bluuebunny/crossref_metadata_2025_split huggingface dataset:
Cystic fibrosis heterozygote detection: A study on a normal population
Authors: Danes B. Shannon 
Published: July 2010

Detection of the cystic fibrosis (CF) heterozygote by testing for cystic fibrosis factor activity (CFFA) in serum samples using bioassays has been reported to give unreliable results. The present study was undertaken to find whether the use of medium from short term white blood cell or skin fibroblast cultures, rather than serum, as the test sample would eliminate such inconsistencies. Short term white blood cell cultures were established from 107 normal, healthy individuals. Cultures from 97 had no CFFA, six (No. 1–6) showed variable results and four (No. 7–10) had activity in all four tests done on a single sample. When the assays were repeated 3 months later on new cultures from these four positive CFFA individuals, two showed activity (Nos. 7 & 9) and two did not (Nos. 8 & 10). All 10 individuals whose cultures showed CFFA had histories of allergies. The association of CFFA in the culture medium derived from individuals having allergies with the intermittent presence of this activity suggested that environmental factors induced a CFF‐like activity in such white blood cell cultures. The oyster ciliary assay, using medium from white blood cell cultures, cannot be used for screening for the CF heterozygote since the substitution of culture medium for serum did not eliminate inconsistent results and CFFA was not specific by this assay for the CF gene.Of the fibroblast lines established from the four persons whose initial white blood cell cultures consistently showed CFFA, only one (No. 7) showed the CF culture phenotype (CFFA positive and metachromasia).
An XX male: Cytogenetic and endocrine studies
Authors: Rios Maria E. , Kaufman Robert L. , Sekhon Gurbax S. , Bucy James G. , Bauman Joan E. , Jacobs Lawrence S. 
Published: July 2010

A 3 year old black male with ambiguous genitalia had a 46, XY karyotype in a bone marrow culture and an intermediate buccal smear result, suggestive of a mosaic of chromatin positive and chromatin negative cells. Upon re‐evaluation at age 15 years, he had a 30% positive buccal smear and a 46, XX karyotype in cultures of peripheral blood lymphocytes, skin fibroblasts, bone marrow, and testis. No Y‐body fluorescence was detectable in interphase cells from the testicular biopsy or the various cultures.The testicular biopsy appeared similar to that of XXY males, and primary hypogonadism was documented by elevated LH (107 mIU/ml) and FSH (57 mIU/ml) levels in conjunction with low testosterone (142 ng/100 ml). Administration of hCG produced qualitatively normal acute responses of testosterone and estrogens.The cytogenetic data provide support for the theory that at least some XX males once had a Y‐containing cell line which was subsequently lost.
The significance of “unspecific neuropathy” in hereditary ataxias and related disorders
Authors: Skre Håvard 
Published: July 2010

Neurological findings such as polyneuropathy, hyporeflexia, deformities, ataxic signs, and inverted plantar responses were found more frequently in unaffected sibs and other close relatives of people with hereditary ataxias or allied disorders (HA) than in a normal population sample. Introduction of a scoring system for neurological signs allowed the degree of neurological impairment to be estimated. The number of people with scores exceeding the limit of normality (sum score higher than 3.4) was counted among the members of HA families. This number was found to be greater in families where HA segregated as a recessive trait than in those where it segregated as an autosomal dominant trait.The frequency of cases with high scores (“unspecific neuropathy” (Un)) observed in 1st and 2nd degree relatives of patients with dominant HA, suggested a hereditary basis for Un. The ratios were not compatible with simple Mendelism, but the observations fitted well with a hypothesis of polygenic inheritance. Un clustering in families with autosomal dominant HA could be due to a selection phenomenon through a negative assortative mating.Un cases observed in families with recessive HA may, in several instances, reflect disease manifestations in heterozygotes.
A computer‐oriented linkage analysis scheme
Authors: Freidhoff Linda B. , Chase Gary 
Published: July 2010

A comprehensive, computer‐oriented scheme for genetic linkage analysis is described. It computes the likelihood of a complex pedigree allowing for many non‐standard features including multiple alleles (up to four per locus), multiple mates, more than one mating in the eldest generation, consanguinity, missing or partially tested persons, and different recombination fractions between males and females.The program works by computing weighted likelihoods in a vertical, descending fashion. First, the set of possible genotypes for the members of the eldest generation is determined and prior probabilities assigned to these states of nature (based on gene frequency calculations). Phenotypic information is used to modify these probabilities in the standard manner. Then, for a particular set of genotypes, the conditional likelihood of the remainder of the pedigree is computed. This calculation may itself be many‐branched and therefore a computer is necessary to keep track of the stages of the process. When the youngest generation has been taken into account, a final likelihood is determined, reflecting all information in the pedigree.The current version of the program successfully calculates the exact likelihood of a complex pedigree which was designed to exploit the non‐standard features of the program. It has also computed likelihoods for a published pedigree, and the results are essentially equal to those obtained by the other authors using a previously available computer scheme for linkage analysis.
Genetics of the GPT system. Family, mother/child and association studies
Authors: Olaisen Blørner 
Published: July 2010

GPT types are presented for 150 Norwegian matings, with 454 children, and 1703 Norwegian mother/child combinations. There were five exceptions to a simple codominant inheritance pattern, all believed to be due to a segregating Gpl0‐allele. Rare phenotypes were encountered in two of the families and in 11 of the motherlchild combinations. Compiled family material and mother/child material are presented.No indication of association was found between GPT types and phenotypes within the ABO, Rh, MN, Hp, Gc, C3, PGM1, and ACP1 systems. There is a marked association between EBS‐Ogna (epidermolysis bullosa simplex, type Ogna) affection and GPT phenotypes. This reflects the Gpt‐EBS1 linkage phase. No evidence was found of association between GPT phenotypes and either nephrological diseases or PKU (phenylketonuria).
Friedreich's ataxia in Western Norway
Authors: Skre Håvard 
Published: July 2010

Friedreich's ataxia (FA) was investigated in Western Norway, an area comprising several isolated communities and with a population of 725,000 as at 1 January 1968. The prevalence of FA was estimated to be 1/100,000 in this population. An autosomal recessive mode of transmission appeared likely in all instances.The gene frequency was only 7.9.10‐‐5, but the consanguinity rate was high in the families observed. The mutation rate was relatively high at 1.6.10‐‐5.The clinical features displayed by the 10 examined patients agreed well with those observed by other investigators. Spinal and cerebellar ataxia dominated the clinical picture. In most cases signs of peripheral neuropathy were also observed. Epilepsy was seen in some cases, and also dementia.Unspecific neuropathy, defined according to a scoring system may represent disease manifestation in FA heterozygotes.
Materno‐fetal ABO incompatibility as a cause of spontaneous abortion
Authors: Lauritsen J. Glenn , Grunnet N. , Jensen O. Myhre 
Published: July 2010

In a series of 288 spontaneous abortions occurring during the first 16 weeks of gestation, simultaneous karyotyping and ABO blood grouping of 555 of the parents were carried out. In 74 of the 288 chromosome‐analyzed abortuses, the ABO blood group of the fetus was determined by the immuno‐fluorescence technique and the mixed cell agglutinating reaction in fetal tissue. The results of the blood grouping were compared with the ABO blood group frequencies of 8818 blood donors from the same area.Among abortuses with normal karyotype, a significantly higher frequency of ABO incompatibility was found between mother and fetus (P < 0.005) and also between mother and father (P < 0.01) in comparison with abortuses with abnormal karyotype. Furthermore, the ABO blood group frequencies of the karyotypically normal fetuses deviated significantly from those of fetuses with abnormal karyotypes (P < 0.001). No significant difference was found when the total ABO frequencies of the abortuses and of their parents were compared with the frequencies in the control group.It is concluded that the ABO incompatibility between mother and fetus is likely to be a cause of early spontaneous abortions, but almost exclusively in chromosomally normal abortuses. In the present series of cases, the maximum fraction of abortions caused by materno‐fetal ABO incompatibility is estimated to be 18 %.
Lp(a) lipoprotein/pre‐ß1‐lipoprotein in Swedish middle‐aged males and in patients with coronary heart disease
Authors: Dahlén G. , Berg K. , Gillnäs T. , Ericson C. 
Published: July 2010

A strong, positive association (P < 0.0001) was found between the presence in serum of pre‐β1‐lipoprotein upon electrophoresis in 0.5% agarose and the Lp(a+) phenotype in a series of 103 males aged 50–52 years participating in a health control study and in a series of 58 patients with sustained myocardial infarction. Both lipoprotein phenomena were more prevalent in the 58 patients than in the 103 presumably healthy males.The lack of any significant difference between total cholesterol values in the patients and the controls, despite the higher frequency of phenotype Lp(a+) in the former group, argues against the suggestion by Walton et al. (1974) that the increased Lp(a+) frequency in patients with coronary artery disease may be caused by a general increase in the concentration of low density lipoproteins (LDL).
Autosomal recessive syndrome of cerebellar ataxia and hypogonadotropic hypogonadism*
Authors: Neuhäuser Gerhard , Opitz John M. 
Published: July 2010

An ataxia‐hypogonadism syndrome is reported in at least four of 15 family members (two brothers and two sisters). Consanguinity could be proven by genealogical studies; parents were second cousins. The onset of cerebellar ataxia in three sibs was at about 12–20 years, in the proposita at 33–38 years; progression was very slow. Hypogonadotropic hypogonadism was reflected in failure of maturation of secondary sexual characteristics, eunu‐choidism, absence of libido and infertility.The concurrence of hereditary ataxia and hypogonadotropic hypogonadism is discussed and explained as pleiotropic effects caused by the homozygous state of a rare autosomal recessive gene. A review of the literature suggests that this is a previously undescribed disorder.
Associated congenital malformations in retinoblastoma
Authors: Bonaïti‐Pellié C. , Briard‐Guillemot M. L. , Feingold J. , Frézal J. 
Published: July 2010

A complete family investigation was made for 598 cases of retinoblastoma and details of any associated congenital malformations were recorded. Associated malformations were found in seven cases, four of which were cleft palate. There was a highly significant difference between the frequency of cleft palate in our cases with retinoblastorna and the frequency in the general population.This result supports the hypothesis that cases of retinoblastoma with associated congenital malformations are caused by germinal mutations.
Frequency of phenylketonuria in Norway
Authors: Saugstad Letten Fegersten 
Published: July 2010

By January 1973, a total of 146 homozygotes (born between 1875 and 1972) for phenylketonuria (PKU) had been identified in Norway. This is an incomplete total, particularly in respect of PKU cases born before 1950, because of the PKU mortality rate.Between 1951 and 1972, the observed incidence of PKU was unchanged at 0.07 ± 0.01 per 1000 live births. Haematological screening of about one‐third of all births in Norway between 1966 and 1972 indicated an incidence of 0.07 ± 0.02 per 1000 liveborn screened. As expected, this was well below the observed incidence of 0.11 ± 0.01 per 1090 from screening data from Denmark, and considerably higher than the observed value of 0.03 ± 0.01 per 1000 screened in Sweden.In comparison, indirect estimates, using the inbreeding coefficient of parents of PKUs and that of the general population in Norway in the corresponding years (1874–1972), suggested a fall in incidence of PKU in Norway from 0.14 ± 0.15 per 1000 live births in 1918, to 0.08 ± 0.08 per 1000 in 1941, and to 0.06 ± 0.06 per 1000 live births in 1972.The present level of inbreeding in Norway (obtained from the Medical Registration of Birth) is discussed and compared with information in the 1891 census, with the parish registers between 1889 and 1902, and with the parochial lists for the years 1903–1941.
AnthropologicaI significance of phenylketonuria
Authors: Saugstad Letten Fegersten 
Published: July 2010

The highest incidence rates of phenylketonuria (PKU) have been observed in Ireland and Scotland. Parents heterozygous for PKU in Norway differ significantly from the general population in the Rhesus, Kell and PGM systems. The parents investigated showed an excess of Rh negative, Kell + and PGM type 1 individuals, which makes them similar to the present populations in Ireland and Scotland. It is postulated that the heterozygotes for PKU in Norway are descended from a completely assimilated sub‐population of Celtic origin, who came or were brought here, 1000 years ago. Bronze objects of Western European (Scottish, Irish) origin, found in Viking graves widely distributed in Norway, have been taken as evidence of Vikings returning with loot (including a number of Celts) from Western Viking settlements. The continuity of residence since the Viking age in most habitable parts of Norway, and what seems to be a nearly complete regional relationship between the sites where Viking graves contain Western imported objects and the birthplaces of grandparents of PKUs identified in Norway, lend further support to the hypothesis that the heterozygotes for PKU in Norway are descended from a completely assimilated subpopulation.The remarkable resemblance between Iceland and Ireland, in respect of several genetic markers (including the Rhesus, PGM and Kell systems), is considered to be an expression of a similar proportion of people of Celtic origin in each of the two countries. Their identical, high incidence rates of PKU are regarded as further evidence of this. The significant decline in the incidence of PKU when one passes from Ireland, Scotland and Iceland, to Denmark and on to Norway and Sweden, is therefore explained as being related to a reduction in the proportion of inhabitants of Celtic extraction in the respective populations.
The oro‐facial‐digital syndrome
Authors: Whelan D. T. , Feldman W. , Dost I. 
Published: July 2010

Two patients, a mother and her daughter, are presented who manifest the clinical features of the oro‐facial‐digital syndrome (OFD I), Many of these features are shared with Mohr's syndrome (OFD 11). Confusion arises when a patient presents with features common to both syndromes.The features which are always or sometimes associated with these syndromes are tabulated. The Tables also show which abnormalities are common to both syndromes and to our cases. Additional clinical and radiological features which have not been considered part of these syndromes are described. We present these cases to suggest that these syndromes should be “lumped” together as one syndrome. We propose expanding this syndrome to include ear and renal abnormalities.Our cases follow an X‐linked dominant inheritance pattern and, therefore, do not help determine the genetic controversy of these two syndromes.
A cytogenetic survey of 14,069 newborn infants
Authors: Hamerton J. L. , Canning N. , Ray M. , Smith S. 
Published: July 2010

Data from a chromosome examination of 14,069 consecutive newborn infants is presented. Successful karyotypes were obtained on 13,939 babies using short‐term blood culture and conventional staining methods. Of those, 13,645 babies had normal chromosomes; 64 (0.46%) had a major chromosome abnormality; and 230 (1.65%) had a marker chromosome; giving a total of 294 (2.11%) babies with a major chromosome abnormality or distinctive marker chromosomes.Six male babies with sex chromosome abnormalities had a 47, XXY and four a 47, XYY karyotype, and three were mixoploids. Five female babies had a 47, XXX karyotype and two were mixoploids. There were three babies with ambiguous external genitalia, all with normal karyotypes. Fourteen babies had 21‐trisomy; there were three 18‐trisomics and one 13‐trisomic. The mother of one 18‐trisomy baby had a balanced (18;21) translocation. Twenty‐four infants had a balanced chromosome rearrangement. Eleven of these were reciprocal and thirteen were Robertsonian translocations. One baby had an unbalanced derivative chromosome resulting from an 18;ll insertion. Two infants with additional unidentified fragments were detected.Two hundred and thirty babies (1:60) carrying distinctive chromosome variants were detected. The commonest variant was the Yq+ among males (0.89%). Other common variants involved the short arms of the D and G groups (0.32% and 0.57%, respectively) 16q+ (0.09%), and 1q+ (0.04%).The results of the present study when combined with five other comparable studies, thus comprising a total of 46,150 newborn infants, indicates that the frequency of major chromosome abnormalities is between 1:150 and 1:200 live‐born babies. This represents a small proportion of all conceptuses with chromosome abnormalities, which has been estimated as being approximately 1:20.It is thus clear that chromosome abnormalities form a major part of the genetic load carried by the human population. The development of chromosome banding techniques already has increased, and will further increase, the complexities of human cytogenetics and may reveal many additional rearrangements undetectable by conventional methods.
Length of Y chromosome and activity in boys
Authors: Nielsen Johannes , Nordland Eva 
Published: July 2010

In a cytogenetic‐psychological study of 47 school boys in special classes and 48 controls in normal classes in a Danish city no significant difference was found between the mean Y length. There were, however, four boys with enlarged Y among the 47 in special classes, compared with one of the 48 in the normal classes.We found a significant correlation between length of Y and level of activity with increase of level of activity correlated with increase of length of Y when both groups were taken together (P < 0.005). The mean activity score was 6.5 for the boys with Y/F 5 0.83, compared with 8.1 for those with Y/F 0.95 (P < 0.005).If the milieu is restrictive with poor understanding and support for the needs of a boy, a comparatively large Y with associated high level of activity might intensify the problems of such a boy. If the milieu is positive, understanding, permissive and with possibilities of channeling activity, the large Y associated with a high level of activity might be a positive factor in personality development and social adjustment. The present study shows certain tendencies confirming this.
Satellite association: Giemsa banding studies in parents of Down's syndrome patients*
Authors: Taysi Kutay 
Published: July 2010

Association patterns of acrocentric chromosomes in 3032 cells from chromosomally normal parents of regular mongols (nondisjunctional trisomy 21) and normal controls were studied by the Giemsa banding technique. In each group, chromosome No. 21 was found to be involved in satellite association more frequently than other acrocentric chromosomes. The most frequently seen association was between No. 21 and 22. However, no difference was shown between the parental test group and the normal controls in regard to these frequencies.These results render less tenable the proposed linkage between satellite association and the etiology of mongolism.
Hyperpipecolic acidemia associated with hepatomegaly, mental retardation, optic nerve dysplasia and progressive neurological disease
Authors: Thomas George H. , Haslam Robert H. A. , Batshaw Mark L. , Capute Arnold J. , Neidengard Lee , Ransom J. Lawrence 
Published: July 2010

A male infant with hyperpipecolic acidemia is described. To our knowledge this is only the second report of this disorder. As with the previous case, our patient's course was characterized by persistent hepatomegaly, severe mental retardation, progressive loss of developmental milestones and diminished visual acuity associated with nystagmus, abnormal discs and retinal changes. Death occurred at 2 years of age, following a progressive loss of neurological function.Pipecolic acid was repeatedly present in the serum at a concentration of 4–5 mg %. Trace amounts of this compound were also detected in the urine.In addition, an adaption of the method of Piez et al. (1956) for the direct quantitation of pipecolic acid in serum was evaluated and found to be very useful for the biochemical diagnosis of this disorder.
Hepatitis associated antigen and the ABO locus in Down's syndrome
Authors: Rundle A. T. , Atkin J. , Sudell B. 
Published: July 2010

The recent observation by Arndt‐Hansen et al. (1974) of increased frequency of blood group A over group O in blood donors positive for the hepatitis associated antigen has been investigated in Down's syndrome, in order to establish if this could account for the increased frequency of the antigen in that syndrome.Seventy‐one of 227 subjects with Down's syndrome (31.3%) were found to be positive for the antigen by haemagglutination, and comparison of these with the HAA‐subjects failed to reveal any differences in the ABO blood groups.
Diabetes mellitus: discrimination between single locus and muItifactorial models of inheritance
Authors: Goodman Madeleine J. , Chung Chin S. 
Published: July 2010

Family data from 6,559 diabetic propositi were analyzed using the method of complex segregation analysis in an attempt to discriminate the two models of two‐allele single‐locus inheritance and multifactorial inheritance for early, middle, and late onset diabetes. The three parameters in the single locus model were: degree of dominance, penetrance, and proportion of phenocopies.In early onset diabetes, the heritability estimated from the multifactorial model was so high as to indicate major gene action. In middle and late onset diabetes, best fitting singlelocus models were found to explain the data as well as the multifactorial model.
Cystic fibrosis heterozygote detection: A family study
Authors: Danes B. Shannon , Beck B. , Flensborg E. Winge 
Published: July 2010

Family studies have been done to determine if the phenotypes described for the cystic fibrosis (CF) cultured cell reliably detected the CF gene. Two culture phenotypes were studied in culture derived from consecutive generations in four CF families: (1) cystic fibrosis factor (CFF) in the medium of short‐term white blood cell cultures assayed by a modified oyster ciliary test and (2) the three characteristics of cultured skin fibroblasts (metachromasia without alcianophilia at 0.3 M MgCl2, CFF in the culture medium and metabolic cooperation with normal fibroblasts). As CF is an autosomal recessive disorder, the family offered a test unit for determining the specificity of these cell phenotypes for the CF gene.On the basis of detecting the CF culture phenotypes in the homozygote and obligatory heterozygotes, the parents, and their segregation in consecutive generations, detection of the CF gene was not possible in the white blood cell cultures, but was possible in the skin fibroblast cultures.