bluuebunny/crossref_metadata_2025_split huggingface dataset:
Mortality rate of amyloidosis in Japan: Secular trends and geographical variations
Authors: Imaizumi Yoko 
Published: June 2005

AbstractThe death rate in Japan from amyloidosis was analyzed using Japanese Vital Statistics for 1969–1985. The amyloidosis death rate has increased gradually year by year for both sexes. The changing patterns in mortality might be explained by a constantly improving ascertainment of amyloidosis. The overall amyloidosis death rate per 100,000 of the population was 0.06 during the period from 1969 to 1978. The geographical variations in the amyloidosis death rate were observed with the highest death rate in Kumamoto and Nagano prefectures (0.29 per 100,000 population) for both sexes during the period from 1979 to 1985. The amyloidosis death rates (per 100,000 population) in 2 large foci of familial amyloidosis polyneuropathy were 9.4 in Ogawa Village, Nagano Prefecture and 3.5 in Arao City, Kumamoto Prefecture during the period from 1979 to 1985. The mean age at death from amyloidosis gradually increased year by year for both sexes, although the age was 11–23 years shorter for males and 20–25 years shorter for females than that of the general population.
Campomelic syndrome: Manifestations in a 20 week fetus and case history of a 5 year old child
Authors: Gillerot Yves , Vanheck Claude‐Annick , Foulon Martine , Podevain Alain , Koulischer Lucien 
Published: June 2005

AbstractWe report on 2 unusual cases of the campomelic syndrome, the first being a fetus in whom the diagnosis was suspected in the 18th week and confirmed sonographically at 20 weeks. The second case concerns a 5 year old 46, XY girl with an exceptional longevity and a relatively favorable evolution.
Down syndrome at birth not detected by first‐trimester chorionic villus sampling
Authors: Bartels Iris , Hansmann Ingo , Holland Ute , Zoll Barbara , Rauskolb Rüdiger 
Published: June 2005

AbstractA case of a false‐negative first‐trimester diagnosis following chorionic villus sampling is reported that ended with the birth of a child with Down syndrome. Chromosome analysis of 30 metaphases from 24 h‐cultured chorionic villi obtained in week 12 of gestation showed a normal chromosome constitution. However, the newborn showed manifestations of Down syndrome, and 99 of 100 metaphases analysed from cultured lymphocytes showed 47,XY, + 21. The remaining metaphase was normal (46,XY).
Fragile X frequency in a mentally retarded population in Brazil
Authors: Mingroni‐Netto Regina C. , Rosenberg Carla , Vianna‐Morgante Angela M. , de Cássia M. Pavanello Rita 
Published: June 2005

AbstractSeventy‐five male and 50 female students from 2 special schools for mildly, moderately retarded, or borderline individuals were screened clinically and cytogenetically in order to estimate the contribution of fragile X [fra(X)] syndrome to the cause of mental retardation in Brazil. We found 6 males (8%) from 4 families and 2 unrelated females (4%) with fra(X) chromosomes. One male and one female were isolated cases. The estimated frequency of Martin‐Bell [fra(X)] syndrome among mentally impaired individuals in Brazil was similar to that previously reported in other countries.
Aberrant bronchi and cardiovascular anomalies
Authors: Evans Jane A. 
Published: June 2005

AbstractIn an investigation of malformation associations in consecutive perinatal autopsies, 4 infants were identified as having a displaced or supernumerary bronchus. Each had a different type of bronchial abnormality and 3 had congenital heart defects and other malformations.Review of the literature found 38 other cases of aberrant bronchi with additional defects, especially cardiovascular or costovertebral anomalies. Structural cardiac defects were more common in patients with supernumerary tracheal bronchi (67%) than in those with displaced tracheal bronchi (27%) or bronchoesophageal connections (23%). There was also a strong negative association (P=0.01) of cardiovascular and costovertebral defects unless multiple anomalies were present.The combinations of anomalies seen appear to reflect relatively specific developmental field defects affected both by the spatial relationships of organs near the developing foregut and by temporal sequence. Recognition of these patterns has clinical and embryological importance. Aberrant bronchi should be considered when children with cardiac defects or multiple anomalies such as the VACTERL association have unexplained respiratory symptoms and surgeons planning to treat such bronchial abnormalities should be aware of the high frequency of abnormal vessels in these cases.
New manifestations of Neu‐Laxova syndrome
Authors: Naveed  , Manjunath C. S. , Sreenivas Vijaya 
Published: June 2005

AbstractWe report on a newborn boy with Neu‐Laxova syndrome and spina bifida, bilateral cryptorchidism, and shallow orbital cavities. Asso‐ciation of these manifestations in Neu‐Laxova syndrome is the first to be reported in the literature. This is the first report of Neu‐Laxova syndrome from India.
Somatic development in cleidocranial dysplasia
Authors: Jensen Birgit Leth 
Published: June 2005

AbstractAs part of a more comprehensive investigation of general and craniofacial development in cleidocranial dysplasia (CCD), the present study describes general somatic development and analyzes longitudinal growth of 17 patients (seven males, ten females, aged 5–46 years) with CCD. Eleven were followed longitudinally. Data included family history, anthropometric measurements, and radiographs of the right hand and forearm. Height and radius length were significantly decreased, being most pronounced in females. The longitudinal growth data showed growth retardation and slightly retarded skeletal maturity throughout childhood. Metacarpophalangeal pattern profile analysis demonstrated great variation in bone lengths, presumably resulting from extra epiphyses in the 2nd and 5th metacarpals and from multiple cone‐shaped epiphyses. Findings of the present study support the view that CCD is a generalized skeletal dysplasia.
Ectro‐amelia syndrome associated with an interstitial deletion of 7q
Authors: Morey Martha A. , Higgins Rodney R. 
Published: June 2005

AbstractWe describe a premature male infant with an interstitial deletion of 7q [46, XY, del(7) (pter→ q21.3::q31.3→qter]. Manifestations include absence of lower limbs, unilateral ectrodactyly, facial anomalies, gingival hyperplasia, feeding problems, and atrial septal defect. Chromosome 7 deletions of the q21.3→q31.3 region are reviewed with emphasis on limb anomalies.
Prenatal diagnosis of X‐linked hypohidrotic ectodermal dysplasia by linkage analysis
Authors: Zonana Jonathan , Schinzel Albert , Upadhyaya Meena , Thomas Nicholas S. T. , Anton‐Lamprecht Ingrun , Harper Peter S. 
Published: June 2005

AbstractPrenatal diagnosis of X‐linked hypohidrotic ectodermal dysplasia was previously performed by the direct histological analysis of fetal skin obtained by late second trimester fetoscopy. The recent gene mapping of the locus for the disorder to the region of Xq11‐21.1 now permits the indirect prenatal diagnosis of the disorder by the method of linkage analysis, based on closely linked marker loci, during the first trimester of pregnancy. We report the prenatal diagnosis of a male fetus with a high probability of the disorder by a linkage analysis utilizing restriction fragment length polymorphisms at the DXS159, PGK1, and DXS72 loci, from a DNA sample obtained by a chorionic villus biopsy at 9 weeks gestation. After further counseling, the pregnancy was terminated but the diagnosis could not be confirmed by histological analysis, even though analysis of skin samples by light and electron microscopy showed lack of hair germs, primary dermal ridges, and sweat gland primordia, due to the early developmental stage of the fetus. The use of DNA‐based linkage analysis now offers the opportunity for an earlier diagnosis of X‐linked hypohidrotic ectodermal dysplasia by a method other than fetal skin sampling. However, families must also fully understand the present limitations of the method prior to undertaking the procedure.
Rett phenotype with X/autosome translocation: Possible mapping to the short arm of chromosome X
Authors: Journal Hubert , Melki Judith , Turleau Catherine , Munnich Arnold , de Grouchy Jean 
Published: June 2005

AbstractRett syndrome (RS) was diagnosed in a girl with a t(X;22)(p11.22;p11). This translocation was also present in her unaffected mother and her sister affected by a neurological disorder compatible with a “forme fruste” of RS. Different etiological mechanisms are considered: gene disruption, X inactivation disturbance, metabolic interference. Whatever this may be, the localization of a RS related gene to the short arm of chromosome X is likely.
Chromosome abnormalities in older women by maternal age: Evaluation of regression‐derived rates in chorionic villus biopsy specimens
Authors: Hook Ernest B. 
Published: June 2005

AbstractMaternal age‐specific rates of chromosome abnormalities in women undergoing chorionic villus sampling (CVS) were evaluated. These were rates derived from regression equations of the form rate = 1n(b [age] + c) where age varied from 35 to 48 years; and b and c are parameters. For Down syndrome (47, + 21), b = 0.29 and c = −15.53; for other nonmosaic abnormalities, b = 0.25 and c = −14.11; and, for all abnormalities, b = 0.27 and c = −14.22. The predicted rates per 1,000 varied, respectively, from 4.2, 4.6, and 8.8 at age 35 years to 180.0, 120.0, and 300.0 at age 48 years. The predicted numbers of abnormalities were compared with those observed in an overlapping data set reported in the literature. For 47, + 21, the ratio of observed (O) to expected (E) numbers was 54/56.4 = 0.96, suggesting that these rates are at least not grossly erroneous. For non‐47, + 21 chromosome abnormalities, the ratio of O to E was 66/51.1 = 1.29. The possibility of geographic variation in rates of non‐47, + 21 chromosome abnormalities cannot be dismissed. Finally, if 1) the regression derived rates are correct, 2) there is no difference in selective loss of chromosome abnormalities between younger and older mothers, and 3) the ratio of rates at ages 35 and 40 years to those in the women of all ages are the same for all abnormalities at CVS as for 47, + 21 in live births, then the proportion of all women with viable conceptuses at time of CVS who have an embryo or fetus with cytogenetic abnormality is 3.8–4.4 per 1,000 conceptuses.
Prospective study of amniocentesis performed between weeks 9 and 16 of gestation: Its feasibility, risks, complications and use in early genetic prenatal diagnosis
Authors: Elejalde B. Rafael , de Elejalde Maria M. , Acuña Juan M. , Thelen Diana , Trujillo Carlos , Karrmann Michael 
Published: June 2005

AbstractThis paper demonstrates that the outcome of amniocenteses performed between the 9th and the 14th weeks is similar to that of amniocenteses performed between the 15th and 20th weeks. We have performed and prospectively followed 615 amniocenteses between the 9th and 16th weeks of gestation. The outcome, risks, and complications are similar to those of amniocenteses at the usual time (after 15 weeks) and to the other groups of early amniocentesis (before 15 weeks). Early amniocentesis differs from amniocentesis at the usual time in that it carries higher rates of fetal losses and of amniotic fluid leakage, more confined cytogenetic abnormalities, and an increased number of patients who have the procedure postponed. Two cultures (0.32%) failed to produce results, 595 (96.7%) samples were obtained at the first tapping, 20 (3.3%) at the second attempt. α‐Fetoprotein levels reach their maximum at 13 weeks. Amniocenteses between 15 and 16 weeks (293, or 47%) constitute the control group, those between 9 and 14 weeks (322) the experimental group. Early amniocentesis appears to be a safe early genetic prenatal diagnosis technique, an alternative to chorionic villi sampling.
Preimplantation sexing and diagnosis of hypoxanthine phosphoribosyl transferase deficiency in mice by biochemical microassay
Authors: Monk Marilyn , Handyside Alan , Muggleton‐Harris Audrey , Whittingham David 
Published: June 2005

AbstractHypoxanthine phosphoribosyl transferase (HPRT)‐deficient male embryos derived from heterozygous (carrier) female mice were diagnosed by biochemical microassay of X‐chromosome‐coded HPRT activity in a single cell taken from the 8‐cell embryo or in 5–10 cells sampled from the blastocyst. In the latter procedure, carrier female blastocysts could also be distinguished from affected males, and normal males and females, as having intermediate HPRT activity in the sampled trophectoderm cells.During the assay procedures, the operated preimplantation embryos were cultured. They were then transferred, in batches as diagnosed, to recipient females. The resulting fetuses were sexed by gonad morphology and assayed for HPRT activity. All those identified as HPRT‐negative embryos by biopsy at the 8‐cell or blastocyst stages were indeed HPRT‐negative males. The heterozygous females were also correctly identified by the trophectoderm biopsy procedure.The sex of an embryo can also be diagnosed by HPRT activity dosage in a single blastomere taken from 8‐cell embryos from a normal mating and cultured for 12 hours before assay. Both X chromosomes are active in female morulae and the blastomeres sampled from female preimplantation embryos have twice the X‐coded HPRT activity compared to those from the male embryos. The accuracy of this procedure for sexing was again verified by transfer of the putative male and putative female embryos into recipient females.The diagnoses of HPRT deficiency or sex in the biopsied samples from preimplantation embryos were sufficiently rapid so that freezing of the embryos before transfer was not necessary.
Mirror polydactyly: Pathogenesis based on a morphogen gradient theory
Authors: Viljoen Denis L. , Kidson Susan H. 
Published: June 2005

AbstractWe report on an infant with 7 toes of the left foot in a mirror configuration in association with ipsilateral duplication of the calcaneus and fibula, tibial aplasia, femoral hypoplasia, and a teratomatous sacrococcygeal tumour. The possible pathogenetic mechanisms leading to this limb abnormality are discussed with special emphasis on a field morphogen gradient hypothesis.
A ring X chromosome, 46,Y,r(X)(p22.33q28), as a cause of extreme short stature in a male
Authors: Ogata Tsutomu , Matsuo Nobutake , Shimizu Nobuyoshi 
Published: June 2005

AbstractWe describe a 15 10/12‐year‐old boy (Tanner stage 4, peak growth velocity 7 cm/year) with a ring X chromosome who presented with extreme short stature (mean ‐ 5.3 SD) as the sole recognizable abnormality. His chromosome constitution was determined to be 46,Y, r(X) (p22.33q28) in 174 of 182 peripheral blood cells and in 35 skin fibroblasts. Of the remaining eight peripheral blood cells, five had a dicentric double‐size ring and three had a smaller ring. Other laboratory studies for short stature were noncontributory. We suspect that the ring's specific behavior in mitosis or its effect on expression of the statural determinant on the X chromosome short arm may be responsible for short stature in this patient.
Congenital hypoplastic (Diamond‐Blackfan) anemia in seven members of one kindred
Authors: Viskochil David H. , Carey John C. , Glader Bertil E. , Rothstein Gerald , Christensen Robert D. 
Published: June 2005

AbstractCongenital hypoplastic (Diamond‐Blackfan) anemia is a rare macrocytic anemia, generally presenting during infancy or childhood. The condition usually occurs sporadically or in a pattern consistent with autosomal recessive inheritance, although autosomal dominant transmission has been proposed in some kindreds. We report the largest known kindred of congenital hypoplastic anemia, with at least 7 affected individuals over 3 generations, and propose that studies of this kindred may be useful for identifying the mechanism by which their genetic abnormality results in congenital hypoplastic anemia. Erythropoietic investigations on relatives show no inhibitors of erythropoiesis in serum, T‐lymphocytes, or macrophages. Their erythroid progenitor cells (CFU‐E and BFU‐E) were generally quantitatively normal, and were capable of rapid proliferation, as judged by cellcycle shortening. However, their erythroid progenitors displayed a relative insensitivity to recombinant erythropoietin, and produced relatively few normoblasts per erythroid progenitor cell. We propose that these and subsequent studies may be helpful in selecting candidate genes responsible for the molecular defect in this kindred.
Distal deletion of the short arm of chromosome 6
Authors: Zurcher Vickie L. , Golden Wendy L. , Zinn Arthur B. 
Published: June 2005

AbstractWe report on a patient with deficiency of distal 6p and compare the clinical and cytogenetic findings in this child with those of three previously reported patients who had similar deletions. Distal del(6p) appears to be associated with a relatively non‐specific phenotype, with the possible exception of unusual congenital eye findings. This apparent association of congenital eye defects with distal del(6p) was supported by comparison with patients having other deletions of chromosome 6, particularly those with ring chromosome 6.
Proteus syndrome: Course of a severe case
Authors: Malamitsi‐Puchner Ariadne , Dimitriadis Dimitris , Bartsocas Christos , Wiedemann H.‐R. 
Published: June 2005

AbstractWe report on the course of a 4½‐year‐old boy with Proteus syndrome who was first described 3 years ago. Details are given on the phenotypic changes, the complications of corrective surgery on tissue overgrowth, and the development of a mesothelioma of the tunica vaginalis of the testis.
Chromosome 7 abnormalities in parents of children with holoprosencephaly and hydronephrosis
Authors: Lurie I. W. , Ilyina H. G. , Podleschuk L. V. , Gorelik L. B. , Zaletajev D. V. 
Published: June 2005

AbstractAt least nine cases of holoprosencephaly (HPE) found in patients with confirmed loss of 7q34→7qter or 7q36→7qter have been reported in the literature. In the present report, balanced rearrangements involving chromosome 7q [inv(7)(p22.1q34) and t(4;7)(q31;q36)] were shown in two mothers examined after the birth of their non‐karyotyped infants with HPE and hydronephrosis. In both cases, del(7q) was the most probable imbalance. The available data confirm the association between HPE and del(7q). Predominance of cyclopia and cebocephaly, the severest forms of HPE, suggests that del(7q) may be an important factor in arresting prosencephalon development at the earliest stages.
Cytogenetic and molecular study of the Angelman syndrome
Authors: Imaizumi Kiyoshi , Takada Fumio , Kuroki Yoshikazu , Naritomi Kenji , Hamabe Junichi , Niikawa Norio 
Published: June 2005

AbstractSix patients, including two sibs, with Angelman syndrome (AS; three females and three males, aged 11 to 18 years) were studied cytogenetically. Molecular analysis was also performed. Using high‐resolution banding technique, we detected a microdeletion in the proximal region of chromosome 15q in four cases. The deleted segment was heterogenous between these patients, and the common deleted region appeared to be 15q11.2. Four patients with deleted 15q were all sporadic cases, whereas in the sib cases we could not detect a visible deletion in the long arm of chromosome 15. However, there was no clinical difference between sporadic cases and sib cases. Densitometric analysis of autoradiographic bands of Southern hybridization using two DNA segments, pML34 and pTD3‐21, as probes demonstrated that two patients had only one copy for each of the probes. In the remaining four patients, including the sibs, two copies of each sequence were retained. The probes used here detect a molecular deletion in most Prader‐Willi syndrome patients. Thus the segment causing AS is localized adjacent to the critical segment of Prader‐Willi syndrome. There seemed to be heterogeneity for the molecular deletion within AS individuals.
Prader‐Willi syndrome: Current understanding of cause and diagnosis
Authors: Butler Merlin G. 
Published: June 2005

AbstractPrader‐Willi syndrome (PWS) is characterized by hypotonia, obesity, hypogonadism, short stature, small hands and feet, mental deficiency, a characteristic face, and an interstitial deletion of the proximal long arm of chromosome 15 in about one‐half of the patients. The incidence is estimated to be about 1 in 25,000, and PWS is the most common syndromal cause of human obesity. DNA abnormalities, usually deletions or duplications of chromosome 15, have been identified in individuals with PWS with or without recognizable chromosome 15 deletions. Paternal origin of the chromosome 15 deletion by cytogenetic and DNA studies has been found in nearly all PWS individuals studied. No cytogenetic evidence for chromosome breakage has been identified, although an environmental cause (e.g., paternal hydrocarbon‐exposed occupations) of the chromosome 15 abnormality has been proposed. PWS patients with the chromosome 15 deletion are more prone to hypopigmentation compared with PWS individuals with normal chromosomes, but no other clinical differences are consistently identified between those with and without the chromosome deletion. Anthropometric, dermatoglyphic, and other clinical findings indicate homogeneity of PWS patients with the chromosome deletion and heterogeneity of the nondeletion patients. A review of our current understanding of the major clinical, cytogenetic, and DNA findings is presented, and clinical manifestations and cytogenetic abnormalities are summarized from the literature.
Comparison of the 15q deletions in Prader‐Willi and Angelman syndromes: Specific regions, extent of deletions, parental origin, and clinical consequences
Authors: Magenis R. E. , Toth‐Fejel S. , Allen L. J. , Black M. , Brown M. G. , Budden S. , Cohen R. , Friedman J. M. , Kalousek D. , Zonana J. , Lacy D. , Lafranchi S. , Lahr M. , Macfarlane J. , Williams C. P. S. 
Published: June 2005

AbstractIt has recently been shown that apparently similar deletions of chromosome 15q occur commonly in the Prader‐Willi and Angelman syndromes. The distinctness of the syndromes suggests that the deletions are not identical. To address this possibility, the specific bands involved and the sizes of the deletions were compared in seven patients with Prader‐Willi syndrome and 10 patients with Angelman syndrome using high‐resolution G‐, Q‐, and fluorescent R‐banding techniques. The parental origin of the nine cases of Angelman syndrome for which parents were available for study was determined. The same proximal band was deleted (q11.2) in both syndromes. In general, the deletion in patients with Angelman syndrome was larger, though variable, and included bands q12 and part of q13. All of the studied deletions in patients with Angelman syndrome were of maternal origin. This contrasts with the predominant paternal origin of the deletion in patients with Prader‐Willi syndrome. Two possible reasons for these observations are postulated: 1) the deleted regions are different at the cytologic and/or molecular level because of different exchange points in meiosis in males and females or to different mechanisms of breakage in males and females, resulting in differing breakpoints; 2) the deleted regions are essentially the same, but differential expression of the genes in the homologous chromosome 15 has occurred (imprinting).