bluuebunny/crossref_metadata_2025_split huggingface dataset:
Further evidence for the existence of genetically determined metabolic differences between Lp(a+) and Lp(a‐) individuals
Authors: Dahlén G. , Berg K. 
Published: July 2010

Thirty, presumably healthy, middle‐aged males from Northern Sweden were studied in September 1973 and again in February 1975. Mean fasting cholesterol and triglyceride concentrations were significantly higher at the latter investigation than they were at the former in the total group and in the Lp(a+) group, but not among those who were Lp(a‐). Furthermore, estimation of free thyroxine factor yielded significantly higher results in the Lp(a‐) than in the Lp(a+) group.In a previous paper, we reported significant differences between Lp(a+) and Lp(a‐) individuals with respect to the relationships between insulin level and blood glucose concentration, and between insulin level and fasting triglyceride concentration. The combined results of the present and previous studies suggest that inherited metabolic differences exist between Lp(a+) and Lp(a‐) individuals. In view of the association which has been found between the phenotype Lp(a+) and coronary heart disease it seems plausible that these differences may be of clinical importance.
Congenital generalized fibromatosis: an autosomal recessive condition?
Authors: Baird Patricia A. , Worth Ann J. 
Published: July 2010

Congenital generalized fibromatosis is a rare condition which is often misdiagnosed and given an erroneously poor prognosis. Five new cases are presented in this report, all initially having been diagnosed as neurofibromatosis. The histopathological findings are presented and the differential diagnosis is discussed.The natural history of the disorder appears to include an initial phase of proliferation soon after birth with appearance of new tumor masses. Providing these do not involve vital viscera, the patient survives with regression and eventual disappearance of all lesions. Spontaneous regression occurred in all five patients reported. Two sets of sibs occurred in the cases described. The possible genetic aspects of this are discussed and the pertinent literature reviewed.
Analbuminemia in an American Indian girl
Authors: Boman H. , Hermodson M. , Hammond C. A. , Motulsky A. G. 
Published: July 2010

Analbuminemia was fortuitously detected in a nonedematous 12‐year‐old American Indian girl with atopic dermatitis, mild bronchial asthma, a mild seizure disorder, and hyperlipoproteinemia with a corneal arcus. Immunologic methods revealed trace amounts (17 mg/100 ml) of apparently normal serum albumin. The patient's parents were remotely related. The pedigree and clinical findings were compatible with autosomal recessive transmission of analbuminemia. Heterozygotes had subnormal levels of serum albumin.The Gc‐locus is closely linked to the structural albumin locus. Gc‐protein levels were normal in the patient and together with normal chromosomal banding studies make it unlikely that a chromosomal deletion caused analbuminemia. Gc‐types in the family were compatible with, but did not prove, linkage of analbuminemia to the Gc‐locus. These findings suggest a “thalassemia”‐like mutation for this disorder.
Prenatal diagnosis of homozygous familial hypercholesterolemia: Investigation of a case at risk
Authors: Wienker Thomas F. , Utermann Gerd , Ropers Hans‐Hilger 
Published: July 2010

Cultivated amnion cells obtained from a pregnancy at risk for the homozygous form of familial hypercholesterolemia were analyzed, as were fibroblasts from normal, heterozygous and homozygous controls. Three different methods were employed in order to compare their diagnostic value:

Acetate incorporation into the cellular 3β1‐OH‐sterol fraction;
LDL‐binding to the cell surface receptor; and
Oleate incorporation into the cholesterylester pool of the cells after addition of LDL to lipoprotein‐deficient growth medium.

The best discrimination between normal, heterozygous and homozygous cells was achieved using the third technique. On the basis of the acetate incorporation analysis, we concluded that the child is not homozygous, but probably completely unaffected. This diagnosis was confirmed by repeated determinations of plasma cholesterol levels during the first 11 months of life.Our investigations further substantiate the speculation that prenatal diagnosis of this disorder is possible.
Estimates of the heritability of serum lipoprotein and lipid concentrations
Authors: Weinberg Roger , Avet Linda M. , Gardner Martin J. 
Published: July 2010

Heritability (h2) of a serum lipid or a serum lipoprotein concentration is the proportion of variability in that concentration, among individuals, which is associated with heredity.We derive a familiar formula for estimating heritability (h2) from a simple linear model for inheritance. The formula was implied by Fisher (1918) and by Wright (1921); it was derived from a consideration of variances by Jensen (1967), and from a consideration of path coefficients by Rao et al. (1974). The estimate of heritability (?2) is?2= 2(rMZ ‐ rDZ)for twin studies, where rmz and rDZ are the sample intraclass correlation coefficients among monozygous and dizygous twins, respectively. We calculate ?2 for some published twin data (Heiberg 1974) on serum lipoprotein and serum lipid concentrations.
Chromosome survey of new patients admitted to the four maximum security hospitals in the United Kingdom
Authors: Price W. H. , Brunton Muriel , Buckton Karin , Jacobs Patricia A. 
Published: July 2010

In a survey of male patients admitted to the four maximum security hospitals in the United Kingdom during 1972 and 1973, 26 out of 611 (4.26 %) karyotyped were found to have chromosome abnormalities. Of these, 13 (2.13 %) had a 47,XYY abnormality; 5 (0.8 %) were chromatin positive but two of these had cell lines that included an extra Y chromosome, one being a 48,XXYY male and the other a mosaic 48,XXYY/47,XYY. Eight patients with autosomal abnormalities included two with Down's syndrome and a 47,XY,+21 karyotype, two with small supernumerary chromosomes, 47,XY + mar, and two with inherited balanced translocation.As in the prevalence studies of patients in these high security hospitals, the significant finding was the very high frequency of males with extra Y chromosomes. In this survey, it was most marked in the younger patients and particularly in those who were aged 20 years or less (approximately 6 %). As a group the XYY males were therefore significantly younger than all other male admissions. As in previous surveys they were also significantly taller and 60 % were 185 cm or more in height. There were no other distinguishing physical characteristics associated with the 47,XYY karyotype. In all but two patients the behaviour disturbances were attributable to psychopathic disorders and mental subnor‐mality was diagnosed no more frequently than in the total population studied (approximately 50 %).
Dermatoglyphics in mosaic Down's syndrome
Authors: Priest J. H. , Tishler P. V. , Rosner B. 
Published: July 2010

To determine whether quantitative dermal indices are useful in ascertaining the liability for or severity of mosaic Down's syndrome (DS), dermatoglyphics of 107 subjects with proven 46/47,+ 21 DS were scored by four quantitative dermal indices. The distribution of mosaics by weighted mean percentage of +21 cells ranged from 1 to 95 and was bimodal. Mean maternal age at birth of mosaics (32.9 ± 7.5 years) was elevated when compared with control maternal ages in the literature.The distribution of quantitative dermal indices for the total mosaic population fell roughly midway between those in the literature for normal and full DS individuals: 73 % of mosaics were classified as definitively DS, 21 % were in the intermediate range, and 6 % were normal. For mosaics who were minimally affected, 24 % were DS, 53 % intermediate, and 23 % normal. One can conclude: (1) For any suspect mosaic, a dermal score in the DS range is highly suggestive of karyotypic pathology. (2) The high prevalence of intermediate scores in normal subjects severely restricts their diagnostic value in screening for mosaics in the general population. For a selected population, such as parents of + 21 children, the screening value of quantitative dermal indices remains an open question.Weighted regression analyses demonstrate a highly significant correlation (P< 0.001) of dermal index score with the weighted mean proportion of +21 cells transformed to the logit scale. One may exploit this correlation to predict the ratio of +21/normal cells in infants, in whom early karyotype evolution can preclude an estimate of the ultimate syndrome based on initial degree of mosaicism. Furthermore, this correlation provides additional indirect evidence that dermal microsymptoms in DS are a reflection of the presence of +21 cells.
Partial trisomy 5 with a carrier parent t(5p‐;9p+)
Authors: Monteleone P. , Monteleone J. , Sekhon G. , Hamilton W. , Volk S. L. R. , Grzegocki J. , Tietens M. 
Published: July 2010

The significance of partial trisomies of the B group is as yet unknown. An infant with multiple congenital anomalies was found to have a partial trisomy 5pf syndrome. The father of this patient demonstrated a 5/9 translocation carrier state.A discussion of the relationship of the partial 5p+ syndrome to the Cri du chat syndrome is noted. Partial trisomy 5 would not appear, as yet, to represent a clearly definable syndrome.
Down syndrome and maternal age in Japan, 1950–1973
Authors: Kuroki Yoshikazu , Yamamoto Yoshifumi , Matsui Ichiro , Kurita Takehiko 
Published: July 2010

The mean maternal age and the percentage age distribution of 2,650 mothers of children with Down syndrome were calculated for 1950–1973, from hospital records. Mean maternal age has dropped both for controls (28.55→27.37) and Down syndrome (31.26→29.59). The observed maternal age distributions were very similar to those expected in corresponding periods, from the age specific incidences of Collmann & Stoller (1962).It is conceivable that the fall in maternal age in Down syndrome in recent years has resulted from the general trend to decreasing maternal age. There has been no change in the age‐specific incidences of Down syndrome. The incidence of Down syndrome seems to be falling in Japan.
A diagnostic index for Down syndrome
Authors: Preus M. 
Published: July 2010

A simple and effective index for the diagnosis of Down syndrome is presented. It makes use of 12 characters with from two to nine states. The simple format allows persons with limited knowledge of the characters to use it. Simplicity was attained by combining character states when this did not result in a loss of discrimination and by avoiding characters that were redundant, subjective or difficult to evaluate. A combination of characters that occur frequently in Down syndrome (wide applicability) and characters that have a high relative frequency (high probability) was used. Additional data from comparable samples were used to calculate more representative scores for some characters.Over 82% of suspected cases may be diagnosed as having or not having Down syndrome with 99.9% confidence. Conditional probabilities for the various scores are provided. Individuals whose scores are in the Down or non‐Down zones have a 98.7% probability or greater of having or not having the syndrome, respectively.The index is more effective than others as measured both by the percentage of individuals with and without Down syndrome whose scores fall into distinct zones (overlap method) and by the percentage with Down syndrome who have positive scores and controls who have negative scores (single point classification).
An autosomal dominant midline cleft syndrome resembling familial holoprosencephaly
Authors: Martin Alice O. , Perrin Jane C. S. , Muir W. A. , Ruch E. , Schafer Irwin A. 
Published: July 2010

We have detected a previously unrecognized autosomal dominant syndrome characterized by: mental retardation, microcephaly; craniofacial anomalies including cleft lip and anterior cleft palate, hypotelorism and antimongoloid slant; skeletal anomalies, notably of the foot and spine; and chronic constipation. Despite similarities to familial holoprosencephaly, this disorder appears to be a distinct entity.Incomplete penetrance and variable expressivity accompany transmission of the abnormal allele through four generations of a large kindred. Three of the four affected males survived past 20 years of age; the fourth is an infant. All three affected females died very early in infancy.
Distribution patterns of satellite associations in human lymphocytes relative to age and sex
Authors: Liem S. L. , Denton T. E. , Cheng K. M. 
Published: July 2010

Using ammoniacal silver for differential staining of satellites, associations from 1,668 human metaphases were studied from lymphocyte cultures of 167 normal individuals and were correlated with age and sex. There is a peak in satellite association frequency up to age 20 years in males and to 25 in females. With older ages there is a decline in association frequencies. No associations with four or more chromosomes were found in newborns. Furthermore, association in newborns, as well as in individuals older than 50 years, are significantly low compared to in‐between age groups.Females have a higher frequency of satellite associations than males between the ages of 3 and 50 years. Typically, females have greater multiple associations, while males have more single associations. Randomness or non‐randomness of occurrence of associations fluctuates for different age groups within and between the two sexes.
Studies on the metabolic defect in Broad‐ß disease (hyperlipoproteinaemia type III)
Authors: Utermann G. , Canzler H. , Hees M. , Jaeschke M. , Mühlfellner G. , Schoenborn W. , Vogelberg K. H. 
Published: July 2010

The apoprotein composition of the main lipoprotein fractions (VLDL, LDL‐1, LDL‐2 and HDL) was studied initially in 15 patients with Broad‐β disease. Analytical isoelectric focusing of urea‐soluble apo‐VLDL and apo LDL‐1 demonstrated a variant pattern of the polymorphic Apoprotein E with a deficient Apo E‐III band in all patients.The Apo E‐III deficiency pattern was seen in only six out of 304 hyperlipidaemic controls. These six Apo E‐III deficient controls had characteristic signs of Broad+ disease, and thus represented patients not previously recognized as having the disorder.The Apo E focusing patterns were constant on repeated examinations and were stable under different metabolic conditions. The data show that Apo E‐III deficiency in VLDL is a specific qualitative marker for Broad‐β disease, allowing an unequivocal diagnosis that had not been possible previously. Indirect evidence suggests that Apo E‐III deficiency is the basic lipoprotein abnormality underlying the familial dyslipoproteinaemia.
On the classification of the acrocephalosyndactyly syndromes
Authors: Escobar Victor , Bixler David 
Published: July 2010

This report describes a family in which two different types of acrocephalosyndactyly (ACS) were clinically identified. The proband presented with the classic stigmata of Pfeiffer syndrome, while her cousin was considered to be a typical case of Apert syndrome. Seven other family members also have unusually shaped heads and the facial appearance reminiscent of Crouzon disease.Observations made in this family and from previous reports in the literature, we feel there is substantial reason to re‐evaluate the ACS classification and to consider that the Apert and Pfeiffer types of ACS may be one and the same.
Trisomy 8 syndrome
Authors: Theilgaard Alice , Lundsteen Cales , Parving Hans‐Henrik , Philip John 
Published: July 2010

A 27‐year‐old, non‐retarded male with trisomy 8 mosaicism (46, XY/47, XY,+8) had a short head, a short broad‐bridged nose, a protruding upper lip, pterygium colli, moderate kypho‐scoliosis, camptodactyly of all fingers and deep furrowing on the soles. Radio‐graphic examination of columna showed spina bifida of L1 and fusion of L5 and S1. These findings are characteristic for the trisomy 8 syndrome.A psychological study showed a personality characterized by immaturity and lack of spontaneity and self‐confidence. An intelligence test (WAIS) placed him within the normal range, but presented an uneven development of the cognitive functions with special difficulties in synthetic abilities and visual scanning. His auditive span was rather low, and his memory functions were somewhat below average.
Short stature, craniofacial dysmorphism and dento‐skeletal abnormalities in a large kindred
Authors: Parloir C. , Fryns J. P. , Deroover J. , Lebas E. , Goffaux P. , Berghe H. van den 
Published: July 2010

A possibly new mental retardation syndrome is described in a large family. The major features of the syndrome are: short stature, craniofacial dysmorphism and dento‐skeletal abnormalities. The mode of inheritance of this syndrome appears to be autosomal dominant with a variable degree of expressivity.The possible similarity to another autosomally dominant inherited mental retardation syndrome, “the K.B.G. syndrome” as described by Hermann et al. (1975), is discussed.
Partial deletion of long arm of chromosome 11: del (11) (q23)
Authors: Kaffe Sara , Hsu Lillian Y. F. , Sachdev Ranjit K. , Philips Joseph , Hirschhorn Kurt 
Published: July 2010

The cytogenetic analysis of an infant with multiple congenital anomalies revealed a small deletion of the long arm of one No. 11 chromosome: 46, XX, del(11)(q23). The main clinical manifestations included: ocular colobomata, absent philtrum, severe congenital heart disease, contractures of the large joints and skin pigmentation.Both parents showed a normal chromosome constitution. In comparison to the previously reported cases of 11q —, the patient presented here had more severe congenital anomalies. The correlation of the size of the deletion, and the location of the break, with the physical findings is discussed.
Trisomy 4p: five new observations and overview
Authors: Dallapiccola B. , Mastroiacovo P. P. , Montali E. , Sommer Annemarie 
Published: July 2010

Five new cases of trisomy of the short arm of chromosome No. 4 are presented. In two brothers the abnormality arose from segregation of the 4p chromosome present in the mother who is a carrier of a centric fission of one No. 4 chromosome. In the other three patients, the chromosome imbalance originated from segregation of a balanced maternal 3p/4q or 4/22 translocation.The available data, derived from the 4p trisomics reported so far, are adequate to establish trisomy of the short arm of chromosome No. 4 as a definite clinical entity.The most outstanding findings include growth retardation of prenatal onset, severe mental deficiency, microcephaly and a peculiar constellation of facial dysmorphisms. The dermatoglyphic patterns and the radiological findings may help towards a correct interpretation of the syndrome.
Universal permanent alopecia, psychomotor epilepsy, pyorrhea and mental subnormality
Authors: Shokeir M. H. K. 
Published: July 2010

A syndrome of congenital and permanent universal alopecia, involving absence of scalp hair, eyebrows, eyelashes, axillary and pubic hair, and the rest of the body hair is reported. Mental subnormality was noted in eight and psychomotor epilepsy in seven out of 12 affected individuals. Pyorrhea was observed in all ascertained patients. No abnormality of nails or skin (apart from absence of hair) was noted.The disorder, which affected seven females and five males from six sibships, was transmitted through four generations. Utilizing the simple sib method, a ratio of 6/12 was obtained for affected individuals. The vertical transmission of the disorder, implication of both sexes, male to male transmission, and the 1:1 (affected: unaffected) segregation ratio support autosomal dominant inheritance. Penetrance appears to be complete.
Serum pancreatic isoamylases in the diagnosis of cystic fibrosis heterozygotes: A non‐valuable test
Authors: Schiøtz P. O. , Magid E. 
Published: July 2010

A group of 102 obligate heterozygotes for the cystic fibrosis gene were examined for genetic type of pancreatic isoamylases as well as enzyme activity of pancreatic isoamylases, salivary isoamylases and total amylase in serum. The analysis was performed using electrophoretic separation for detection of the various types of isoamylases, and their relative activity was determined by means of densitometry. The activities of salivary isoamylases and total amylase in serum showed no significant differences between the cystic fibrosis heterozygotes and a control group. The frequency of the variant gene for pancreatic isoamylase was also the same as in the controls. The mean value for pancreatic isoamylase was slightly higher in the cystic fibrosis heterozygotes than in the control group (0.05 >P> 0.02).There was no correlation between pancreatic isoamylase values and the three types of cystic fibrosis on the basis of metachromatic staining of cultured fibroblasts.
Linkage studies on the Marinesco‐Sjøgren syndrome and hypergonadotropic hypogonadism
Authors: Skre H. , Berg K. 
Published: July 2010

Marinesco‐Sjøigren syndrome and hypergonadotropic hypogonadism were observed in two kindreds, and they were found to occur together in 9 out of 10 affected individuals. The last patient had Marinesco‐Sjøigren syndrome without manifestations of hypogonadism, and similar findings were observed in two affected sisters from a third kindred.On the hypothesis that the concurrence of Marinesco‐Sjøigren syndrome and hypergonadotropic hypogonadism was caused by linkage, a lod score analysis was conducted. Four sibships in the two kindreds were informative with respect to linkage. At the recombination fraction 0.05, the lod score exceeded 3.If linkage causes the concurrence of Marinesco‐Sjøigren syndrome and hypergonadotropic hypogonadism in these kindreds, the linkage is close.No linkage was observed between the clinical syndromes and 17 marker systems.
Two XX males in one family and additional observations bearing on the etiology of XX males
Authors: de la Chapelle Albert , Schröder Jim , Murros Juhani , Tallqvist Gustav 
Published: July 2010

Two XX males who were second cousins are reported. A genetic mechanism producing maleness is suggested. The putative factor had been transmitted solely through males, which excludes the possibility of a heritable X‐Y interchange.Recent reports on fluorescent Y chromatin in Sertoli cells of XX males prompted investigations into the fluorescence patterns of testicular cells. Sertoli cells from three XX males displayed brightly fluorescent spots, but it was concluded that they did not represent Y chromosomes. Evidence for this conclusion was obtained from the study of testicular fluorescence in XX, XXY and XY males.No visually detectable cytogenetic evidence for an increase in length or altered banding pattern of one of the X chromosomes was found in three XX males.We conclude that an autosomal gene is the most likely explanation of the male differentiation in the two XX males presented here.
X‐linked skeletal dysplasia with mental retardation
Authors: Christian Joe C. , DeMyer W. , Franken E. A. , Huff J. S. , Khairi S. , Reed T. 
Published: July 2010

A syndrome compatible with an X‐linked trait is described, affecting four male cousins in three sibships. The boys had skeletal anomalies, including short stature, ridging of the metopic suture, fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia and short middle phalanges. In addition, they had moderate developmental retardation, and abducens palsies. Three of the four had glucose intolerance, and one was born with an imperforate anus.Of five female obligate carriers studied, three had fusion of cervical vertebrae, three had some shortening of the middle phalanges and three had glucose intolerance.The syndrome in this family was compared to previously reported syndromes, and the conclusion was reached that it represents a previously unreported X‐linked syndrome with minor manifestations in carrier females.