bluuebunny/crossref_metadata_2025 huggingface dataset:
Spontaneous and X‐ray induced chromosomal aberrations in selected connective tissue diseases
Authors: Burkhardt Wesley C. , Jackson John F. , Songcharoen Suthin , Meydrech Edward F.
Published: July 2010

Chromosome studies were performed on peripheral blood lymphocytes of 28 patients with connective tissue disease (6 with progressive systemic sclerosis, 6 with systemic lupus erythematosus, 6 with anti‐nuclear antibody positive rheumatoid arthritis, 6 with anti‐nuclear antibody negative rheumatoid arthritis, and 4 with mixed connective tissue disease) and on 17 controls to determine the frequency of spontaneous as well as X‐ray (75 rads) induced aberrations. The mean spontaneous chromosomal aberration frequency for the 28 patients (9.1 %) was significantly (P = 0.038) greater than that of controls (6.4 %). When patients were categorized into specific clinically designated connective tissue disease subdivisions for comparison with the controls, only X‐irradiated cells from the progressive systemic sclerosis group displayed significantly elevated levels of total chromosomal aberrations over those of the control group. The X‐irradiated lymphocytes from these patients had an average of 23.6 % aberrations per patient, while those of the control group showed an average of 14.9 % per patient (P < 0.05).
Penetrance estimates and recurrence risks for fibromuscular dysplasia
Authors: Gladstien K. , Rushton A. R. , Kidd K. K.
Published: July 2010

The mode of transmission, penetrance, birth order and sex bias effects are analyzed for fibromuscular dysplasia data. These analyses were done to facilitate genetic counseling for this disease.
Dermatoglyphic patterns in the Sjögren‐Larsson syndrome
Authors: Gustavson K. H. , Jagell S.
Published: July 2010

The finger‐ and palm dermal‐ridge patterns of all Swedish cases with the Sjogren‐Larsson syndrome (SLS) were studied. The dermatoglyphic patterns of the SLS material showed variations from the normal material. This indicates an early prenatal pathological influencc on the formation of dermatoglyphics in SLS.
Familial X‐linked mental retardation with a marker X chromosome and its relationship to macro‐orchidism
Authors: Howard‐Peebles Patricia N. , Stoddard Gayle R.
Published: July 2010

It has been suggested that the form of X‐linked mental retardation with macro‐orchidism and the form associated with a marker X chromosome (fragile site at Xq27 or 28) are the Same entity. Although our data support this hypothesis, one family from the literature does not. Data are presented suggesting that actual measurements are required for accurate evaluation of testicular size.
Pericentric inversion, inv(9) (p22 q32), in the father of a child with a duplication‐deletion of chromosome 9 and gene dosage effect for adenylate kinase‐1
Authors: Mattei J. F. , Mattei M. G. , Ardissone J. P. , Taramasco H. , Giraud F.
Published: July 2010

A pericentric inversion of chromosome 9 was detected in the father of a child with partial trisomy involving the long arms and partial monosomy of the short arms of chromosome 9. A gene dosage effect was demonstrated for adenylate kinase 1 in erythrocytes.
The spectrum of frontonasal dysplasia in an inbred pedigree
Authors: Fuenmayor H. Moreno
Published: July 2010

An inbred pedigree is described in which three members were affected with FND (Frontonasal Dysplasia). Two of these individuals werz products of a consanguineous mating with an inbreeding coefficient of F = 0.0391. The third affected individual (propositus), was born to a marriage in which the coefficient of inbreeding was 0.0742. The mother of the propositus, whose inbreeding coefficient was 0.0625, had borderline hypertelorism and a broad nose. Several other members of the pedigree who had hypertelorism were products of consanguineous matings. The presence of consanguinity in all individuals affected with a variety of manifestations of FND suggests a genetic mechanism for this malformation.
Bloom's syndrome in a Japanese girl
Authors: Kawashima Hiroko , Sato Tamotu , Taniguchi Noboru , Yagl Takashi , Ishizaki Kanzi , Takere Hiraku
Published: July 2010

Clinical, cytogenetic, and immunological data of a 5‐year‐old Japanese girl with Bloom's syndrome are described. Growth deficiency, photosensitivity, and a very mild facial telangiectatic erythema were present. Cytological studies revealed chromosomal aberrations and the characteristic high frequency in sister chromatid exchanges. Immunological studies showed that the serum levels of IgM and IgA, but not IgG, were abnormally low as compared to the agematched control values and that the generation of cytoplasmic immunoglobulin‐producing cells in the peripheral blood lymphocytes, which was evaluated in the in vitro pokeweed mitogen‐stimulated cultures, was markedly reduced.
Sjögren‐Larsson syndrome in Sweden. A clinical, genetic and epidemiological study
Authors: Jagell Sten , ‐Henrik Karl , Gustavson  , Holmgren Gösta
Published: July 2010

Sjögren‐Larsson syndrome (SLS), originally described in Sweden, has been studied in a countrywide survey. A total of 58 SLS patients in 41 families were traced, 35 of them still alive. Thirty patients, 23 alive and seven deceased, have not been reported earlier. The mean incidences per 100,000 in the years 1901–1977 were 0.6 in the whole of Sweden, 10.2 in the county of Västerbotten and 2.7 per 100,000 in the county of Norrbotten. In the above‐mentioned areas, the prevalence figures for SLS on 31st December 1978 were estimated to be 0.4, 8.3 and 2.6 per 100,000 persons, the frequencies of SLS gene carriers 0.5, 2.0 and 1.0%, and the gene frequencies 0.002, 0.010 and 0.005, respectively. Of the 58 identified Swedish SLS patients, 45 were born in a restricted area in the northeast of Sweden.
Increased amnionic fluid alpha‐fetoprotein due to a holoacardium amorphous twin
Authors: Harger James H. , Doshi Nalini , Marchese Sandra , Hinkle Richard S. , Garver Kenneth L.
Published: July 2010

Amnionic fluid alpha‐fetoprotein measurement was employed as a screening test for neural tube defects in a pregnancy only at risk due to advanced maternal age. The alpha‐fetoprotein concentration was elevated more than 10 standard deviations above the mean and was found to be caused by a holoacardium amorphous twin. A normal female fetus was also present. Various causes of elevated alpha‐fetoprotein concentration in amnionic fluid are discussed.
HLA Phenotypes and joint affection in psoriasis, acute anterior uveitis and chronic prostatitis
Authors: Møller Pål , Berg Kåre , Vinje Odd
Published: July 2010

In a prospective study, 50 patients hospitalized for psoriasis, 34 patients hospitalized for acute anterior uveitis (AAU) and 29 patients hospitalized for chronic prostatitis, were examined. The expected increased frequencies of HLA B13 and HLA B17 in psoriasis and of HLA B27 in AAU over healthy people were found. No unsuspected association between HLA antigens was observed. Psoriatic patients with peripheral joint affection frequently had affected sacro‐iliac joints and were HLA B27 negative. Joint affection was frequently seen in HLA B27 positive patients with psoriasis or AAU. In the patients with AAU, 12 out of 22 patients positive for HLA B27 exhibited radiographical sacro‐iliitis. This high prevalence of sacroiliitis suggests an interaction between genes predisposing for AAU and sacroiliitis. Asymptomatic sacro‐iliitis was found in both HLA B27 positive and negative patients. The low frequency of clinical symptoms in psoriatic sacro‐iliitis could not be explained by the absence of HLA B27.
Autosomal dominant inheritance with incomplete penetrance of Caffey disease (infantile cortical hyperostosis)
Authors: Fried K. , Manor A. , Pajewski M. , Starinsky R. , Vure E.
Published: July 2010

Autosomal dominant inheritance with incomplete penetrance of Caffey disease (infantile cortical hyperostosis) is demonstrated in a study of a large kindred with nine affected individuals. This mode of transmission of the disease explains all previously reported families.
Venous thromboembolic disease in Klinefelter's syndrome
Authors: Campbell W. A. , Price W. H.
Published: July 2010

In a series of 412 patients with Klinefelter's syndrome observed over periods ranging from 1 to 20 years, the frequency of hypostatic ulceration, deep vein thrombosis and pulmonary embolism was found to be raised. The prevalence of past or present hypostatic ulceration was 6 %, which is 20–50 times higher than in the general population. The incidence of deep vein thrombosis in subjects aged between 30 and 70 years was 22.8 cases per 10,000 patient‐years at risk. In community studies the incidence of this condition is around 4 new cases per 10,000 men per year. The frequency of pulmonary embolism was 16 cases per 10,000 patient‐years at risk, compared with an expected figure of 0.9 to 3 cases per 10,000 men per year.
A twin study of aryl hydrocarbon hydroxylase (AHH) inducibility in cultured lymphocytes
Authors: Børresen Anne‐Lise , Berg Kåre , Magnus Per
Published: July 2010

Aryl hydrocarbon hydroxylase (AHH) inducibility was studied in cultured lymphocytes from 28 monozygotic (MZ) and 19 dizygotic (DZ) twin pairs. The results indicate that the induced level of AHH activity as well as inducibility (expressed as the ratio between levels in induced and non‐induced cells) are inherited. The best (h2) estimate of heritability is 0.7. There was no suggestion that non‐induced AHH activity level is an inherited trait. Inducibility of AHH was not normally distributed and the distribution observed in this limited series might even be trimodal. The results of the study appear to confirm previous reports that AHH inducibility is an inherited trait, and do not exclude the possibility that the major part of the variation is controlled by one locus.
45, X Constitution in a H‐Y antigen positive boy with partial monosomy 5p
Authors: Seidel H. , Miller K. , Spoljars M. , Stengel‐Rutkowski S.
Published: July 2010

This is the second reported case of a boy with partial monosomy 5p and 45, X constitution. He has the typical clinical features of the Cri‐du‐chat syndrome and no Turner stigmata. The normal male development of external genitalia in the patient is related to the presence of the H‐Y antigen.
ECG Conduction disturbance in the first‐degree relatives of children with ventricular septal defect
Authors: Mészáros Márta , Czeizel Andrew
Published: July 2010

A detailed cardiological examination was made in the first‐degree relatives of 94 index patients with ventricular septal defect and in 94 matched control cases. Incomplete or suspect right bundle branch blocks were found in 18.3 % and in 4.1 %, respectively, of first‐degree relatives of index and control groups. The difference is highly significant. These intraventricular conduction disturbances may be subthreshold signs of septal defects.
Platelet monoamine oxidase activity in Down's syndrome
Authors: Fowler Christopher J. , Wiberg ÅSa , Gustavson Karl‐Henrik , Winblad Bengt
Published: July 2010

The activity of platelet monoamine oxidase in Down's syndrome cases was significantly lower than that of controls. This difference was found for both males and females, and with tyramine, tryptamine and β‐phenethylamine as substrate. The Km values of the monoamine oxidase towards tryptamine as substrate from controls and Down's syndrome patients were similar.
Cytogenetic and endocrine findings in a female with 45, X, t(Y;18) (p11;p11)
Authors: Cassorla F. G. , Emanuel B s. , Parks J. S. , Wu C. H. , Wheeler J. E. , Tenore A.
Published: July 2010

A 23‐year‐old phenotypic female with congenital heart disease, mental retardation and mild virilization was referred for evaluation of short stature and delayed sexual development. Endocrine studies revealed a markedly elevated serum testosterone, which was within the adult male range. At laparotomy, a small uterus, normal fallopian tubes and bilateral gonadal tumors, consisting of a left gonadoblastoma and right dysgerminoma were found. Trypsin G banding of peripheral blood revealed a 45, XO, 18p+ karyotype. Q banding demonstrated intense fluorescence of the distal portion of the extra material on chromosome 18, consistent with fluorescence of Y chromosomal heterochromatin. A combination of banding techniques enabled us to determine a 45, X, t(Y;18) (p11;p11) karyotype in peripheral blood. Cultures of gonadal tissue revealed 45, X, t(Y;18)/46, XY mosaicism.
The hydrolethalus syndrome: delineation of a “new”, lethal malformation syndrome based on 28 patients
Authors: Salonen Riitta , Herva Riitta , Norio Reijo
Published: July 2010

We describe a lethal malformation syndrome in 28 newborn infants from 18 families. The main manifestations were hydrocephalus (often with an unusual structure of the brain and the occipital bone), very small mandible, Polydactyly, congenital heart defect, abnormalities of the respiratory organs, and (different from the Meckel syndrome) normal kidneys. Polyhydramnios and stillbirth or neonatal death were the rule. Autosomal recessive inheritance is evident. This syndrome is another in the group of rare recessive disorders which are found in Finland. Because of the 25 % recurrence risk and possibilities for prenatal diagnosis, this syndrome should be recognized by paediatricians and, because of the frequent stillbirths, also by obstetricians and pathologists. The name hydrolethalus syndrome (hydramnios, hydrocephalus, lethality) may be of help in this.
Two unusual G‐band variants of the short arm of chromosome 9
Authors: Sutherland Grant R. , Eyre Helen
Published: July 2010

Two familial G‐band variants of the short arm of chromosome 9 are described. One is associated with C‐band material, but the other is not and appears to involve euchromatin.
Association of the X chromosomal region q11→22 and Klinefelter syndrome
Authors: Patil Shivanand R. , Bartley James A. , Hanson James W.
Published: July 2010

A male patient with typical Klinefelter syndrome features was found to have a 47, XXq‐Y chromosome complement. The X chromosome with the deletion was late‐replicating. We suggest that the region q11→22 of the extra X chromosome is important for expression of the Klinefelter phenotype.
The effect of haloperidol feeding on dopamine receptor number in ten mouse strains
Authors: Belmaker Robert H. , Bannet Jacob , Brecher‐Fride Ester , Yanai Joseph , Ebstein Richard P.
Published: July 2010

Mean DA receptor number in rats rises markedly after chronic haloperidol treatment, and this rise is accompanied by a significantly increased variance. The rise in DA receptor number has been proposed as a molecular model of human tardive dyskinesia. Since human tardive dyskinesia may involve pharmacogenetic susceptibility, ten inbred mouse strains were treated for 3 weeks with haloperidol and caudate DA receptor number was determined 4 days after cessation of feeding. Some strains showed much larger rises in DA receptor number than others, supporting the notion that genetic factors may be involved in the susceptibility to large DA receptor responses to chronic haloperidol.
Genetic aspects of schizophrenia
Authors: Böök Jan A.
Published: July 2010

Sufficient evidence supports the conclusion that schizophrenia syndromes are pathogenetically and very likely genetically heterogeneous. The major part of published data on families and twins suggests a significant genetic variation component. The interpretation of the genetic transmission is probably confounded by the heterogeneity of such data.
Biochemical genetics of neurotransmitter enzymes and receptors: Relationships to schizophrenia and other major psychiatric disorders
Authors: Ciaranello Roland D. , Boehme Richard E.
Published: July 2010

Genetic control of catecholamine biosynthetic enzymes and dopamine receptors is described. The steady‐state levels of each of the catecholamine biosynthetic enzymes in the adrenal is regulated by a single genetic locus. The entire biosynthetic pathway gives the appearance of concerted inheritance under the control of a single locus. Mesolimbic and nigrostriatal dopamine receptors are also genetically regulated. Preliminary evidence suggests that agonist binding sites differ from antagonist sites in both brain regions, and that the genetic controls, which are expressed on receptor site number, are independent in the two brain regions.
Erythrocyte catechol‐O‐methyltransferase activity in related families with schizophrenia
Authors: Floderus Ylva , Böök Jan A. , Wetterberg Lennart
Published: July 2010

Erythrocyte catechol‐O‐methyltransferase (COMT) activity has been analyzed in 72 individuals from 17 related families with 18 schizophrenic members. No association with any of the three COMT genotypes could be found in this pedigree.
Erythrocyte catechol‐O‐methyltransferase activity in psychotic twins
Authors: Floderus Ylva , Eberhard Göran , Witterberg Lennart
Published: July 2010

Erythrocyte catechol‐O‐methyltransferase (COMT) activity was analyzed in 20 twin pairs, 6 monozygotic and 14 dizygotic, where one or both twins showed psychotic or prepsychotic symptoms. Fifteen of these pairs, 4 monozygotic and 11 dizygotic, were diagnosed as discordant for serious mental disturbance. The different psychotic states within twins did not seem to be associated with any difference in COMT activity.
Erythrocyte catechol‐O‐methyltransferase activity in a Swedish population
Authors: Floderus Ylva , Ross Svante B. , Wetterberg Lennart
Published: July 2010

Erythrocyte catechol‐O‐methyltransferase (COMT) activity has been analyzed in 185 individuals. The activities showed a trimodal frequency distribution. This suggests an autosomal codominant inheritance of the human erythrocyte COMT activity. The mean male COMT activity was 18.9 ± 7.0 (S.D.) nmol/ml RBC/h. The mean female activity was 16.1 ± 6.3 nmol/ml RBC/h and the frequency distribution pattern for women was shifted towards lower values.
The Inheritance of human erythrocyte catechol‐O‐methyltransferase activity
Authors: Floderus Ylva , Wetterberg Lennart
Published: July 2010

Erythrocyte catechol‐O‐methyltransferase (COMT) activity was analyzed in 107 individuals from 23 families. The observed activities were consistent with an autosomal codominant inheritance of the gene coding for erythrocyte COMT activity.
Kinetic aspects of monoamine oxidase activity in twins with psychoses
Authors: Koide Yayoi , Eberhard Göran , Sääf Jan , Ross Svante B. , Wahlund Lars‐Olof , Wetterberg Lennart
Published: July 2010

Monoamine oxidase activity was assayed in platelets from 22 (8 monozygotic and 14 dizygotic) twin pairs. At least one twin of each pair had a serious psychiatric disorder (proband). Phenethylamine was used as substrate and the assay was performed at two different oxygen concentrations (0.06 and 0.12 mM). Apparent Km and Vmax values were estimated from double reciprocal plots. The correlation between proband and control twins was high for both apparent Km (r=0.83) and Vmax (r = 0.69) when the enzyme was assayed at the higher concentration of oxygen. The monozygotic twins pairs showed very high correlations (Km r=0.93; Vmax, r = 0.86)as compared to dizygotic twins (Km r = 0.81, Vmax r = 0.50) and apparently healthy subjects (Km r = 0.46, Vmax r = 0.33). No difference in kinetic properties was found between schizophrenic and non‐schizophrenic twins.
Platelet monoamine oxidase activity in schlzophrenic families‐kinetic aspects
Authors: Koide Yayoi , Sääf Jan , Wahlund Lars‐Olof , Roos Svante B. , Wetterberg Lennart
Published: July 2010

Monoamine oxidase activity (MAO) was determined in platelets in samples from a North‐Swedish pedigree with a high frequency of schizophrenia. The MAO assay was performed with phenethylamine as substrate and with two concentrations of oxygen (0.06 and 0.12 mM). A tendency to lowered Vmax and increased apparent Km values was observed among the schizophrenic subjects, although there were no statistically significant differences in apparent Km and Vmax values between schizophrenics and their non‐schizophrenic relatives.
Dopamlne metabolism in red blood cells in schizophrena
Authors: Lewander Tommy , Pongracz Gun V. , Bäckström Maria , Wetterberg Lennart
Published: July 2010

A method was developed for the separation by thin‐layer chromatography of 14C‐labelled 3‐methoxy, 4‐hydroxyphenethylamine, 3‐hydroxy, 4‐methoxyphenethylamine and 3,4‐dimethoxyphenethylamine (DMPEA) after incubation of dopamine with catechol‐O‐methyltransferese (COMT) in lysates of human red blood cells (RBC). 14C‐methyl‐S‐adenosyl‐menthionine was used as the methyl donor. Total COMT activity with noradrenaline or dopamine as substrates, respectively, and the pattern of 14C‐methylated metabolites of dopamine were measured in RBC of 47 schizophrenic patients and in 34 control subjects. There were no differences between patients and controls. DMPEA was not formed by RBC in schizophrenic patients (or in controls), a finding which argues against the “pnk spot”/DMPEA hypothesis of schizophrenia. The methods used seem suitable for studies of other human disorders where COMT might be involved.
Gene homologies and linkage conservation
Authors: Lundin Lars‐G.
Published: July 2010

Rapid progress in the mapping of some mammalian genomes, especially those of man and the house mouse, has revealed the existence of chromosomal regions that have been conserved over long evolutionary periods. Different aspects of this subject have been treated in recent reviews (Renwick 1972, Ohno 1973, Bodmer 1975, Minna et al. 1976, Searle 1976, Finaz et al. 1977, Lalley et al. 1978 and Lundin 1979). Not only has it been possible to identify orthologous chromosomal regions in several mammalian species, but also quite extensive paralogous regions in man and the mouse have been suggested (Lundin 1979). For a definition of orthologous and paralogous genes see Lundin (1979).
Plasma dopamine β‐hydroxylase activity in a North Swedish isolate with a high frequency of schizophrenia
Authors: Ross Svante B. , Böök Jan A. , Wetterberg Lennart
Published: July 2010

Plasma dopamine β‐hydroxylase (DBH) activity was determined in 115 members of a North Swedish geographical isolate with a high frequency of schizophrenia, of which 30 persons had schizophrenia, and was compared with a Middle Swedish population of 185 apparently healthy persons. There was no significant difference between the schizophrenic group and their healthy relatives or between the North and Middle Swedish populations. The number of persons with very low plasma DBH activity in the North Swedish population appeared to be less than those in the control population.
An experimental geneticist looks at catecholamine metabolism
Authors: Shire J. G. M.
Published: July 2010

The contributions of genetic variation, including that at unstable and duplicated loci, interactions between alleles at different loci and genotype‐environment interaction to observable phenotypic variation in experimental animals are discussed with particular reference to catecholamine metabolism. The possibilities and complexities involved in extrapolating to human populations, and to behavioural consequences of biochemical variation, are outlined.
Thermal stability and the biochemical genetics of erythrocyte catechol‐O‐methyltransferase and plasma dopamine‐β‐hydroxylase
Authors: Weinshilboum Richard , Dunnette Joel
Published: July 2010

The levels of activity of human erythrocyte (RBC) catechol‐O‐methyl‐transferase (COMT) and human plasma dopamine‐β‐hydroxylase (DBH) are inherited in a monogenic fashion. The COMT in erythrocytes of subjects homozygous for the allele for low basal enzyme activity,COMTL, is more thermolabile than that in the erythrocytes of subjects with genetically high basal enzyme activity. This observation suggests that the locusCOMTmay represent the structural gene for COMT in man. Wide individual variations in the thermal stability of human plasma DBH also occur. There is a significant familial aggregation of the trait of thermolabile plasma DBH. Although subjects with thermolabile plasma DBH have average basal plasma DBH activity only about 55% of that of subjects with thermostable enzyme, the trait of thermolability does not cosegregate withDBHLL, the allele for very low basal plasma DBH activity. Studies of thermal stability may help to increase our understanding of the biochemical basis of the genetic regulation of catecholamine enzymes in man.
Monoamine oxidase, phenylethylamine, norepinephrine and schizophrenia
Authors: Wyatt Richard J. , Karoum Farouk , Stoff David M. , Kleinman Joel E. , Gillin J. Christian , Jeste Dilip V. , Potkin Steven G.
Published: July 2010

The chain of events from decreased MAO activity in the peripheral blood of certain schizophrenic patients, particularly paranoid patients, to in creased concentrations of PEA, to increased NE and NE turnover in the brain of schizophrenic patients, may prove not to be as closely linked as the current hypothesis and available data suggest. Nevertheless, the notion that this chain exists is testable and provides an integrated hypothesis of etiology for a subgroup of schizophrenic patients.
Ocular manifestations in a family with probably X‐linked cataracts
Authors: Pavone Lorenzo , Rosa Mario La , Sorge Giovanni , Scaletta Santi , Volti Salvatore Li , Mollica Florindo
Published: July 2010

A family with probably X‐linked congenital cataracts is reported: three males were affected, while two heterozygous females showed Y‐sutural opacities, and a third one was blind as a result of juvenile bilateral cataracts.
Diagnosis of Refsum's disease using [1‐14C]phytanic acid as substrate
Authors: Poulos A.
Published: July 2010

The suitability of using [1‐14C]phytanic acid as a substrate for the diagnosis of Refsum's disease has been examined. Normal fibroblasts cultured in medium containing low concentrations of foetal calf serum (0.5 %) oxidised added [1‐14C]phytanic acid to 14CO2 only slowly up to about 2 days; beyond this period a marked stimulation in oxidation was observed. Easily measurable conversion of the radiolabeled acid (from 1.5 to 5.0%) was obtained by numbers of cells at least one order of magnitude fewer than previously described. Fibroblasts from adult patients with Refsum's disease displayed about 5–10 % of the normal mean activity. Small differences in residual activity were observed in the different cell lines. However, no obvious relationship was found between the degree of residual activity, the level of plasma phytanate, and the patient's clinical condition and history.
Heterogeneity and pleiotropism in the Moebius syndrome
Authors: Legum Cyril , Godel Victor , Nemet Pinhas
Published: July 2010

Three families affected by Moebius syndrome are described. The difference in patterns of inheritance and the variability in phenotype encountered in these families suggest that there is considerable heterogeneity and pleiotropism in this disorder.
X‐Linked recessive primary retinal dysplasia: clinical findings in affected males and carrier females
Authors: Godel Victor , Goodman Richard M.
Published: July 2010

Three unrelated families (two Jewish and one Druze) are reported, in which a total of eight males exhibited the ophthalmological findings of primary retinal dysplasia. Since our affected male members only have eye findings, this disorder is readily differentiated from Nome's disease in which other parts of the nervous system are involved. The family pedigrees along with the clinical features support an X‐linked recessive mode of transmission for this condition. Female carriers for this gene may show varying types of retinal fold changes. In addition, most of these same presumed female carriers also demonstrated changes in the stroma of their irides, resulting in a gray to grayish‐blue color. At present, it is not possible to state definitely whether or not this latter observation is a feature of the carrier state.
The femoral hypoplasia ‐ unusual facies syndrome: A genetic entity?
Authors: Lord Joan , Beighton Peter
Published: July 2010

Nine patients with bilateral femoral hypoplasia have been investigated in an attempt to elucidate the syndromic identity and pathogenesis of the femoral hypoplasia‐unusual facies syndrome (FH‐UFS). We believe that the FH‐UFS represents the end of the spectrum of a malformation complex and that it does not exist as a specific syndromic entity. Available evidence indicates that the pathogenesis is multifactorial rather than the result of any simple genetic mechanism.
Antenatal diagnosis of mosaic trisomy 8 confirmed in fetal tissues
Authors: Swisshelm K. , Rodriguez M. L. , Luthy D. , Salk D. , Norwood T.
Published: July 2010

An aneuploid karyotype with an extra submetacentric C‐group chromosome was observed in all metaphase cells in 5 of 24 primary amniotic fluid cell clones and in admixture with normal cells in two additional clones. Trisomy 8 was demonstrated by R‐banding. The parents elected to terminate the pregnancy. Successful cultures were initiated from nine fetal tissues and aneuploid cells were observed in cultures derived from two separate sites in the skin.
The significance of different types of information in calculating the probability that a female relative of a Duchenne muscular dystrophy patient is a carrier
Authors: Kate Leo P. ten , Offringa Pieter J.
Published: July 2010

Carrier probabilities were calculated in 27 Duchenne muscular dystrophy (DMD) families with 68 possible carriers on whom carrier testing data were available. For each of the 68 possible carriers, eight different calculations were performed. The calculations differed by leaving out none, one, two or all three of the following different types of posterior information: the result of carrier testing in the consultand; the presence of unaffected sons of possible carriers in the family; the result of carrier testing in possible carriers, other than the consultand. All three types of posterior information proved to be equally important. Our data thus provide evidence in favour of the whole family approach in DMD genetic counselling as opposed to counselling of isolated DMD relatives.
A boy with true hermaphroditism and sex chromosome mosaicism and a fertile woman with Turner mosaicism in a family with a translocation 8p:19p
Authors: Annerén Göran , Frykberg Tore , Gustavson Karl‐Henrik
Published: July 2010

In a family with a balanced translocation t(8;19)(p21p13), there was a boy with true hermaphroditism and a karyotype 46, XX/46XY, t(8p;19p), and a woman with Turner mosaicism 46, XX, t(8p;19p)/45, X, t(8p;19p). Both of them had whole body chimerism, which in the boy and possibly also in the woman was due to the occurrence of double fertilization followed by fusion of the zygotes. The pathogenetic importance of the translocation for the development of these aberrations, and the clinical picture in the two patients are discussed.
Properties of sulfatases in cultured skin fibroblasts of multiple sulfatase deficient patients
Authors: Yutaka Tohru , Okada Shintaro , Kato Tomochika , Inui Koji , Yabuuchi Hyakuji
Published: July 2010

Various sulfatase activities were assayed in cultured skin fibroblasts from patients with multiple sulfatase deficiency (MSD). MSD cell lines displayed deficiencies of arylsulfatase A and iduronate sulfatase, but activities of arylsulfatase B, N‐acetylgalactosamine 6‐sulfate sulfatase and N‐acetylglucosamine 6‐sulfate sulfatase were within normal ranges, but not consistently. Arylsulfatase A, minor anionic arylsulfatase and N‐acetylgalactosamine 6‐sulfate sulfatase in MSD cell lines had similar Km, pH optima, inhibitory or activator sensitivity to that of normal skin fibroblasts. Arylsulfatase B in MSD cell lines also had properties similar to that of normal skin fibroblasts, except an abnormal heat stability. From our results, we conclude that properties of arylsulfatase A, minor anionic arylsulfatase and N‐acetylgalactosamine 6‐sulfate sulfatase in MSD fibroblasts were intact. On the other hand, arylsulfatase B in MSD might be a functionally abnormal enzyme.
Triphalangeal thumbs‐ectrodactyly in a sporadic case
Authors: Majewski F. , Kemperdick H. , Goecke T.
Published: July 2010

A sporadic female case of German extraction is reported with triphalangeal thumbs and brachy‐ectrodactyly, which to our knowledge has been observed in only two Mexican families up to now. Apart from the previously described symptoms, in this case symphalangism of toes and partial duplication of one big toe occurred. The wide variability and differential diagnosis of this rare autosomal dominant disorder are discussed.
Intracellular retention of lysosomal enzymes in cystic fibrosis
Authors: Harris Ann
Published: July 2010

Multiple leakage of lysosomal enzymes from cystic fibrosis fibroblasts into the extracellular space has been suggested to occur but was not observed in these experiments. Both extracellular and intracellular levels of enzyme activity were within the normal range. The release of lysosomal enzymes from individual cell lines was seen to be affected both by intrinsic properties of each cell line and by many external factors.
Interstitial deletion 4q and Rieger syndrome
Authors: Ligutić Ivo , Brečević Lukrecija , Petković Iskra , Kalogjera Teodora , Rajić Zdravko
Published: July 2010

In a 9‐year‐old girl, the diagnosis of the Rieger syndrome, an autosomal dominant disorder of variable expressivity, was established on the basis of characteristic congenital ocular and dental anomalies. Cytogenetic analysis revealed a de novo interstitial deletion of 4q.
Probable autosomal dominant infantile pyloric stenosis in a large kindred
Authors: Fried K. , Aviv S. , Nisenbaum C.
Published: July 2010

The proposita was operated on in this hospital in 1980 for pyloric stenosis, at the age of 13 days, after vomiting had started 5 days previously, and the diagnosis had been confirmed on radiological investigation. Her older sister and two male cousins of the father had the same operation in Israel in infancy. The other nine affected individuals in the family were known to have had projectile vomiting for several months in infancy, and two of them died in infancy. They were all born in the Jewish community in Georgia, U.S.S.R. The male:female sex ratio was 2:2 for the operated cases, and 4:5 for those with projectile vomiting history. There was no skipping of a generation. This family indicates that pyloric stenosis can exceptionally be inherited as a simple autosomal dominant trait.
Huntington's disease: implications of associated cellular radiosensitivity
Authors: Chen Philip , Kidson Chev , Imray F. Paula
Published: July 2010

Ionizing radiation sensitivity was studied in a series of Huntington's Disease (HD) patients and controls by measurement of radiation‐induced chromosome aberrations in lymphocytes and by clonogenic survival of lymphoblastoid cell lines. As a group, HD patients were found to be significantly more radiosensitive than controls (p < 0.001), but there was an overlap between values for the two groups such that an absolute distinction is not possible. These data are consistent with an association between HD and radiosensitivity but not with identity between HD and a radiosensitive phenotype, so that cellular radiosensitivity cannot be used for individual diagnosis. Analysis of three families including 5 HD patients and 11 first‐degree relatives confirmed this conclusion and demonstrated that even within a given family presymptomatic diagnosis cannot be based on measurement of radiosensitivity. However, the common association of cellular radiosensitivity with HD probands and their families provides a potential lead to the identification of HD gene(s) and so to an eventual understanding of the aetiopathogenesis of this disease at the molecular level.
Low density lipoprotein receptor activity in cultured fibroblasts from subjects with or without ischemic heart disease (in the absence of familial hypercholesterolemia)*
Authors: Maartmann‐Moe Kjell , Magnus Per , Børresen Anne‐Lise , Berg Kare
Published: July 2010

Fibroblast strains from six subjects with ischemic heart disease (IHDs) were compared to strains from 43 subjects without a history of IHD (non‐IHDs), with respect to association (plasma membrane binding plus intracellular accumulation) and degradation of radio‐iodinated LDL (125I‐LDL). The subjects (25 females and 24 males) were selected on the criteria that they were twins (one from each pair), 58–61 years old, and living within 200 km of Oslo. None of them suffered from autosomal, dominant hypercholesterolemia, which is associated with reduced cell surface LDL receptor activity and increased susceptibility to IHD.

There was a trend towards lower 125I‐LDL association values in strains from IHDs than in strains from non‐IHDs. The difference was not statistically significant (P%0.11). However, fibroblast degradation of 125I‐LDL was significantly lower in cells from IHDs than in cells from non‐IHDs (P = 0.009).

There was a significant negative correlation between, on one hand, serum total cholesterol level and on the other fibroblast association (P%0.03) or degradation (P = 0.04) of 125I‐LDL.

We have previously presented data indicating that fibroblast association of LDL may be determined by alternate genes at one single locus. Together with the present limited data, this raises the possibility that normal genes at the LDL receptor locus may render subjects more or less susceptible to ischemic heart disease.
Chorio‐retinal dysplasia, microcephaly and mental retardation. An autosomal dominant syndrome
Authors: Tenconi Romano , Clementi Maurizio , Moschini G. Battista , Casara Gianluca , Baccichetti Carlo
Published: July 2010

A condition is described which is characterized by chorio‐retinal dysplasia, microcephaly and mental retardation, transmitted in an autosomal dominant fashion with variable expressivity. It is suggested that this condition is a distinct autosomal dominant syndrome.
Lp(a) lipoprotein enters cultured fibroblasts independently of the plasma membrane low density lipoprotein receptor
Authors: Maartmann‐Moe Kjell , Berg Kare
Published: July 2010

Lp(a) lipoprotein shares the apoB antigen with low density lipoprotein (LDL). The Lp(a) antigen is unique for Lp(a) lipoprotein. Fibroblast association (i.e. plasma membrane binding plus intracellular accumulation), plasma membrane binding, intracellular accumulation and degradation of 125I‐Lp(a) lipoprotein were studied in strains from subjects with or without autosomal dominant hypercholesterolemia (HC). Subjects without HC (non‐HCs) have cell surface receptors for low density lipoprotein (LDL receptors). On the average, HC heterozygotes have half‐normal LDL receptor activity and “receptor‐negative” HC homozygous cell strains lack functional receptors.

Fibroblast processing of 125I‐Lp(a) lipoprotein was compared to fibroblast processing of 125I‐LDL. LDL receptor‐dependent processing of 125I‐LDL was saturated at about 50 μg apo 125I‐LDL ml‐1 in non‐HC fibroblasts. 125I‐Lp(a) lipoprotein was, however, largely processed independently of receptor mechanisms by non‐HC cells (highest concentration examined 150 μg apo 125I‐Lp(a) lipoprotein ml‐1). Lp(a) lipoprotein did not interfere with 125I‐LDL for fibroblast association, but inhibited 125I‐LDL degradation. The interference with 125I‐LDL degradation was time dependent Only slightly higher 1251‐Lp(a) lipoprotein processing values were found in non‐HC and HC heterozygous strains than in “receptor‐negative” HC homozygous strains. However, non‐HC cells had more than tenfold higher 125I‐LDL processing values than “receptor‐negative” HC homozygous cells.
Translocation X;9(q24;q34) in a girl with ovary dysfunction
Authors: Mijin Ksenija , Adžić Slavenka , Marković Stefanija , Sulovic Vojin , Matijašević Stevan
Published: July 2010

A balanced de novo translocation X;9(q24;q34) was discovered in a 21‐year‐old girl with oligomenorrhoea. The structurally normal X was late replicating in all cells. The results indicate that an X chromosome breakpoint at q24 provokes ovary dysfunction.
Chromosome maps of man and mouse
Authors: Dalton T. P. , Edwards J. H. , Evans E. P. , Lyon M. F. , Parkinson S. P. , Peters J. , Searle A. G.
Published: July 2010

Graphical displays and listings are presented showing the chromosomal locations of the loci referred to in the Edinburgh Human Gene Mapping Conference (1979), those regarded as homologous between mouse and man, and some others used in linkage studies of chromosomal rearrangements in the mouse. These are all stored on the files of a small computer allowing simple updating and modification.
The transition in frequency of Y‐chromatin in males during early infancy
Authors: Lyberatou‐Moraitou E. , Kourounis G. S. , Grigori‐Kostaraki P. , Lyberatos C. , Aravantinos D. , Kaskarelis D.
Published: July 2010

The frequency of Y‐positive lymphocytes in blood smears at delivery and during early infancy was assessed to determine the exact time at which it is similar to the frequency in adults. It was found that at day 0 of life the frequency of Y‐chromatin‐positive cells was 26.6 ± 13.2% (mena ± SD); subsequently, it increased gradually to 41.2 ± 12.2 %, 49.7 ± 9.7 % and 55.4 ± 5.2 % at the 30th day, the end of the 3rd month and the end of the 4th month of life, respectively (Fig. 1). The frequency in adult males was 57.8 ± 5.8 %. This is the first time that the same infant population has been investigated in all the stages of a study.
Intrafamilial correlation in Friedreich's ataxia
Authors: Winter R. M. , Harding A. E. , Baraitser M. , Bravery M. B.
Published: July 2010

The distributions of age of onset and age of losing the ability to walk independently in patients with Friedreich's ataxia from 93 sibships are presented. Intrafamilial correlation was investigated using three methods: the Pearson product‐moment correlation coefficient and two estimates of correlation based on analysis of variance, one a maximum likelihood method and the other using a weighted mean family size. All three resulted in correlation coefficients (r) of around 0.5 for both disease parameters. The latter two methods yielded similar values just greater than 0.5 and it is considered that these are more reliable estimates of intraclass correlation as there were a variable number of family members in the sibships studied.

Although the examination of intraclass correlation in Friedreich's ataxia was not highly suggestive of genetic heterogeneity, the observed proportion of first cousin marriages amongst the parents of the sibships studied was about twice the expected proportion. Overall, the data would be compatible with genetic heterogeneity if one genotype is more prevalent than others. An alternative hypothesis is that there are different modifying genes operating within different families in which Friedreich's ataxia occurs.
Abnormal phenotype in a child with the same balanced translocation (5;7)(p15;q22) as his father
Authors: Cabalun M. Rosa , Miro Rosa , Egozcue J.
Published: July 2010

A 10‐month‐old boy with male Turner phenotype and heart malformations showed the same balanced reciprocal translocation as his carrier father. The relationship between balanced chromosomal rearrangements and phenotypic anomalies, especially dominant syndromes with variable expression is discussed through a review of the literature.
Limb deficiency syndrome in half‐sibs
Authors: Hecht Jacqueline T. , Scott Charles I.
Published: July 2010

A newly recognized limb deficiency syndrome in half‐sibs is described. The similarity of the limb malformations is suggestive of genetic etiology, which is discussed.
The apoE polymorphism studied by two‐dimensional, high‐resolution gel electrophoresis of serum
Authors: BØRRESEN A.‐L. , BERG K.
Published: July 2010

The apoE polymorphism of human very low density lipoprotein (VLDL) was studied by the two‐dimensional high‐resolution gel electrophoresis technique of O'Farrell, which combines isoelectric focusing and SDS‐polyacrylamide gel electrophoresis. With whole serum, six major patterns and two “sub‐variants” of apoE were observed. A series of twin pairs (21 monozygotic (MZ) and 13 dizygotic (DZ) pairs) as well as unrelated people were analyzed. Both members of MZ pairs always exhibited the same pattern, whereas DZ twins were often discordant. The patterns observed would be consistent with the hypothesis that three apoE isopeptides are coded for by three different alleles at one single locus. In this small series, all three postulated homozygous patterns, namely apoE‐II, apoE‐III and apoE‐IV as well as the three heterozygous patterns apoE‐11, 111; apoE‐III, IV and apoE‐ll, IV were seen.
Effects of age, sex and genes on sister chromatid exchange
Authors: Waksvik Helga , Magnus Per , Berg Káre
Published: July 2010

Sister chromatid exchange (SCE) was studied in cultured lymphocytes from a limited series of 21 like‐sexed twin pairs; 11 monozygotic (MZ) and 10 dizygotic (DZ) pairs. The 18 subjects, who were between 57 and 61 years old, had an SCE mean value (x̄) of 8.0 whereas the 24 subjects between 33 and 39 years of age had a mean of 6.8. The difference was statistically significant (P<0.001). The effect of age appeared to be present in both sexes. No significant difference was found between females (x̄%7.3) and males (x̄%7.5), nor between smokers (x̄%7.3) and non‐smokers (x̄%7.4). Drug users had a slightly higher mean (x̄%7.9) than non‐users (x̄= 7.0) (P < 0.05). This trend was found in each age group. The within‐pair variance was slightly higher in DZ than in MZ pairs. The difference was not significant. We conclude that genetic factors are probably not a major source of subject variation in SCE mean value.
Factor XIII deficiency
Authors: Fried K. , Kaufman S. , Beer S.
Published: July 2010

A girl and her newborn brother with factor XIII deficiency from a family, which has not previously been reported, are described; two other Israeli families are reviewed. The sexes are equally affected. In two of the three families there was consanguinity among the parents. The families fit autosomal recessive inheritance and rule out X‐linked recessive mode of transmission. The proposita was born to unrelated healthy parents from the Bnei Israel Jewish community of Bombay. She was re‐admitted to hospital at the age of 15 days after umbilical bleeding. Later in infancy there were repeated haematomata and the diagnosis of factor XIII deficiency was established at the age of 1½ years.
A new growth deficiency syndrome
Authors: Myhre Selma A. , Ruvalcaba Rogelio H. A. , Graham C. Benjamin
Published: July 2010

A new syndrome characterized by growth and mental deficiency, unusual facies, hearing loss, generalized muscular hypertrophy, joint limitations and skeletal deformities is described. Older paternal age has been documented in these two cases.
Clinically manifesting carriers in Duchenne muscular dystrophy
Authors: Yoshioka Mieko
Published: July 2010

Three manifesting carriers of Duchenne muscular dystrophy were examined clinically and histologically. All had muscle weakness in the upper and lower limbs without facial muscle involvement, onset being at the ages of 35, 19 and 25 years, respectively. Pseudohypertrophy of calves was evident in all cases. Biochemical, electrocardiographic and histological observations revealed the presence of myopathy in all cases. Sex chromatin patterns were normal. Compared with the manifesting carriers previously reported by others, at least one case showed more severe histological findings which were typical of the advanced stage of Duchenne muscular dystrophy. The cardiac involvement in three cases was moderate. A possible involvement of other factors besides Lyonization influencing the development of myopathy in the carriers is suggested.