bluuebunny/crossref_metadata_2025_split huggingface dataset:
DNA synthesis of human XYY cells
Authors: Santesson B. , Böök J. A. , Gustavson K.‐H. 
Published: July 2010

The autoradiographic YY labelling pattern of the DNA replication in 47, XYY cells of two patients has been studied. Both Y chromosomes began DNA replication simultaneously but later than the rest of the chromosomes. During later stages the YY labelling pattern in both patients was correlated to the position of the cells in S, as indicated by the cell grain count: in cells with more than approximately 500 grains the synchronous labelling of the Y chromosomes was the rule; whereas during later stages in cells with approximately 100–400 grains, synchronous as well as asynchronous labelling in the same patient was found. In cells with less than about 100 grains, both Y chromosomes usually had completed replication. No obvious difference between the labelling pattern of the two Y chromosomes was found when cells from the 2 patients were compared at the same stage of S. Our results demonstrate the importance of analysing cells of comparable developmental stages of S when comparing DNA labelling patterns of different XYY individuals in search of a possible correlation between labelling pattern and phenotypic expression of the syndrome.In one of the patients the QM fluorescence pattern as well as the autoradiographic pattern of the same cells was studied. The characteristic intense fluorescence pattern of both Y chromosomes was found even in cells where the autoradiographic labelling pattern indicated distinct asynchrony between the two Y chromosomes. The significance of these findings is discussed.
Unusual features in familial asphyxiating thoracic dysplasia (Jeune's disease)
Authors: Schmidt R. , Pajewski M. , Mundel G. 
Published: July 2010

Asphyxiating thoracic dysplasia or Jeune's disease is a hereditary condition characterized by typical roentgenologic changes of the ribs, pelvis and extremities. Affected infants have very narrow chests and suffer from respiratory insufficiency which often leads to early death.A large family of Arabic and Greek origin is described. Two siblings were dwarfed, had narrow chests and skeletal changes similar to those seen in Jeune's disease. In both infants widening and shortening of the left lower ribs and a trident appearance of the pelvis was demonstrated. One child who was severely mentally retarded died in infancy from bronchopneumonia and the other suffers from respiratory difficulties. Other members of the family had roentgenologic changes of the pelvis, spine and skull and mental retardation, features which have not previously been described in this disease.
Polymorphism of the human Y chromosome: Fluorescence microscopic studies on the sites of morphologic variation
Authors: Tishler P. V. , Lamborot‐Manzur M. , Atkins L. 
Published: July 2010

Normalized measurements were derived from quinacrine mustard stained normal‐ and variant‐size (large and small) human Y chromosomes. These measurements were used to study three problems:(1) the mechanism underlying the evolution of common heritable variations in the length of the long arm (q) ‐ All variants demonstrated differences in length of the distal fluorocenter, and some differed from normal by an integral length (e. g., the fluorocenter of subject Large Y was twice the normal size), Y's from one subject (Short Y‐e) were also shortened in the weakly fluorescent, proximal portion, the length of which was about one fourth the normal length. These data suggest that duplications or deletions of finite lengths (possibly a basic subunit) of chromosome are one means by which the variants have evolved.(2) the extent of Yq that is genetically dispensible, and presumably inactive ‐ Variations in the Y fluorocenter produce no phenotypic effect. Additionally, Y's from a previously reported kindred have a 50 % deletion, and those from subject short 4‐e about a 75 % deletion of the weakly fluorescent portion of Yq. Although Short Y‐e demonstrates the features of dyschondrosteosis, it seems that both the fluorocenter and 50–75 % of the weakly fluorescent portion of Yq are genetically inactive.(3) the position of the secondary constriction in Yq ‐ The position of the secondary constriction is virtually identical with the origin of the fluorocenter.
High frequency of atypical pseudocholinesterase gene among Iraqi and Iranian Jews*
Authors: Szeinberg A. , Pipano S. , Assa M. , Medalie J. H. , Neufeld H. N. 
Published: July 2010

A large scale survey of the frequency of atypical pseudocholinesterase was carried out in a sample of 9,500 Jewish males in Israel. A very high frequency of the Eja gene, exceeding that reported for any other population so far studied, has been found among Iraqi and Iranian Jews (gene frequencies 0.047 and 0.075, heterozygotes frequencies 8.9 % and 11.3 %). Carriers of the Ejf gene were found among Ashkenazi (European Jews) as well as among non‐Ashkenazi Jews from Iraq, Yemen and North Africa. One case homozygous for E]S gene has been found among North African Jews.In the whole sample 8 subjects of phenotype A (frequency 1 : 1188), 8 of phenotype AF (frequency 1 :1188) and 1 with phenotype S were found. Among their family members we found additional cases with phenotypes A and AF, as well as 1 subject with phenotype F. Since these phenotypes are known to be sensitive to suxamethonium, these subjects were advised to avoid suxamethonium administration.
Three non‐mongoloid patients of similar phenotype with an extra G‐like chromosome
Authors: Gustavson K.‐H. , Hitrec V. , Santesson B. 
Published: July 2010

Three mentally retarded non‐mongolid children with very similar clinical signs and an extra G‐like chromosome are presented. In one of these patients, Case I, an attempt to trace the origin of the extra chromosome has been made by QM fluorescence analysis and autoradiography. Visually the QM pattern of the extra chromosome differs from that of chromosomes 21 and 22 by showing a diffuse fluorescence of intermediate intensity in the long arm, not unlike that found in the proximal part of the long arm of chromosome no. 13. However, whether these are sufficiently similar to indicate homologous regions cannot be decided. The autoradiographic pattern is not decisive as to the origin of the extra chromosome; it shows early labelling, as do no. 22 and the short arm and proximal part of the long arm of no. 13.Case II, a sibling of Case I, died in 1962 at the age of 6 years (Gustavson et al. 1962). In Case III the autoradiographic pattern of the five G‐group chromosomes is similar to that found in Case I.The clinical and cytogenetic features of these 3 patients are compared with those of 9 other previously reported patients with a similar phenotype and an extra small acrocentric chromosome. These 12 patients seem to constitute a specific clinical syndrome.
Chromosome survey of a hospital for the mentally subnormal Part 2: Autosome abnormalities
Authors: Newton M. S. , Cunningham C. , Jacobs P. A. , Price W. H. , Fraser I. A. 
Published: July 2010

Details of a cytogenetic survey of 1,255 patients over 15 years of age in a hospital for the mentally subnormal are reported in this and a previous communication. In this hospital only 17 % of the male patients and 11 % of the female patients had I.Q levels above 50 %.A total of 128 patients were found to have an abnormal chromosome complement. Of these, 10 had abnormalities of the sex chromosome complement, 104 had the clinical and cytogenetic features of Down's Syndrome and 14 had other abnormalities of the autosomes. Of the 104 patients with Down's Syndrome, 95 were trisomic for chromosome 21 (1 patient also had a Robertsonian translocation between two D group choromosomes), 4 had a mosaic constitution with one cell line trisomic for chromosome 21 and 5 patients had translocations of the D/G or G/G type.The 14 patients with autosomal abnormalities not associated with Down's Syndrome included 4 with an apparently balanced translocation, 3 with deletions of chromosome material, and 7 with additional chromosome material either translocated onto another chromosome or in the form of a supernumerary chromosome.Clinical and cytogenetic details and family studies are reported.
Length of the Y chromosome in criminal males
Authors: Nielsen Johannes , Friedrich URSULA 
Published: July 2010

The length of the Y chromosome has been measured in 140 newborn boys (constituting a 10 % random sample of 1,400) and in 407 criminal males.The distribution was normal in both groups, but the mean length of the Y chromosome was significantly higher in the criminal males, compared with the controls (P < 0.001).Our finClings indicate that there is a correlation between the size of the Y chromosome and the risk of criminality, with an increased risk of criminality among males with a comparatively large Y chromosome.Previous studies have shown that the variation in the length of the Y chromosome is due to variation in the fluorescent part of the long arms; our finClings indicate that this variation in length of the fluorescent part of the Y chromosome is due to variation in DNA content and not only to difference in spiralization.
Possibility of culturing foetal cells at early stages of pregnancy
Authors: Hahnemann Niels 
Published: July 2010

The results of cell culture from amniotic fluid, obtained by amniocentesis, for the purpose of prenatal genetic diagnosis, are evaluated in relation to gestational age and quantity of cells available.It is concluded that amniotic fluid from the first trimester of pregnancy is not suitable for cell culture purposes because of a scanty fluid volume and a low cellular content.
Cytogenetic studies on cultured fibroblast‐like cells derived from basal cell carcinoma tissue
Authors: Happle R. , Hoehn H. 
Published: July 2010

Chromosomal investigations were performed on fibroblast cultures established from tumour tissue of six patients with multiple basal cell carcinoma, and from one patient with a solitary basal cell carcinoma. In four instances, fibroblast cultures from specimens of unaffected skin areas Were examined simultaneously. Metaphases of peripheral blood lymphocytes were analysed in all patients. Three individuals showed increased rates of chromosomal breakage and rearrangement; the possibility of a relationship between these findings and the Occurrence of multiple basal cell carcinoma is discussed:

The chromosomal aberrations noted in one patient with multiple arsenic‐induced basal cell carcinoma probably reflect the long‐term effect of exposure to arsenic.
In the second case, the aberrations found in cultures from unaffected skin and blood lymphocytes may be due to repeated X‐ray therapy of multiple nevoid basal cell carcinoma
In the third patient, likewise affected by multiple nevoid basal cell carcinoma, the etiology of the increased frequency of chromosomally altered cells remains obscure. Taken together with two other observations (Happle et al. 1971, Happle & Kupferschmid 1972), the aberrations could indicate that in some patients with nevoid basal cell carcinoma syndrome the incidence of spontaneous chromosomal breakage tends to increase.
Increased “reproductive casualty” in heterozygotes for phenylketonuria
Authors: Saugstad L. Fegersten 
Published: July 2010

“Reproductive casualty” is defined as the occurrence of abortion antepartum hemorrhage, preterm birth and pre‐ and peri‐natal death, and of offspring with three or more obstetric complications according to Prechtl (1968).Using this definition, the “reproductive casualty” of 45 heterozygotes for phenylketonuria (PKU) is significantly raised (P <.001) compared with 328 controls.
Bilateral aniridia, multiple webs and severe mental retardation in a 47, XXY/48, XXXY mosaic
Authors: Pashayan H. , Dallaire L. , Macleod P. 
Published: July 2010

Numerous congenital malformations consisting of aniridia, hypertelorism, bilateral webbing of the cubital and the popliteal regions and bilateral cryptorchidism were documented in a phenotypic male infant. Severe mental retardation, bilateral cataracts, exophthalmia and glaucoma followed by complete blindness were noted by the time the child was 9 1/2 years of age.Leukocyte and fibroblast cultures were reported to show two cell lines, a majority of the cells showing a 47, XXY complement and a minority showing a 48, XXXY complement.
Congenital erythropoietic porphyria:A family study
Authors: Eriksen L. , Seip M. 
Published: July 2010

We present the results of a study of the porphyrin‐forming enzymes in the erythrocytes of a recently detected case of CBP, in the immediate family, and in the family of a second cousin who died in infancy with a clinical picture similar lo that seen in the present patient. Except for a moderate increase in the activity of the uroporphyrinogen synthetase in the patient's lysates no patological changes have been found either in the patient or in any of the other persons studied.Our findings do not exclude the possibility that impaired activity of the isomerase (uroporphyrinogen‐III‐cosynthetase) plays a role, but they do indicate that this is not the only or even the most important metabolic error in the present type of erythropoictic porphyria.A study of the kinship between the two families seems to make a simple autosomal recessive in. heritance unlikely, hut does not exclude dominant inheritance by a rare single gene with low penetrance carried by the fathers. It is possible that the present case may represent a type of porphyria variegata in which the metabolic defect in porphyrin biosynthesis is located not in the liver hut in the bone marrow.
Genetic aspects of familial amyloidosis with corneal lattice dystrophy and cranial neuropathy
Authors: Meretoja Jouko 
Published: July 2010

A genetic analysis of familial systemic amyloidosis with lattice corneal dystrophy, facial paresis and nephropathy has been made. The 228 sibships which were at risk of the disease contained 851 sibs who were subdivided as follows: 207 affected, 134 normal, 158 not examined, 138 not diagnosed because they were too young, and 214 dead sibs.The mode of inheritance was found to be autosomal dominant. The sex ratio corresponded to unity after adequate corrections. The corrected average proportion of affected individuals per sib‐ship was 54.4 ± 3.7% by maximum likelihood method.In two cases there was a strong suspicion of homozygosity for the condition. These cases probably have a limited survival, whereas the heterozygous cases have a better prognosis.Two areas were found to have a high prevalence of the disease: Kymenlaakso and South Häme districts in Finland. In the former, this was 1/1,040 among 182,000 inhabitants, whereas in 1860 in the parish Valkeala the prevalence was calculated at 1/155. Today the true prevalence probably lies between these figures.
Autosomal monosomy (45, XX, C—) in a humanembryo with total amelia and further malformations
Authors: Pawlowitzki I. H. , Cenani A. , Frischbier H. J. 
Published: July 2010

A considerably malformed, spontaneously aborted human embryo with an autosomal monosomy is described.Morphological findings: the 17 mm conceptus showed extreme developmental retardation, total amelia, extreme microcephalia, hypoplasia of the umbilical cord and malformations of the heart and the abdomen.Cytogenetic findings suggested an autosomal monosomy of a C‐group chromosome.
Hereditary angioedema: Report of a large kindred with a rare genetic variant of C1‐esterase inhibitor
Authors: March M. De , Jacot‐Guillarmod H. , Ressa T. G. , Carbonara A. O. 
Published: July 2010

The hereditary angioedema syndrome (HAE) is attributed to deficiency of an a2‐glycoprotein which inhibits the activated first component of complement (Cl). This protein is also called C1 esterase inhibitor (C? INH). The disease seems to be transmitted as an autosomal dominant trait. Two variants of the disease have been described: both have a low level of C? INH activity, but in one of them a non‐functional C? INH can be detected in the serum.The family reported belongs to this last type. All affected members had the typical abnormalities of the complement system, namely a low level of active C? INH and a decreased amount of C4 and of total hemolytic complement. The presence of non‐functional C? INH was revealed by an immunochemical assay.The antigenic determinants of the inactive protein we have studied do not differ from those of the normal one. However, the electrophoretic mobilmities of the two proteins were slightly different inasmuch as the pathological protein migrated more slowly. This protein may be a new variant of C̄ INH.
Antenatal diagnosis of argininosuccinic aciduria
Authors: Goodman S. I. , Mace J. W. , Turner B. , Garrett W. J. 
Published: July 2010

Argininosuccinic aciduria (ASAuria) is an inherited disorder of ureogensis characterized by periodic hyperammonemia, seizures, and mental retardation. Transabdominal amniocentesis was performed at 16 weeks' gestation on a 31‐year‐old female whose one previous child had this disease. ASA concentration in the amniotic fluid was 0.073 μmoles/ml (normal = 0). Cultured amniotic cells incubated with L‐citrulline‐ureido‐11C accumulated ASA‐14C as did cultured fibroblasts of patients with ASAuria; normal cells (including those from subjects heterozygous for argininosuc‐cinasc deficiency) do not accumulate this metabolic intermediate.Pregnancy was terminated at 22 weeks by hysterotomy. Fetal liver ASase was 3–5 percent of normal, and liver ASA concentration was 9.36 μmoles/g wet wt. (normal = 0), confirming the prediction of an affected fetus. Fetal cord serum ASA and citrulline concentrations were 0.098 and 0.071 μmoles/ml, respectively; simultaneous maternal concentrations were 0 and 0.014. Maternal urine ASA concentrations during pregnancy were 0.15.5 and 0.166 μmoles/mg crmtinine; 10 weeks after tcrmination, ASA was present in only trace amounts.Current emphasis is on development of techniques to minimize the delay between amniocentesis and intrauterine diagnosis. It is possible that this and some other no‐threshold aminoacidurias may be diagnosed on the basis of amniotic fluid amino acids alone.
Partial trisomy 21
Authors: Aula P. , Leisti J. , von Koskull H. 
Published: July 2010

Five patients showing several stigmata of Down's syndrome and a partial trisomy of chromosome 21 are reported. Three patients with only a moderate degree of mental retardation had an additional deleted chromosome 21; the characteristic dark G‐band region of the long arm of 21 was missing. In another patient with a typical Down's syndrome the G‐band region and the distal portion of the long arm of 21 were present in excess and were translocated onto the short arm of 15. Clinical features suggestive of Down's syndrome were also seen in a mildly retarded girl with a mosaic chromosome constitution (one cell line had an isochromosome for the long arm of chromosome 21 and the other had a deletion of the short arm of chromosome 21).By correlating clinical and cytogenetic data on these patients, an attempt was made to analyse the phenotypic effects caused by the presence of excess amounts of different segments of chromosome 21.
A comparative study of different electrophoretic techniques for classification of hereditary hyperlipoproteinaemias
Authors: Heiberg Arvid 
Published: July 2010

The results of a comparative study of different electrophoretic techniques for phenotyping of human serum lipoproteins are reported. Electrophoresis in agarose gel was found to be preferable to electrophoresis on paper or cellulose acetate membranes.Conditions giving reproducible results, also upon quantification of the lipoprotein zones by scanning of the electrophoretograms, were defined from methodological studies.
Congenital cornea plana in Finland
Authors: Eriksson A. W. , Lehmann W. , Forsius H. 
Published: July 2010

Two different hereditary forms of congenital cornea plana are described: an autosomal dominant form with relatively mild symptoms, and an autosomal recessive form (CPCR) with more severe symptoms, such as decreased visual acuity, extreme hyperopia (total refraction usually 10 D or more), hazy limbus corneae, more or less pronounced opacities in the corneal parenchyma, and marked arcus senilis, often detectable at an early age.As far as can be judged from the number of cases hitherto published, cornea plana is a rare disease. In Finland, 49 caw of the recessive and seven of the dominant form of cornea plana congenita have been discovered to date, which is about twice the number of cases of recessively inherited cornea plana reported elsewhere in the world. In Finnish Lapland, the gene frequency of cornea plana congenita recessiva is estimated to be 1.3 % (about 16 patients per 100,000 inhabitants), or about four times as high as in Finland as a whole. Around the lower reaches of the River Kemijoki there is a relatively high prevalence of the recessive form of the disease. The Kemijoki pedigree includes 25 patients related to each other through their ancestors.
Dermatoglyphics in Down's syndrome. I
Authors: Deckers J. F. M. , Oorthuys A. M. A. , Doesburg W. H. 
Published: July 2010

A group of Down's syndrome patients and a normal control population were studied in an attempt to determine which of several existing index scores based on dermal patterns could be most efficiently used as a diagnostic aid.The 183 mongoloid individuals were included in the study on clinical grounds and had 47 chromosomes with trisomy‐21,Relative frequencies of dermal patterns on palms, fingers and soles were determined and the discriminative efficiency of pattern areas was investigated.
Red cell polymorphisms in Down's syndrome. Gene frequencies and phenotype associations
Authors: Rundle A. T. , Sudell Barbara 
Published: July 2010

The phenotype frequencies of red cell phosphoglucomutase (PGT), acid phosphatase (ACP), adenylate kinase (AK), 6‐phosphogluconate dehydrogenase (PCD), adenosine deaminase (ADA), alanine aminotransferase (ALA), isocitric dehydrogenase (ICD) and glucose‐phosphate dehydrogenase (G‐6‐PD) and the ABO blood groups were investigated in a group of 256 subjects with Down's syndrome and 409 subjects with mental retardation but without chromosomal defects. The estimates and standard errors of the gene frequencies, deviations from the Hardy‐Weinberg law and between‐group comparisons by Haldane's log ratio test were determined.G‐tests were carried out between all systems to detect any phenotype association, and gene‐counting and subsequent G‐tests were performed to investigate possible gene associations. During these association tests, data presented elsewhere on haptoglobin (Hp) and group specific proteins (Gc) were included.No inter‐group differences could be detected, but positive associations between PGT and ACP were found in the Down's group and for Hp vs. ADA and Hp vs. ACP in the control group.A sex difference was found in the PGT phenotypes in the Down's subjects, principally in the age range 0–18 years, and an excess of type B in the ABO groups of the Down's subjects was observed.Three examples of rare variants were observed in the Down's subjects, one example of the PGT2 type 3:1, one subject with a G‐GPD type A and one subject with a variant PGI) phenotype not reported previously.