bluuebunny/crossref_metadata_2025_split huggingface dataset:
Amniotic fluid analysis in prenatal diagnosis of neural tube defects: a comparison between six biochemical tests supplementary to the measurement of amniotic fluid alpha‐fetoprotein
Authors: Toftager‐Larsen K. , Wandrup J. , Nørgaard‐Pedersen B. 
Published: July 2010

Concanavalin A (con A) and lens culinaris agglutinin (LCA) microheterogeneity pattern of AFP (crossed affinity immunoelectrophoresis), alpha‐2‐macroglobulin and synaptic membrane protein D‐2 (rocket immunoelectrophoresis) and qualitative (polyacrylamide gel electrophoresis) and quantitative (enzyme kinetic reaction rate) acetylcholinesterase were analysed in 87 consequtive samples from normal pregnancies and 37 abnormal samples (fetal neural tube defect or abdominal wall defect).Very few false positive results were obtained in normal pregnancies with any of the tests. In all cases of neural tube defects the correct result was obtained with qualitative acetylcholinesterase analysis, whereas only 2/3 of the abdominal wall defects were correctly predicted. Testing with con A or LCA was less optimal in neural tube defects, whereas all abdominal wall defects could be predicted correctly. Acetylcholinesterase in the quantitative test and protein D‐2 did not decrease the rate of false results. Determination of the alpha‐2‐macroglobulin concentration performed well in the present study, but is not recommended because of the very high susceptibility to contamination of amniotic fluid with fetal or maternal blood.
The inheritance of constitutive and facultative skin colour
Authors: Banerjee Sarla 
Published: July 2010

Observations on skin reflectance were made on 309 endogamous Indian families, for constitutive (medial upper arm) and facultative skin colour (forehead) to investigate which of the two colours is under a rigid control of genetic action. An assessment of data by coefficient of correlation “r” show that facultative colour is inherited more strictly than the constitutive colour.Received 4 July, accepted 3 October 1983
Interstitial deletion of band q12 of chromosome 5
Authors: Dudin Gertrud , Alexander Denis , Talj Fayrouz , Deeb Mary , Musallam Salim , Kaloustian Vazken M. Der 
Published: July 2010

A six‐months‐old girl is presented with psychomotor retardation and multiple congenital malformations. The karyotype done on peripheral blood lymphocytes and skin fibroblasts was found to be 46,XX del(5)(411q13). The parents are consanguineous. Their karyotypes were normal.The genes for Arylsulphatase B and Hexosaminidase B are not located in band 5q12.
Genetic counseling for autosomal dominant diseases with a negative family history
Authors: Friedman J. M. 
Published: July 2010

The first appearance of an autosomal dominant disease in a family is often attributed to new mutation, and the parents may be given a very low risk of recurrence for future offspring. This counseling is not appropriate if penetrance of the disease is incomplete and the reproductive fitness of affected individuals is close to normal. The risk of recurrence (PR) for an autosomal dominant disease in the sibling of an affected child, neither of whose parents is affected, may be estimated as:PR= y(1‐y)/2(2‐y‐f)where f is fitness of the carrier genotype regardless of phenotype, y is penetrance, and mutation‐selection equilibrium is assumed to exist. Recurrence risks have been calculated with this formula for various values of f and y. In cases in which penetrance is moderate and fitness is moderate or high, the risk of recurrence in siblings of the proband is often greater than 10%. When fitness is very high (f±0.9), the risk to siblings may be greater than 25%. These observations have important implications for genetic counseling and may also affect mutation rate calculations, demonstration of paternal age effects, and determination of inheritance patterns in genetically heterogeneous conditions.
Semiautomated chromosome analysis: A clinical test
Authors: Philip J. , Lundsteen C. 
Published: July 2010

An interactive system for semiautomated chromosome analysis, consisting of a high‐speed image processor with light‐pen, TV monitor and key‐board interfaced to a microscope with motorized scanning stage and video‐camera and to a hard‐copy printer, has been clinically tested for twenty consecutive working days.Metaphase search takes place over night. Identified metaphases are ranked automatically according to their suitability for analysis. Less than every second metaphase found cannot be either counted or analysed.164 samples were analysed. Only one was not completed. Two numerical and two structural abnormalities were identified and clinical consequences taken.Average time per completed analysis (10 counts, four karyotypes) were 37.5 min (28–84). Average time varied between technicians. In another test including 120 metaphases and 40 karyotypes average time for counting the chromosomes of a metaphase was 37 sec. (28–48), and average time for producing one karyotype, including a hard‐copy was 4 min 30 sec (3 min 43 sec‐5 min 54 sec). Number of manual interactions was 8 (2–17) and 36 (25–61), respectively.Although improvements are possible, the system is able to at least double the output of four cytogenetic technicians.
A complex rearrangement, including a deleted 8q, in a case of Langer‐Giedion syndrome
Authors: Schwartz S. , Beisel J. H. , Panny S. R. , Cohen M. M. 
Published: July 2010

A 10‐month‐old infant with failure to thrive, delayed development, mild dysmorphia, cardiac anomalies, and cryptorchidism was referred for cytogenetic evaluation. Routine GTG‐banded analysis revealed a modal number of 46 chromosomes, which contained an obvious complex rearrangement involving chromosomes 1, 8, and 14. Parental chromosomes were normal. Following high resolution techniques, this de novo rearrangement demonstrated an intraband deletion and was designated as [46,XY,t(1;8;14)(1pter→1p13.1::14q12→14pter;1qter→ Ip13.1::8q24.13‐8qter; 14qter→14ql2::8p23.3→8q24.11:)].Although deletions have been implicated as possibly responsible for abnormal phenotypes in patients with de novo“balanced rearrangements”, in most cases, they could not be demonstrated. The present case is only the second instance documenting a subtle intraband deletion in association with a complex translocation. Fourteen of the reported 18 patients with an 8q deletion (including this infant) have Langer‐Giedion syndrome, suggesting an etiologic relationship. However, the same deletion is not present in all cases.
An unusual variant chromosome 9 with an extra C‐negative, G‐dark segment in the short arm
Authors: Spedicato F. S. , Comite A. Di , Tohidast‐Akrad M. 
Published: July 2010

An unusual variant chromosome 9 is described in a mother and a daughter: an extra G‐, C‐negative and G‐11 negative chromosomal segment is present in the short arm in the absence of apparent phenotypic effects. This extra material is also Ag‐As negative and exhibits a fluorescence similar in intensity to that of band 9q21 when stained by QFQ and DAPI/AMD, and to that of band 9p13 in RBA‐banded preparations; it is slightly less fluorescent when R‐banded by chromomycin A3.The possibility of an association with an increased risk of spontaneous abortion is presented.
Prenatal diagnosis of cystic fibrosis by trehalase enzyme assay in amniotic fluid
Authors: Szabó M. , Teichmann F. , Szeifert G. T. , Tóth M. , Tóth Z. , Török O. , Papp Z. 
Published: July 2010

Amniocentesis and amniotic fluid trehalase enzyme assay were offered to 14 pregnant women at a 1 in 4 risk for a child with cystic fibrosis. Twelve of these pregnancies were screened at the 18th week of gestation; ten proceeded to term, seven following the finding of a normal trehalase activity and three despite the low enzyme level in amniotic fluid. In all ten cases prenatal diagnosis proved to be correct. In two cases with low enzyme activity parents opted for termination at the 19th week, and with PAS‐Alcian Blue staining some slight histochemical lesions characteristic of cystic fibrosis were seen in the exocrine glands, including the pancreas and intestinal mucosa, of both fetuses. The total protein content in the meconium of these fetuses was significantly higher than in the controls.Results suggest that trehalase assay in the amniotic fluid is a potential prenatal test for cystic fibrosis and it appears that in fetuses with cystic fibrosis some histochemical and biochemical abnormalities can be observed as early as the 19th week of gestation. The role of ultrasound examination as an additional procedure for the prenatal diagnosis of cystic fibrosis is also discussed.
The Groll‐Hirschowitz syndrome
Authors: Potasman I. , Stermer E. , Levy N. , Dar H. , Bassan H. 
Published: July 2010

Two sisters showed a similar disorder with cachexia, sensory deafness, and upper gastrointestinal abnormalities. The family pedigree suggests autosomal recessive inheritance of the disorder. Demyelinization demonstrated by a peripheral nerve biopsy may explain the basis for the manifestations.Only one family with this unique syndrome has been reported in the literature.The term “The Groll‐Hirschowitz Syndrome” has been suggested, named after the two physicians who first described this condition.
The FG syndrome: 7 new cases
Authors: Thompson E. M. , Baraitser M. , Lindenbaum R. H. , Zaid Z. H. , Kroll J. S. 
Published: July 2010

The X‐linked FG syndrome is characterised by mental retardation, congenital hypotonia and constipation (which may both be severe), structural anal anomalies and relative macrocephaly in some, and an unusual and characteristic facial appearance. We describe 7 males from 4 families. One had anal stenosis. Two of the mothers and one sister show probable carrier manifestations.The features of the FG syndrome are individually non‐specific. We emphasize that the characteristic combination of features is needed to avoid overdiagnosis.
Familial syndrome with some features of the Langer‐Giedion syndrome, and paracentric inversion of chromosome 8, inv 8 (q11.23<q21.1)
Authors: Shabta F. , Sandowski U. , Nissimov R. , Klar D. , Halbrecht I. 
Published: July 2010

A family is reported with an autosomal dominant inherited syndrome presenting some of the typical features of the tricho‐rhino‐phalangeal syndrome type II (TRP II) or Langer‐Giedion syndrome. The critical region for the expression of the syndrome seems to be at band 8q24.1.In the affected members of the family reported here, anomaly of chromosome 8 was noted, involving however the proximal part of the 8 long arm, which was interpreted as a paracentric inversion. Whether the anomaly is causally or only casually related to the syndrome is a matter of discussion.
Indication against genetic localisation of the human transcobalamin II gene (TC2) on chromosome 16
Authors: Gallmann Martin , Fráter‐Schröder Marijke , Scheffrahn Wolfgang , Ott Jürg , Schmid Balthasar , Butler Esther , Biedermann Vreni , Kierat Lucja 
Published: July 2010

The genetic locus of human transcobalamin II (TC2) is not yet known. The mouse transcobalamin II gene has been assigned to mouse chromosome 11, linked to hemoglobin A. This fact suggested a similar linkage of transcobalamin II in man, assigning it thus to human chromosome 16.Our linkage investigation in a family material of more than 600 individuals demonstrated absence of linkage between transcobalamin II and phosphoglycolate phosphatase, which is very closely linked to hemoglobin A on chromosome 16. Additionally we confirmed absence of linkage with the chromosome 16 gene marker system haptoglobin. These two gene marker systems are located far from each other, and the total length of chromosome 16 is estimated only about 100 cM. Together with recent results of investigations in somatic mouse‐man cell hybrids, we conclude that TC2 is not located on chromosome 16.Additionally we found absence of linkage between transcobalamin II and 6‐phosphoglucona‐te dehydrogenase, rhesus blood group (both on chromosome 1), GC (chromosome 4), Esterase D (chromosome 13) and AG; absence of close linkage with “debrisoquin polymorphism”.
Dermatoglyphic peculiarities in families with X‐linked mental retardation and fragile site Xq27: a collaborative study
Authors: Rodewald A. , Froster‐Iskenius U. , Kab E. , Langenbeck U. , Schinzel A. , Schmidt A. , Schwinger E. , Steinbach P. , Veenema H. , Wegner R.‐D. , Wirtz A. , Zankl H. , Zankl M. 
Published: July 2010

The dermatoglyphic patterns of fingertips, palms and soles of 75 male patients with X‐linked mental retardation and fra‐Xq27 and of 28 obligate female heterozygotes were analyzed and compared with the data from 200 S and 200 control individuals. The results show that there is a strong association between the fra‐X‐syndrome and dermatoglyphic peculiarities observed in male patients and also in female heterozygotes. The characteristic dermatoglyphic features of the fra‐X‐syndrome are: increased frequencies of radial loops, whorls and arches on the fingertips, a pronounced transversal course of palmar ridges, lower a‐b RC, absence of c‐triradii on the palms, abnormal palmar and plantar creases, dysplasia of the papillary ridges and low frequencies of true patterns on the soles. Some of these patterns were found in the female carriers of fra‐Xq27 also. The combination of palmar and plantar patterns, expressed by a “log. score‐Index”, provides a high degree of discrimination between the male patients with fra‐X‐syndrome and the control group. A preliminary log. score‐Index was developed also for the female heterozygotes.A “phantom picture” of the dermatoglyphic stigmata is constructed. We suggest that dermatoglyphic examination of the members of families suspected for fra‐Xq27‐syndrome can be useful for predicting this state and for diagnosing male hemizygotes and carrier females.
An asymmetric type of chondrodysplasia in an adult male
Authors: Fryns J. P. , Berghe H. VAN DEN 
Published: July 2010

In this paper we report a 22‐year‐old male with an asymmetric skeletal dysplasia, affecting almost the whole right part of the body and closely resembling pseudoachondroplastic dysplasia.This “segmental” type of chondrodysplasia is apparently another rare example of a somatic mutation of an autosomal dominant gene in man.
Oto‐Palato‐Digital syndrome in four generations of a larqe family
Authors: Pazzaglia Uco E. , Beluffi Giampiero 
Published: July 2010

A new large family, affected by 0‐P‐D syndrome is reported. Nine members in four consecutive generations have been studied.Computerized tomography study of spine and skull showed abnormalities to be confined to mesodermal derivates, while nervous structures were normal.Transmission pattern may be X‐linked with intermediate expression in the female or autosoma1 dominant with sex limitation of expression.
Usefulness of a registry of congenital malformations for genetic counseling and prenatal diagnosis
Authors: Stoll C. , Roth M‐P. , Dott B. , Bigel P. 
Published: July 2010

During three years, 39,924 infants born consecutively in the area covered by our registry of congenital malformations were surveyed; 775 had major congenital malformations.Recurrence risks for the major malformation was estimated and classified as high (> 10%, 5.3% of the cases), low (1 to 10%, 85.3% of the cases) or occasional (<1%, 9.4% of the malformed).Feasibility of prenatal diagnosis was considered. On the basis of the recurrence risk of 1 % or higher and the feasibility of prenatal diagnosis, such a procedure should be considered in future pregnancies in 64.1% of the mothers.Genetic counseling has to be given to couples at risk of having a malformed child. For this purpose, as is shown in our study, the best way is the possibility of using a registry of congenital malformations.
A new chromosome instability disorder
Authors: Maraschio Paola , Peretti Diletta , Lambiase Simonetta , Curto Franco Lo , Caufin Daniele , Gargantini Luigi , Minoli Lorenzo , Zuffardi Orsetta 
Published: July 2010

Chromosome analysis in a 31‐year‐old woman referred for primary amenorrhea, revealed a very high incidence of chromosome aberrations. She had microcephaly and immunodeficiency. Her healthy parents were consanguineous (1/32) and a younger sister, also with primary amenorrhea, died when 20 years old with a malignant lymphoma.Chromosome studies were performed on lymphocytes and fibroblasts and in both tissues a high proportion of metaphases with multiple chromosome aberrations was found. Clonal and sporadic rearrangements, consisting of balanced and unbalanced translocations and dicentric chromosomes were more numerous than chromatid and chromosome breaks. In the lymphocytes the same unbalanced translocation t(8q;21q) was present in about 59% of the metaphases. Rearrangements involving chromosomes 7 and 14, similar to those described in patients with ataxia‐telangiectesia were found, but with a lower frequency. Sister Chromatid Exchanges were not increased. Chromosome and chromatid abnormalities were enhanced after exposure of cells to mitomycin C but not after exposure to the radiomimetic drug bleomycin.Clinical and cytogenetic characteristics of the patient are compared with those of syndromes (Ataxia‐Telangiectesia and Werner's syndrome) or isolated cases (Weemaes et al. 1981, Sperling 1983, Spinner et al. 1985) whose features are similar to those of our patient. This case might represent a new chromosome instability syndrome due to a recessive mutation.
Exencephaly in human fetuses
Authors: Papp Z. , Csécsei K. , Tóth Z. , Polgár K. , Szeifert G. T. 
Published: July 2010

In some anencephalic fetuses exposed neural tissue mass of varied size can be demonstrated. This is known as exencephaly. The authors diagnosed by ultrasound 10 typical exencephalic cases prenatally between 14 and 21 weeks of gestation. Nine singular pregnancies were terminated and in the twin pregnancy a selective feticide of the exencephalic co‐twin was carried out. The pregnancy continued to term and a healthy newborn infant and a fetus papyraceus were born. The mummified co‐twin was anencephalic and showed only the remnants of the exposed brain.Authors suggest that, as in experiments with animals, the exencephaly in humans, by the degeneration of the exposed neural tissue converts to anencephaly and in this process the macrophages in fetal circulation and in the amniotic fluid may play a significant role. The large number of these actively phagocytic macrophages can be demonstrated in the amniotic fluid samples from exencephalic fetuses.
In vitro hyperdiploidy in dermal fibroblasts: evidence for genetic predisposition in aerodigestive tract cancer
Authors: Danes B. Shannon , Boyle Paula D. , Traganos Frank. , Ringborg Ulrik , Melamed Myron R. 
Published: July 2010

A numerical alteration in chromosome complement in human dermal fibroblast cultures, hyperdiploidy with a normal occurrence of tetraploidy (IVH) has been reported (Danes 1984) to be associated with some heritable single tumors including squamous carcinoma of the nasopharynx (Danes 1986). The incidence of IVH was compared in cultures derived from 65 patients with squamous carcinoma in different regions of the aerodigestive tract (ADT) and 32 clinically normal subjects without a family cancer history by 2 different assays, metaphase assay (MA) and flow cytometry (FCM).By MA, none of the 32 normals showed IVH. Of the 65 ADT patients studied, 35 had IVH and 30 did not. By FCM, there were significant differences in the FCM DNA index (p values<0.001) of “IVH” (all normals and 30 ADT patients) and IVH+ ADT patients. The per cent of cells with a DI of 2 and > I could be used to distinguish all IVH˜ from the IVH + subjects and were thus considered to be the parameters of choice in assaying IVH by FCM. None of the subjects studied showed increased in vitro tetraploidy (IVT) which has been associated with some heritable colon cancer syndromes.Irrespective of family cancer history, approximately half (35/65) of the ADT patients had IVH which has been shown to be associated with the in vivo expression of certain heritable tumors. The average age of squamous carcinoma diagnosis was earlier (mean 50 yrs) for the IVH* group than for the IVH˜ADT group (mean 72 yrs).
Technical and biological aspects of pseudomosaicism and mosaicism
Authors: Moller Päl , Ormerod Eli 
Published: July 2010

In 471 amniotic fluid cell cultures, single abnormal cells were found to be randomly distributed. The expected number of pseudomosaicisms for aneuploidy due to randomly distributed cells was 3.9, and the observed number was 4. Expected number of mosaicism for aneuploidy was 0.6, and none was observed.The findings indicated that pseudomosaicisms as well as mosaicisms may be diagnosed from randomly distributed single abnormal cells. The probability of erroneously confirming mosaicism increased with the number of cells analysed in the second culture.
Assignment of the locus order DXS28‐ DXS67‐DMD as a spin‐off from diagnostic DNA marker analysis in a family with Duchenne muscular dystrophy
Authors: Nørby Søren , Schwartz Marianne 
Published: July 2010

During diagnostic segregation analysis for seven DNA markers, linked to and flanking the locus for Duchenne muscular dystrophy (DMD), a family was identified in which a boy with a recombinant X chromosome had inherited his maternal grandmother's alleles at the loci DXS43 (D2/Pvu II) and DXS28 (C7/Eco RV), and his maternal grandfather's alleles at DXS67 (B24/Msp I) and DXS84 (754/Pst 1).Combined with earlier data this finding strongly suggests the locus order DXS28‐DXS67‐DMD. Another recombination event, identified in the same family, supports the previously established order DMD‐DXS84‐OTC.The diagnostic importance of flanking markers, and the likelihood of false diagnostic conclusions due to possible double crossovers, with and without demonstrable neighbouring single crossover events, are discussed.
Trisomy 18 clustering in Kuwait
Authors: Naguib Kamal K. , Al‐Awadi Sadika A. , Marafie M. J. , Al‐Huji S. Y. 
Published: July 2010

Thirteen cases of trisomy 18 (T18) were ascertained clinically and cytogenetically during the period 1984–1986.Eight cases were delivered during 1986 in the Maternity Hospital out of 17318 live births, making an incidence of 4.61/10000, which is significantly higher than the international incidence as well as the incidence in previous years. The femaie‐to‐male sex ratio was 1.8/1, the median maternal age 32.5, and the median paternal age 40.There was no history of polyhydramnios. Five cases were delivered by cesarean section and four cases died in the neonatal period. All cases proved to be full trisomy 18 with no mosaicism detected; in one case parental inversion 9 was detected.
Automated cytogenetic analysis: accomplishments, present status and practical future possibilities
Authors: Lundsteen Claes , Philip John 
Published: July 2010

During the past 25 years, much research has been put into the development of systems for automated cytogenetic analysis. Currently more than 10 chromosome analysis systems are commercially available at prices from USD 50000–200000.The Magiscan chromosome system (Joyce‐Loebl Ltd.) was the first system to be integrated into a clinical cytogenetic laboratory at Rigshospitalet in Copenhagen. From 1983–1987, 6752 cases were analysed with two systems which can do both metaphase finding and karyotyping, and 7036 karyotypes were produced with one “karyotyping‐only” system. The development of automated cytogenetics systems is continuing in order to improve their performance further.
Retinitis pigmentosa, AD type I: exclusion of linkage to D3S47 (C17) in a large South African family of British origin
Authors: Gresnbarg Jacquie , Babaya Michelle , Ramasar Raj , Beighton Pater 
Published: July 2010

Linkage analysis has been performed on a large South African family of British origin in which 39 persons in 6 generations had early onset Type I autosomal dominant retinitis pigmentosa (ADRP). Tight linkage was excluded between the disease and the D3S47 locus on chromosome 3.This finding is further evidence for genetic heterogeneity in ADRP.