bluuebunny/crossref_metadata_2025_split huggingface dataset:
Autosomal recessive inheritance of metaphyseal dysplasia
Authors: Raad M. S. , Beighton P. 
Published: July 2010

Two young adults with Pyle disease have been investigated in a large Afrikaner kindred in South Africa. Consanguinity was present in the family, and it is likely that the condition was inherited as an autosomal recessive. This contention is supported by the radiographic demonstration of minor degrees of widening of the distal femora in obligatory and potentially heterozygous relatives.Apart from genu valgus of moderate degree, the patients enjoyed good health and their gross radiographic skeletal abnormalities contrasted with the innocuous clinical presentation. Differentiation of Pyle disease from the autosomal dominant and autosomal recessive forms of cranio‐metaphyseal dysplasia is of prognostic importance in view of the potentially serious complications in these latter disorders.
Down syndrome in two of three triplets
Authors: Liberfarb Ruth M. , Atkins Leonard , Holmes Lewis B. 
Published: July 2010

This is the first report to our knowledge of trisomy 21 in two members of a set of triplets. The two with Down syndrome are monozygous; the other triplet is not identical.These triplets were born to a 22‐year‐old woman in whose family there have been six sets of twins (four like‐sex) since 1775. Neither parent has any chromosomal abnormality. Zygosity estimates in the triplets are derived from studies of red blood cell antigens and HLA typing.Twinning has been reported in association with many different chromosome abnormalities. It has been suggested that the incidence of Down syndrome among twins is significantly higher than among singletons. It seems likely that some families have a heritable predisposition to both twinning and chromosome abnormalities.
Spontaneous abortion, sex ratio and facial cleft malformations
Authors: Bear J. C. 
Published: July 2010

In family and reproductive data combined from five treatment centers, relating to 861 index cases with cleft lip (with or without cleft palate, CL±P), maternally recognized spontaneous abortions were found to be significantly less frequent in sibships including two or more cases of CL±P than in sibships including only one case.In data relating to 379 index cases with cleft palate (CP), maternally recognized spontaneous abortions were reduced to a degree short of formal significance in sibships including two or more cases of CP by comparison with sibships including only one case of CP.The sex ratio among the sibs of parents of CL±P index cases was elevated when the index case was the only affected child and reduced when the index case had one or more affected sibs.Considered in combination with the results of other investigations, these findings indicate the existence of inherited factors reducing abortion frequency in the sibships of CL±P index cases. These factors appear to be unrelated to those for liability to CL±P.
An unusual form of galactosemia: Studies on erythrocytes and hair roots
Authors: de Bruyn C. H. M. M. , Oei T. L. , Monnens L. A. H. , Trijbels J. M. F. 
Published: July 2010

An unusual form of galactosemia is described in a 7‐month‐old boy, characterized by a late onset of the clinical symptoms. A high apparent residual activity of erythrocyte galactose‐1‐phosphate uridyl transferase (GT) was measured with the spectrophotometric UDP‐Glucose consumption test (±25% of normal). The residual activity in erythrocyte lysates, determined when the patient was 7, 16 and 22 months old, significantly decreased upon storage and after preincubation with NAD‐ase. The radiochemical measurement of GT activity demonstrated a severe deficiency: only a level of ± 1% of normal activity was observed, and no effects of storage or NAD‐ase could be demonstrated.GT and galactokinase (GK) activities were measured radiochemically in lysates from hair roots obtained from the human scalp, and it was found that the GT/GK activity ratio is a useful index for the detection of heterozygotes. Erythrocyte and hair root lysates from the heterozygous parents of the patient displayed GT/GK ratios which were intermediate between mutant and normal. Because they offer a simple and fast way to obtain biopsy material, hair roots might become of increasing importance for carrier detection studies.
A cytogenetic survey of an institution for the mentally retarded: I. Chromosome abnormalities
Authors: Jacobs Patricia A. , Matsuura Janice S. , Mayer Martha , Newlands Irene M. 
Published: July 2010

A cytogenetic survey of 475 patients in an institution for the mentally retarded is reported. The chromosomes of all patients were studied using both a non‐banding and a G‐banding technique in order to estimate the relative efficiency of the two techniques in detecting structural rearrangements of the chromosomes.A total of 57 patients was found to have a chromosome abnormality, including five with a balanced structural rearrangement. The contribution of chromosome aberrations to the etiology of mental retardation is discussed with special emphasis on the contribution of balanced structural rearrangements.
Glutaric aciduria in progressive choreo‐athetosis
Authors: Brandt N. J. , Brandt S. , Christensen E. , Gregersen N. , Rasmussen K. 
Published: July 2010

The clinical symptoms in a 10‐year‐old girl with progressive dystonic cerebral palsy are described. The biochemical findings were dominated by large amounts of glutaric acid in the urine. The disorder is caused by impairment of the degradation of glutaryl‐CoA.A survey is given of the clinical and biochemical symptoms, based on the five cases reported so far. It is concluded that patients with progressive dystonic palsy should be examined for disorders in the metabolism of organic acids.
Central nervous system abnormalities ‐ contrasting patterns in early and late pregnancy
Authors: Bell Jeanne E. , Gosden Christine M. 
Published: July 2010

A total of 509 specimens of spontaneous abortion were studied. Of 364 complete specimens, 15(4.1%) had central nervous system (CNS) abnormalities. The defects which were seen were anencephaly, spina bifida, iniencephaly, encephalocele and anencephaly combined with complete rachischisis. A high proportion (five out of 15) had the more unusual defects of iniencephaly and encephalocele. All except one had ceased development at less than 12 weeks of gestation. Sex chromatin studies showed that males outnumbered females among CNS defective fetuses. When the month of conception was calculated for these abnormal pregnancies, summer and winter peaks were detected. Only one of the 15 patients had a family history of neural tube defect (NTD).Histological examination of all small fetuses aborted spontaneously revealed two additional facts. First, in fetuses with a localised external CNS defect, the internal abnormality was more extensive. Second, the CNS was also abnormal in some fetuses with no visible external defect.The proportion of abnormality is much higher than at birth and is also higher than in other surveys of spontaneous abortion.We suggest that screening for serum alphafetoprotein should be undertaken and amniocentesis considered in pregnancies subsequent to an abortion of this type.
Testicular testosterone biosynthesis in male Saanen goats with XX sex chromosomes
Authors: Sulimovici S. , Weissenberg R. , Lunenfeld B. , Padeh B. , Soller M. 
Published: July 2010

Testosterone biosynthesis was examined in three pairs of twin male Saanen goats. In each pair, one goat was a phenotypically normal male of XY chromosome constitution; the other showed testicular hypoplasia of the sort typically associated with homozygosity for the dominant gene for polledness in genetic females, and was of XX chromosome constitution.The histological and hormonal situations in the hypoplastic male goats resembled those found in Kleinfelter and XX human males, both in their nature and in their variability. Histological examination of the testes of the hypoplastic XX males showed various degrees of degeneration. In one case a “sperm pocket” full of spermatozoa was observed, and in this case sperm cells with heads separated from tails were observed in the semen. In the other two cases semen was devoid of sperm cells. In two cases plasma testosterone levels of the hypoplastic goats were lower than those of their normal counterparts, in one of the cases much lower. When testicular microsomal fractions of these goats were tested for their in vitro ability to bring about the conversion of androstenedione to testosterone, it was observed that 17β‐hydroxysteroid dehydrogenase activity was either absent or lower in the hypoplastic goats than in their normal twins. In the third pair of animals, plasma testosterone levels were similar in both normal and hypoplastic animals. In this case, however, the increase in testosterone levels following HCG administration was lower in the hypoplastic than in the normal goats. 3β‐hydroxysteroid dehydrogenase was the same in normal and hypoplastic goats. The variable effects on testosterone biosynthesis support the notion that the sex chromosomes, while affecting steroid biosynthesis in the testis, do so indirectly.
Familial syndrome of progressive cone dystrophy, degenerative liver disease and endocrine dysfunction
Authors: Larsen I. Frøyshov , Hansen E. , Berg K. 
Published: July 2010

Six females from two sibships in a family with a high degree of consanguinity and a male from another family are described: all have a new syndrome of total color blindness (progressive cone dystrophy), liver degeneration and endocrine dysfunction.The patients showed endocrine defects at different levels of regulation. None of the patients had children; two were probably infertile and three had had repeated abortions. Two patients had primary hypothyroidism and another two had low normal thyroid function with protracted thyrotropin‐releasing hormone (TRH) test response, indicating a hypothalamic disorder. A defect in the ACTH reserve, as tested by Metyraponer̀, was found in two patients. Diabetes mellitus of the “maturity‐onset type diabetes of the young” was observed in three patients, and a fourth had a borderline glucose tolerance with further impairment during pregnancy. Hypertension was observed in the diabetic patients. Diabetes was seldom present among the relatives, but hypertension occurred frequently.Four of the patients had liver degeneration, demonstrated by elevated transaminases and unspecific parenchymal degeneration, fatty infiltration and isolated liver cell necrosis in the biopsy.All the patients, except the youngest, had progressive hearing loss, classified in four cases as neurogenous and probably cochlear. In the boy, the hearing loss was a neurogenous congenital hypacusis. There were several cases of hearing defects among the relatives, so it is difficult to relate this to the syndrome.Enlarged sella turcica were found in three, and in one of these an “empty sella” was demonstrated by surgery.Elevated creatine phosphokinase was also observed. All the different lesions suggest a systemic disorder, possibly a membrane defect.
Familial syndrome of progressive cone dystrophy, degenerative liver disease, and endocrine dysfunction
Authors: Berg Kark , Larsen Ingegerd Frøyshov , Hansen Egill 
Published: July 2010

A syndrome of progressive cone dystrophy, endocrine dysfunctions and degenerative liver disease has been observed in seven patients, six of whom belonged to one extensive kindred. Genetic analyses revealed a segregation ratio indicating autosomal recessive inheritance of the syndrome, and the kindred from which six of the seven patients originated was heavily inbred. Thus, the results of the segregation analyses as well as of the inbreeding analyses provide evidence that this previously unrecognized disorder is inherited as an autosomal recessive trait.Genetic marker analyses were conducted with respect to 22 marker systems, and linkage information was obtained with respect to 15 of them. No strong suggestion of linkage emerged from the analyses, but very close linkage could be excluded for several of the genetic marker systems.Pedigree analysis was helpful in establishing the spectrum of clinical manifestations belonging to the syndrome proper. The data presently available suggest that elevated levels of creatine phosphokinase, which were found in all patients, may be useful in tracing heterozygotes for this disorder. This possibility will be further examined.
Cystic fibrosis liver sialyltransferase
Authors: Alhadeff Jack A. , Cimino George 
Published: July 2010

The activity of sialyltransferase with regard to the glycoprotein substrates asialofetuin and asialo‐ovine submaxillary mucin was determined in normal, pathological control, and cystic fibrosis liver homogenates. Cystic fibrosis and pathological livers have about 40% of the average normal specific activity for sialyltransferase.Several properties of cystic fibrosis sialyltransferase were investigated and compared to those of the normal liver enzyme (Alhadeff et al. 1977). The pH optima curves were similar, but cystic fibrosis sialyltransferase appears to be more thermolabile than the normal liver enzyme. Isoelectric focusing studies revealed that the three most basic forms of sialyltransferase which are found in normal livers are deficient or absent in most cystic fibrosis livers.The data suggest that altered glycoprotein‐sialyltransferases may be present in cystic fibrosis livers, probably a secondary effect due to general liver pathology.
Double pre‐ß lipoprotein in ischaemic heart disease
Authors: Postle A. D. , Darmady J. M. , Siggers D. C. 
Published: July 2010

The presence or absence of a double pre‐[5 lipoprotein (pre‐β1 or pre‐β) peak on agarose gel electrophoresis was recorded in:

77 survivors of myocardial infarction,
their first‐degree relatives, and
148 controls.

Thirty‐nine percent of myocardial infarction survivors and 24 % of controls had pre‐β+ (P < 0.05). The segregation of pre‐β1+ in the families of myocardial infarction survivors was consistent with autosomal dominant inheritance. In the control group, fasting serum cholesterol and triglyceride values were higher in the pre β1+ subjects, but the differences were not significant.We conclude that the presence of a double pre‐β lipoprotein peak on electrophoresis is associated with an increased risk of myocardial infarction.
Satellite DNA loss and nucleolar organiser activity in an individual with a de novo chromosome 13,14 translocation
Authors: Gosden J. R. , Gosden C. M. , Lawrie S. S. , Buckton K. E. 
Published: July 2010

The distribution of satellite DNA and nucleolar organiser activity have been studied in a female with a new dicentric translocation chromosome derived from the maternal chromosomes 13 and 14. More than half the satellite DNA (60.5 %) was lost in the translocation, together with both the nucleolar organiser regions (NORs). However, at least one NOR (chromosome 21) which was inactive in the mother (by the Agl reaction) is active in the subject, and this may be an example of functional compensation.The somatic cells of the mother of the subject, which do not have the translocation, show a high frequency of acrocentric associations, but these do not include any obvious excess of associations involving chromosomes 13 and 14, indicating that the high frequency of association in somatic cells is not in itself a predisposition to Robertsonian translocation in germ line cells. The father's chromosomes 9 both have more satellite DNA in the secondary constriction than normal, but this is not reflected in any obviously larger size of the C‐band in this region.
Hallervorden‐Spatz disease
Authors: Elejalde B. Rafael , Elejalde MariaMercedesJ. de , Lopez Federico 
Published: July 2010

We had the opportunity to study a family, five of whose members were affected by the Hallervorden‐Spatz disease (three males and twin girls). The characteristics of the condition were analyzed and compared with those cases considered by other authors to be affected by the condition. Intrafamilial and interfamilial variations were analysed, and it was the latter that contributed most to the overall variation of the condition. It was clearly established from the reported cases and our family that this is an autosomal recessive condition (P> 0.23 ± 0.08). It is suggested that the condition probably originated in Europe and that it is caused by an inborn error of metabolism related to neuromelanin and the dopaminergic system.The condition affects the muscular tone and voluntary movements progressively, making voluntary coordinated movements, and chewing and swallowing almost impossible, and in the last part of its development mental deterioration, emaciation, severe feeding difficulties and visual impairment are common clinical manifestations. The ages of both onset and death are distributed in a unimodal curve. The mean survival time after diagnosis was 11.18 ± 7.8 years.
Oculodento‐osseous dysplasia: heterogeneity or variable expression?
Authors: Brighton P. , Hamersma H. , Raad M. 
Published: July 2010

Oculodento‐osseous dysplasia (ODOD) has been recognised in three South African patients from two kindreds of Dutch descent. Their ocular, nasal, dental and digital stigmata resembled those of previously reported cases, but their cranial hyperostosis and mandibular overgrowth were of much greater degree. In addition, the two survivors had serious neurological complications consequent upon spinal cord compression at the base of the skull and calcification of the basal ganglia.Two of the patients were the product of marriages between a pair of brothers and a pair of sisters, who were themselves clinically normal. This situation is best explained by autosomal recessive inheritance. As ODOD is usually transmitted as an autosomal dominant, and in view of the unusual severity of the manifestations in our patients, it is possible that the condition is heterogeneous and that they had a distinct autosomal recessive form of the disorder. The presence of minimal stigmata in the mother and two prior generations of our third patient could be equally well interpreted as representing great variation in phenotypic expression of a single dominant gene or manifestation in a heterozygote for a recessive gene.
Linkage analysis using heterozygote detection in phenylketonuria
Authors: Paul Thomas D. , Brandt Ira K. , Elsas L. J. , Jackson Charles E. , Nance Carol S. , Nance Walter E. 
Published: July 2010

This linkage investigation was undertaken utilizing an improved method for phenylketonuria (PKU) heterozygote detection. This method is based on studies of semi‐fasting, noon‐time, blood specimens obtained from 85 obligate heterozygotes and 45 controls who were neither pregnant nor on birth control medication. The best separation between heterozygotes and normals was achieved with a discriminant function involving the logarithms of the serum concentrations of phenylalanine, tyrosine and tryptophan. The theoretical overlap area between the distributions of heterozygotes and controls, based on the above function, was 3.75 %. In 19 obligate heterozygotes and 13 controls who were either pregnant or on birth control medication, the best separation was achieved with a discriminant function involving the logarithms of the serum concentrations of phenylalanine and tyrosine. The theoretical overlap area was 8.23 %. These equations identified heterozygotes with sufficient accuracy to permit efficient genetic linkage analysis.We were unable to demonstrate genetic linkage between the PKU locus and 15 common blood, serum, and urinary markers. All but loose linkage (θ > 0.3) was excluded for Rh, ABO, Gc, Kidd, and AP. Moderate linkage exclusion (θ < 0.2) was shown for PGM, Duffy, Hp, MNS, HL‐A, and Kell. Close linkage (θ < 0.1) was excluded for Amy2, 6PGD, P, and ADA. We were unable to find linkage heterogeneity between the Amish and non‐Amish populations.
Familial congenital diaphragmatic hernia: Prenatal diagnostic approach and analysis of twelve families
Authors: Crane James P. 
Published: July 2010

Congenital diaphragmatic hernia is generally recognized as a sporadic malformation with little or no risk of recurrence. A family with three affected individuals in two generations is presented. In addition, new prenatal diagnostic techniques including ultrasonography and amniography are discussed.A comparison of associated physical characteristics in isolated versus twelve familial cases of diaphragmatic hernia is presented. In the familial group, there was a higher incidence of affected males (M:F ratio = 2.1 versus 0.67), a higher incidence of bilateral defects (20 % versus 3 %) and a lower incidence of additional life‐threatening malformations (3.6 % versus 47 %). Analysis of available pedigree data favors multifactorial inheritance with a high male: female sex ratio as the most probable mode of transmission.
Uncultured cells in amniotic fluid from normal and abnormal foetuses
Authors: Papp Z. , Bell Jeanne E. 
Published: July 2010

Direct smears of uncultured amniotic fluid cells were analysed in 41 pregnancies between 17 and 22 weeks of gestation. These included 27 normal pregnancies where a healthy child was born at term, six anencephalic and five spina bifida pregnancies, and three other abnormal pregnancies. In normal amniotic fluid, epithelioid cells predominated but small numbers of histiocyte‐like cells, typical macrophages and elongated cells were also present. The proportion of macrophages and elongated cells was significantly increased in all anencephalic cases. Two of the spina bifida cases also showed abnormal cellular proportions. Haemosiderin and lipid material was demonstrated in some of the macrophages. Tissue smears and histological preparations suggest that these cells may originate from both the amnion and the fibrovascular membrane covering the neural lesion.This direct method of observation of amniotic fluid cells, not involving culture techniques, could provide a rapid means of prenatal diagnosis of anencephaly, and may help in the diagnosis of spina bifida.
Lp(a) phenotypes, other lipoprotein parameters, and a family history of coronary heart disease in middle‐aged males
Authors: Berg Kåre , Dahlén Gosta , Bórresen Anne‐Lise 
Published: July 2010

In a study of 95 presumably healthy, 4CM2‐year‐old males from Northern Sweden, the Lp(a) phenotype distribution differed between those who had, and those who did not have one or more close relatives (parent or sib) with coronary heart disease. In the former group, 60% of the males were Lp(a+), as opposed to 28 % in the latter group. Thus, in the homogeneous population sample studied, analysis of the normal, inherited Lp(a) variation permitted the identification of distinct subpopulations, with respect to familial occurrence of coronary heart disease. None of a series of other parameters distinguished such sub‐populations.The results reported are in agreement with our previous finding of a close association between phenotype Lp(a+) and risk of contracting coronary heart disease.