampling and placental biopsy were performed on 10 pregnancies at risk for fra(X)‐linked mental retardation (Martin‐Bell syndrome). Three cases were diagnosed as affected after cytogenetic analysis of fetal blood and placental cultures. The fra(X)(q27.3) and common fragile sites were shown to be expressed at a lower level in placenta than in fetal blood. Induction methods included methotrexate, 5‐fluoro‐2‐deoxyuridine, and excess thymidine. Excess thymidine may give the best expression of fra(X)(q27.3). Enhancement of fra(X)(q27.3) expression was not shown with caffeine or 5‐methoxybenzamide.
Prenatal exclusion of Norrie disease with flanking DNA markers
Authors: Gal Andreas , Uhlhaas Siegfried , Glaser Dieter , Grimm Tiemo , Neri Giovanni , Reynolds James F. 
Published: June 2005

AbstractThree polymorphic DNA markers linked to the locus of Norrie disease were used for indirect genotype analysis in a ten‐wk‐old fetus at risk for the disease. When haplotypes of the family members and the estimated recombination frequency between Norrie gene and each of the DNA marker loci DXS7, DXS84, and DXS146 were taken into account, the risk that the fetus had inherited the mutation was about 1%.
Osteogenesis imperfecta type I with unusual dental abnormalities
Authors: Levin L. Stefan , Young Richard J. , Pyeritz Reed E. , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractA large kindred with dominantly inherited osteogenesis imperfecta was evaluated. Affected individuals had bone fractures, blue sclerae, and hearing loss. In addition, all had dental abnormalities distinct from those previously described in other families with this syndrome. Deciduous teeth were normal in color or blue‐grey. On radiographs of an early developing deciduous dentition, pulps were larger than normal. In patients with mixed dentitions, pulp chambers of deciduous teeth were partially obliterated. Increased constriction at the junctions of the crowns and roots was found in some deciduous teeth. One patient had large pulp stones in the pulp chambers of all maxillary deciduous molars. Permanent teeth were normal in color but had oval pulp chambers with apical extensions into the coronal portions of the roots, large coronal pulp stones, narrow root canals, and thin roots. Individuals in this family who did not have osteogenesis imperfecta had normal teeth. In addition, a well circumscribed radiolucency without a sclerotic periphery, involving the apices of all permanent mandibular incisors, was found in the anterior mandible in one patient. These findings support the hypothesis that this family has yet another type I osteogenesis imperfecta “syndrome”.
Genetic aspects of artificial insemination with donor semen: The French CECOS federation guidelines
Authors: Jalbert Pierre , Leonard Claude , Selva Jacqueline , David Georges 
Published: June 2005

AbstractThe genetic problems raised by assisted reproduction using donor gametes (AID) are numerous and often complex. They concern the legitimacy and the appropriate forms of genetic screening for both gamete donors and recipients; the identification of genetic indications justifying the use of this method of reproduction; and ascertainment of the state of health of the conceptus at birth. The experience and guidelines of the French CECOS Federation, which comprises 20 AID treatment centers, are described. The discussion emphasizes the need for an international exchange of view on this subject.
Hypothesis: Familial Mediterranean fever—A genetic disorder of the lipocortin family?
Authors: Shohat M. , Korenberg J. R. , Schwabe A. D. , Rotter J. I. 
Published: June 2005

AbstractFamilial Mediterranean fever is an autosomal recessively inherited disorder of unknown cause characterized by recurrent attacks of inflammation, involving mainly the peritoneum, pleura, synovia, and skin. Based on a phenotype analysis, we propose that its manifestations may be related to a genetic defect in one of the family of lipocortin proteins. Evidence is presented supporting an abnormality in the first step of prostaglandin/leukotriene synthesis.
Chromosome abnormalities in selected newborn infants with malformations in Brazil
Authors: Borovik Cleide L. , Brunoni Décio , Sato Aurea E. , Barletta Horácio , Dualibi‐Casanova Luci , Hironaka Hideaki C. , Brunoni Leila R. , Brock Roger , Carvalho Laura A. , Costa Egle De Campos 
Published: June 2005

AbstractBetween 1982 and 1985, 109 infants were referred for cytogenetic examination out of a population of 73,192 liveborn infants from eight maternity hospitals surveyed by the ECLAMC/MONITOR program. Thirty‐one of the children had a chromosome abnormality different from trisomy 21.Considering the total population surveyed, trisomy 18 was detected in 1:6,099; trisomy 13 was seen in 1:24,397 and unbalanced rearrangements were found in 1:7,319 infants. Those rates were not significantly different from the expected ones, as compared to previous cytogenetic surveys of consecutive births.We concluded that most chromosome abnormalities associated with congenital malformations can be detected at low cost, provided there is a high accuracy of clinical examination and referral criteria, as well as close cooperation between pediatricians and geneticists.
Paracentric inversion of chromosome 19 in three generations
Authors: Phelan Mary C. , Schroer Richard J. , Krug Ernest F. 
Published: June 2005

AbstractWe observed a paracentric inversion of 19p in a 15‐month‐old white boy with developmental delay and mild facial anomalies. The inversion of 19p was also present in his phenotypically normal mother and maternal grandfather.
Decisions following the intrauterine diagnosis of sex chromosome aneuploidy
Authors: Robinson Arthur , Bender Bruce G. , Linden Mary G. 
Published: June 2005

AbstractThis is a report of 327 phone calls to our center concerning the intrauterine diagnosis of sex chromosome abnormalities (SCA). The first author (A.R.) responded to each by counseling either the parents or the referring professional. Sixty‐two percent continued the pregnancy. When the parents were counseled directly, the percentage continuing the pregnancy was significantly higher than when the information was transmitted through the professionals. Our results are different from most reports in these situations, and suggest that well‐informed couples, counseled by geneticists, are more likely to continue these pregnancies. The possible occurrence of SCA should be considered in preamniocentesis counseling.
Comparison of education and occupation of adults with achondroplasia with same‐sex sibs
Authors: Roizen Nancy , Ekwo Edem , Gosselink Carol 
Published: June 2005

AbstractWe compared the education and occupation of 20 adults with achondroplasia with their same‐sex sibs. While the mean number of years of formal education reported by affected males and females was comparable to that of their same‐sex sib, we found differences in the level of occupation between the groups. In general, affected females had a significantly lower occupational level compared to their unaffected sisters. In males and females the number of years of formal education and whether or not individuals had achondroplasia were the 2 most important factors determining occupational level when contrasting affected persons with their unaffected sibs. Education alone accounted for 28 and 42% of the observed variance in occupational level, respectively, for females and males.
DNA polymerase alpha defect in the N syndrome
Authors: Floy Kimberly M. , Hess Russell O. , Meisner Lorraine F. 
Published: June 2005

AbstractThe N syndrome is characterized by mental retardation, malformations, chromosome breakage, and development of T‐cell leukemia (Opitz et al.: Proceedings of the II International Congress IASSMD pp 115–119, 1971; Hess et al.: Clinical Genetics 6:237–246, 1974b, American Journal of Medical Genetics [supplement] 3:383–388, 1987). N syndrome fibroblasts were studied to see if the high chromosome breakage rate associated with this apparently X‐linked syndrome could be related to a deficiency of DNA polymerase alpha, a product of a gene localized to the X chromosome. Bleomycin, which is known to break double‐stranded DNA, produced increased chromosome breakage in normal control, Fanconi anemia, and N syndrome fibroblasts. When aphidicolin was used to inhibit repair mediated by DNA polymerase alpha, both normal control and Fanconi anemia fibroblasts showed significantly more chromosome breakage than was produced by bleomycin alone, but there was no increase in the amount of breakage seen in the N syndrome fibroblasts over that seen with bleomycin alone. This suggests that the N syndrome is due to a mutation affecting the region of the X chromosome on which the gene for DNA polymerase alpha is located, and that the high risk of T‐cell leukemia observed in the hemizygote is due to this DNA repair defect.
Model identifying the reproductive decision after genetic counseling
Authors: Frets Petra G. , Duivenvoorden Hugo J. , Verhage Frans , Ketzer Eva , Niermeijer Martinus F. 
Published: June 2005

AbstractTo assess the identifiability of reproductive planning after genetic counseling, a model was designed to study 8 relevant factors influencing reproductive decisions after genetic counseling. Altogether, 164 couples were interviewed at home 2 to 3 years after genetic counseling. The factors were arranged in a flow chart distinguishing 3 groups: reproductive outcome prior to genetic counseling, desire to have children, and interpretation of information gained from genetic counseling. The model based upon these retrospective data showed that reproductive decisions were identified correctly in 91% of the cases. The model consisted of 8 factors and documented the urgency of the desire to have children and the interpretation of the genetic risk. In addition, linear discriminant analysis of the 8 relevant factors enabled identification of the reproductive decision in 96% of the cases. This model may prove helpful to counselors and counselees by showing what other couples have decided in comparable circumstances and for which reasons.
Autosomal dominant Polycystic Kidney Disease: A linkage evaluation of heterogeneity in Italy
Authors: Mandich P. , Restagno G. , Novelli G. , Bellone E. , Potenza L. , Varetto O. , Dallapiccola B. , Carbonara A. , Ajmar F. 
Published: June 2005

AbstractA survey of 29 families with Adult Polycystic Kidney Disease (ADPKD) was performed to evaluate the genetic heterogeneity of the disease in Italy. The approach was through the linkage between the disease and 2 polymorphic DNA fragments as detected by the probes 3′HVR and 24.1. Linkage between the polymorphic markers and the disease was confirmed, with the following lod scores: between 3′HVR and ADPKD1 = 12.974 at θ = 0.02; between 24.1 and ADPKD = 1.716 at θ = 0.07; between 3′HVR and 24.1 = 2.738 at θ = 0.09. No evidence of significant genetic heterogeneity in the examined Italian regions was detected.
Gene of type II autosomal dominant retinitis pigmentosa maps on the long arm of chromosome 3
Authors: Olsson J. E. , Samanns Ch. , Jimenez J. , Pongratz J. , Chand A. , Watty A. , Seuchter S. A. , Denton M. , Gal A. 
Published: June 2005

AbstractLinkage analysis has been performed on a large Australian family segregating for the autosomal dominant form of retinitis pigmentosa (ADRP). The majority of patients had no subjective symptoms of night blindness until their second decade and good visual acuity until late in life. The disease in this family has been classified as Type II ADRP according to the subdivisions provided by both Massof and Finkelstein and Fishman and colleagues. Linkage (θmax:0.08 at zmax:4.78) is here demonstrated between the disease locus and D3S47 (a marker locus on the long arm of chromosome 3), which showed in an earlier study very close linkage without recombination to the disease locus in an Irish pedigree with a clinically more severe and early onset (Type I) ADRP.
Fibular hypoplasia and complex brachydactyly (Du Pan Syndrome) in an inbred Pakistani kindred
Authors: Ahmad Mahmud , Abbas Hasan , Wahab Abdul , Haque Sayedul 
Published: June 2005

AbstractA Pakistani kindred comprising 7 generations contained 7 men and 2 women with fibular hypoplasia and complex brachydactyly (syn: Du Pan syndrome). Analysis of the pedigree is strongly suggestive of autosomal recessive inheritance. The average inbreeding coefficient (F) for the affected persons was found to be significantly greater than that for unaffected persons in the pedigree and consanguineous loops could account for all affected persons being homozygous for the abnormal allele.
Bilateral complete polysyndactyly (type IV Haas)
Authors: Gillessen‐Kaesbach Gabriele , Majewski F. 
Published: June 2005

AbstractWe describe complete cutaneous syndactyly of all fingers and polydactyly in a 2‐month‐old girl. Based on 3 previous reports, this constitutes a separate entity (McKusick 18620) with probable autosomal dominant inheritance.
Reproductive behavior of thalassemic couples segregating for Cooley anemia
Authors: Gamberini Maria Rita , Canella Rita , Lucci Marco , Vullo Calogero , Barrai Italo 
Published: June 2005

AbstractThe reproductive behavior in 1984 of families segregating for Cooley anemia in Ferrara was compared with that of a control group of families, matched for some biological variables which affect fertility. At the resolution power of the sample, it was found that there is no significant difference in these variables due to segregation for Cooley anemia, and it appears that there is no longer significant reproductive compensation in thalassemic couples, although a tendency to compensate does still exist. The increased life span of children affected by Cooley anemia, due to improvements in treatment in the past decade, is probably the main reason why the compensatory reproductive behaviour of the past has almost disappeared.
Cytogenetic diagnosis of the fragile X syndrome: Efficiency, utilization, and trends
Authors: Shapiro Lawrence R. , Wilmot Patrick L. , Shapiro Deborah A. , Pettersen Isabel M. , Casamassima Anthony C. 
Published: June 2005

AbstractIn order to assess the impact of the increasing awareness of the fra(X) syndrome and a broader approach to fra(X) testing, we analyzed our laboratory experience for 1980‐1988. In 1981–1986, there was an avearage of 80 cases/year (62 male; 18 female). The 103 (74 male; 29 female) cases in 1987 represent a 45% increase over the prior 3 years; this sustained in 1988 with 106 cases.The fra(X) positive yield decreased from a high of 49% in 1980 to an average of 20% (range 15–24%) in 1981–1984, 10% (range 9–11%), in 1985–1987 and 7% in 1988. The positive rate for males and females was nearly identical in both time periods. The positive yield for mentally retaded individuals with a family history of mental retardation dropped from an average of 20% for 1981–1984 and 33% for 1985–87 to 13% for 1988; hopwever, the positive fra(X) rate for mentally retarded individuals decreased from an average of 23% in 1981–1984 to 9% in 1985–1987 and 7% in 1988.The decreasing fra(X) yield and increasing case load are directly attributable to the relaxation of criteria for referral and testing related to the referral of all mentally retarded patients, and to the perceived malpractice liability for not doing a “complete” evaluation. Although the burden for cytogenetic laboratories is considerable, the yield of positive fra(X) cases is still worthwhile, and may be maximized by the use of improved screening criteria.
Duplication 3q(q21 → qter) without limb anomalies
Authors: Ismail Suzan R. , Kousseff Boris G. , Kotb Samia M. , Kholeif Soha F. 
Published: June 2005

AbstractWe report on a 2.5‐month‐old boy with hypertelorism, hypertrichosis, anteverted nostrils, malformed ears, thin lips, downturned corners of the mouth, micrognathia, short neck, cryptorchidism, and bilateral simian creases without limb anomalies. Cytogenetic studies showed a duplication 3q → qter 46,XY,der(6),t(3;6)(q21;p25)pat. The absence of limb anomalies is noteworthy; all 12 previously reported patients with the same duplication had limb anomalies. The uniqueness of this report provokes speculations regarding limb morphogenesis in embryos with chromosome anomalies. The concepts of chronogenetics, heterochrony, and developmental field defects appear relevant to yet another set of patients with chromosome anomalies.
Congenital nystagmus in a (46, XX/45,X) mosaic woman from a family with X‐linked congenital nystagmus
Authors: Gutmann David H. , Brooks Michael L. , Emanuel Beverly S. , McDonald‐McGinn Donna M. , Zackai Elaine H. 
Published: June 2005

AbstractX‐linked congenital nystagmus is a rare disorder in which affected males manifest binocular uniplanar nystagmus with associated head oscillation. In the families previously reported, affected females have been described. We report on a multigeneration family with X‐linked congenital nystagmus with an affected woman. She was a (46,XX/45,X) mosaic. Magnetic resonance images of the brain of affected individuals were normal.
Molecular detection of constitutional deletions in patients with retinoblastoma
Authors: Blanquet Véronique , Créau‐Goldberg Nicole , Grouchy Jean De , Turleau Catherine 
Published: June 2005

AbstractThe recent cloning of the retinoblastoma (RB) gene as well as the identification of intragenic polymorphisms afford the necessary tools for the analysis of rearrangements using molecular hybridization. We searched for constitutional deletions by Southern blotting in 67 in dependent patients with normal karyotype comprising 15 familial and 52 sporadic cases. Among the latter, 33 were bilaterally and 19 unilaterally affected. We detected 6 deletions using cDNA probes covering almost all of the RB gene, as well as a genomic probe of the 5′ part of the gene. With this approach, the incidence of detectable deletions was around 10%. No hot spots for deletion breakpoints were found. Asymptomatic carriers were detected in 2 families. The effectiveness of genetic counselling was largely improved by this approach.
Creativity in medical genetics and dysmorphology
Authors: Hecht Frederick , Hecht Barbara K. 
Published: June 2005

AbstractOne gauge of creativity in medical genetics and dysmorphology is the eponym. Conditions named for people reflect their powers of observation and analysis. We examined the fields and ages of 210 eponymous physicians and scientists whose biographies were published by Peter and Greta Beighton [1986] in The Man Behind the Syndrome. Twenty fields were represented with the dominant fields being, in order, pediatrics, neurology, general and internal medicine, pathology, radiology, and orthopedics. The ages of the eponymous workers averaged 43 years at the time of their relevant publications. Fully a fifth of the contributions were made by persons aged 30 years or less, or 60 years or more, suggesting that eponymous fame may come to workers of talent independent of age.
Molecular and clinical overlap of Angelman and Prader‐Willi syndrome phenotypes
Authors: Kirkilionis A. J. , Chudley A. E. , Gregory C. A. , Hamerton J. L. 
Published: June 2005

AbstractThe Prader‐Willi (PWS) and Angelman syndromes (AS) share the same apparent cytogenetic and molecular lesions of 15q11‐13 and yet exhibit distinct clinical phenotypes. The etiology of PWS or AS appears to depend on the parental origin of the aberrant chromosome 15. Substantial clinical overlap has not been reported between deletion‐positive PWS and AS patients. In the present study, we report the clinical, cytogenetic, and molecular findings in three AS patients. The first patient is a mentally retarded woman with a visible deletion of 15q11‐13 with typical craniofacial, behavioral, and neurologic changes of AS. This patient is hyperphagic, and she is moderately obese for her height. Her hands and feet are small. These manifestations are more characteristic of PWS and not of AS. The molecular studies showed deletions of maternal origin for five distal PWCR loci. The most proximal locus, D15S18, was not deleted. These findings are identical to those found in our third AS patient who does not have any PWS features. To the best of our knowledge, this is the first report of concurrence of hyperphagia with consequent obesity and the AS phenotype in a patient with a del 15(q11‐13) of maternal origin. These clinical findings suggest that overlap in the symptoms of PWS and AS can occur. Our second AS patient presents with atypical molecular findings in that he cannot be classed into any of the three proposed sub‐groups of AS patients and may be representative of a fourth sub‐group of AS patients.
Fuhrmann syndrome of right‐angle bowed femora, absence of fibulae and digital anomalies: Two further cases
Authors: Lipson Anthony H. , Kozlowski Kazimierz , Barylak Antoni , Marsden William 
Published: June 2005

AbstractWe describe 2 patients with bilateral right‐angle bowing of femora, absence of fibulae, and reduced, flattened and nail‐less toes and symmetrical fingernail deficiency in a consanguineous family of ethnic South Vietnamese Baptists and a non‐consanguineous Polish family. These cases are similar to those reported by Fuhrmann et al. (in “Skeletal Dysplasias,” New York: Alan R. Liss, Inc., pp 519–524), indicating possible autosomal recessive inheritance of this rare non‐lethal limb malformation syndrome.
Chromosome rearrangements among couples with pregnancy losses and other adverse reproductive outcomes
Authors: Gadow Enrique C. , Lippold Santiago , Otano Lucas , Serafin Eva , Scarpati Raul , Matayoshi Tetsuji 
Published: June 2005

AbstractDuring the years 1975–1987, 1,364 cytogenetic studies were performed in 682 couples with history of adverse pregnancy outcome. Thirty‐six balanced translocations were detected, 24 (3.5%) in women and 12 (1.7%) in men. Before 1982, all 234 couples studied had 2 or more spontaneous abortions with unknown pedigrees, with an incidence of 6.8% of balanced translocations. During 1982–1987, complete pedigree analysis was performed on a subset of 448 couples, who were then classified into 3 groups. Group I; 321 couples with 2 or more spontaneous abortions, but no other adverse outcome; group II; 37 couples with at least one or more spontaneous abortions plus a malformed child or stillbirth; and group III; 90 couples with one or more spontaneous abortions plus a sib having at least a malformed child or repetitive spontaneous abortions. The incidence of balanced translocations in these 3 groups was 2.8%, 5.4%, and 10.0%, respectively. When group III was compared with group I, the frequency of translocations was significantly different (P < 0.02).Robertsonian translocations were predominantly detected in women, raising the possibility that prezygotic failure producing primary sterility may occur in men with such translocations.
New syndrome: Mother and son with hypertelorism, downslanting palpebral fissures, malar hypoplasia, and apparently low‐set ears associated with joint and scrotal anomalies
Authors: Seaver Laurie H. , Cassidy Suzanne B. 
Published: June 2005

AbstractWe report on a mother and son with a similar syndrome of hypertelorism and telecanthus, epicanthal folds, downslanting palpebral fissures, ptosis, broad nasal bridge, malar hypoplasia, thin upper lip, smooth philtrum, and apparently low‐set prominent ears. The son also has a hypoplastic shawl scrotum, cryptorchidism, and genu valgum. His language development was delayed at 18 months, but subsequently improved and was normal at age 3. The mother has the additional findings of marked cubitus valgus, hyperextensible joints, dull normal intelligence and a bleeding diathesis. This pattern of multiple congenital anomalies may represent a new syndrome.