bluuebunny/crossref_metadata_2025 huggingface dataset:
Family analysis of Werner's syndrome: A survey of 42 Japanese families with a review of the literature
Authors: Goto Makoto , Tanimoto Kiyoaki , Horiuchi Yoshihiko , Sasazuki Takehiko
Published: July 2010

Forty‐two Japanese families, including 80 individuals with Werner's syndrome were studied, confirming that this syndrome is inherited as an autosomal recessive trait. The incidence of malignancy was relatively high in these families and individuals with Werner's syndrome, although the incidence was not so high as was reported previously. HLA typing revealed no significant linkage with Werner's syndrome. The frequency of Werner's syndrome in Japan was estimated using two methods which indicated approximately 300 cases among 100 million people.
Automatic chromosome analysis
Authors: Lundsteen Claes , Gerdes Tommy , Granum Erik , Philip John , Philip Kim
Published: July 2010

Human chromosomes, represented by band transition sequences, chromosome area, centromeric index by area and centromeric index by density, were karyotyped by computer. A reference set of chromosomes provided frequencies of occurrence of each density class and difference class of the band transition sequence as well as of each of the three global features. The karyotyping program was designed to handle all metaphases, even those from which severely bent and overlapped chromosomes were excluded. In one experiment, 21 metaphases were karyotyped on the basis of a reference set and the results were compared with earlier results of visual analysis of band transition profiles developed from band transition sequences: 0.8 % errors were made in the visual experiment and 1.4 % errors were made in the computer based experiment. In a second experiment, 179 metaphases were divided into reference and test sets and karyotyped by computer with an error rate of 3.4 %. By further analysis it was found that metaphases with many misclassified chromosomes could often be automatically distinguished from metaphases with few errors. Thus by automatic rejection of 7 % of the metaphases the error rate could be reduced to 2.6 %. The computer program for chromosome karyotyping will now be implemented in a semi‐automatic system for practical clinical chromosome analysis.
Familial X‐linked mental retardation and fragile X chromosomes in two Swedish families
Authors: Gustavson K.‐H. , Holmgren G. , Blomquist H. K:son , Mikkelsens M. , Nordenson I. , Poulsen H. , Tommerup N.
Published: July 2010

X‐linked mental retardation (MR) associated with a fragile X chromosome was found in two Swedish families. The fragile X chromosome was demonstrated in 5/5 boys with mental retardation. Clinical data on four of these boys are presented. In one of the families, the mental retardation was associated with macro‐orchidism, large hands and large, folded ears. In the other family, macro‐orchidism was not seen, possibly because the boys were younger. Fragile site X chromosomes were also seen in three obligate carriers. A summary of earlier published cases of X‐linked MR associated with the fragile X chromosome is given.
Muscular anomalies caused by delayed development in human aneuploidy
Authors: Aziz M. Ashraf
Published: July 2010

Comprehensive dissections of three infants with trisomy‐13 and three with trisomy‐18 have revealed several muscles which appear to be “abnormal” at the time of birth and shortly thereafter. Careful observations show that the peculiar morphology of these muscles results from delayed development rather than from anatomical malformation. The observations are compared with physiological, pathological and in vitro experimental studies of delayed embryonic development in human aneuploidy.
Athelia in a female infant heterozygous for anhidrotic ectodermal dysplasia
Authors: Burck Uta , Held Karsten R.
Published: July 2010

The case of a female infant with athelia is reported. Her mother, maternal aunt and grandmother show hypodontia, sparse hair and small breasts associated with mammillary hypoplasia. The clinical features and the results of MINOR'S sweat test suggest a heterozygous state of anhidrotic ectodermal dysplasia as the most likely explanation.
Monosomy 10qter due to a balanced familial translocation: t(10;16)(q25.2;q24)
Authors: Wegner Rolf‐Dieter , Kunze Jürgen , Paust Helmut
Published: July 2010

A third case of monosomy 10q is described. The infant was severely malformed and died at day 9 post partum. The clinical symptoms are compatible with the two previous cases.
α1‐Antitrypsin in patients with hepatocellular carcinoma and chronic active hepatitis
Authors: Fargion S. , Klasen E. C. , Lalatta F. , Sangalli G. , Tommasini M. , Fiorelli G.
Published: July 2010

Forty‐seven Italian patients suffering from hepatocellular carcinoma (HCC) and 58 patients with chronic active hepatitis (CAH) were screened for α‐antitrypsin (αAT) levels and types and compared with a previously screened healthy Italian population. Serum αAT concentrations were significantly raised among the HCC patients compared to the controls, whereas the CAH group showed no differences. The incidence of non‐M phenotypes (MS, MZ and S) is significantly higher in patients with HCC than in the CAH group and the controls. The mean age of HCC patients with a non‐M phenotype is significantly lower than the mean age of HCC patients with an M phenotype.
Genetics of the low density lipoprotein receptor:
Authors: Maartmann‐Moe Kjell , Magnus Per , Golden Wendy , Berg Kåre
Published: July 2010

Fibroblast association (plasma membrane binding plus intracellular accumulation) and degradation of radioiodinated low density lipoprotein (125I‐LDL) index plasma membrane LDL receptor activity. Cultured fibroblasts from 23 subjects affected with familial hypercholesterolemia (HC) and from 95 subjects without HC (non‐HCs) were tested for 125I‐LDL association and degradation. Both LDL receptor activity indices were twice as high in non‐HC and HC heterozygous cell strains. This is compatible with a major gene effect on LDL receptor activity. However, a considerable overlap between non‐HC and HC heterozygous values was found in the 125I‐LDL association assay [median (range) 970 (330–2500), and 450 (250–940), respectively] and in the degradation assay [median (range) 810 (280–2020), and 470 (160–790), respectively]. The values are expressed as ng 125I‐LDL mg cell protein‐14.5 h‐1.

These great overlaps in the LDL receptor activity indices support the view that the influence of LDL receptor activity on the HC phenotype may be smaller than believed previously. Furthermore, for the diagnosis of HC, these LDL receptor activity assays are far more expensive and have less sensitivity and specificity than simple serum cholesterol determination.

The LDL receptor‐dependent 125I‐LDL association values for the HC heterozygous individuals clustered into four groups. Family data supported the hypothesis that this variation could be due to four different LDL receptor variants, each coded for by different alleles at the LDL receptor locus. If confirmed, this finding may have implications for the understanding of the variable expression of HC and also of the genetic impact on lipoprotein metabolism and susceptibility to atherosclerosis in non‐HCs.
Calf hypertrophy and asymmetry in female carriers of X‐linked Duchenne muscular dystrophy: an over‐diagnosed clinical manifestation
Authors: Cavanagh N. P. C. , Pkeece M. A.
Published: July 2010

The height, weight and calf sizes of 19 carriers of X‐linked Duchenne muscular dystrophy were compared with 32 normal female controls of comparable age. Whereas the regression of the sum of right and left calf sizes on weight was highly significant in both groups, the difference between right and left calf size showed no significant association with weight, height or age. There was no significant difference between carriers and controls in the sum of calf sizes either before or after correction for weight by Analysis of Covariance and no significant difference between the two groups in the degree of asymmetry of right and left calf size.
Familial isolated growth hormone deficiency
Authors: Gelderen H. H. Van , Hoog C. E. VAN DER
Published: July 2010

A family is reported with isolated growth hormone deficiency in two children, their mother and, presumably, also in two maternal uncles and their maternal grandmother. Autosomal dominant inheritance is the best explanation. Isolated growth hormone deficiency is apparently a heterogeneous condition, including autosomal dominant, autosomal recessive as well as non‐genetic diseases.
Prenatal diagnosis of Fanconi anemia
Authors: Voss R. , Kohn G. , Shaham M. , BENZUR Z. , Arnon J. , Ornoy A. , Yaffe H. , Golbus M. , Auerbach A. D.
Published: July 2010

Prenatal diagnosis was performed on a fetus at risk for Fanconi anemia. A high spontaneous (0.30 breaks/cell) and diepoxybutane‐induced (0.69 breaks/cell) chromosome breakage rate indicated an affected fetus and the pregnancy was terminated. The anatomic findings in the aborted fetus together with cytogenetic findings in cultured fetal skin fibroblasts confirmed the prenatal diagnosis.
Familial fibromatosis
Authors: Young I. D. , Fortt R. W.
Published: July 2010

The cause of fibromatosis is unknown. A literature review provides strong evidence that genetic factors may play an important aetiological role. This report describes a family in which fibromatosis has been present in at least five individuals. It is proposed that this family provides further evidence for a hereditary predisposition to fibromatosis.
High resolution protein mapping in fibroblast cell lines and hair roots from patients with genetic disease*
Authors: WILLERS I. , SINGH S. , GOEDDE H. W. , KLOSE J.
Published: July 2010

Protein patterns of cultured fibroblasts and hair root lysates from healthy controls and patients with genetic diseases (Duchenne muscular dystrophy, Friedreich's ataxia, Marie's ataxia, Lesch‐Nyhan syndrome, maple syrup urine disease, and trisomy 13, 18 and 21) were obtained with two‐dimensional electrophoresis. The analysis of these patterns in 39 gels by visual comparison revealed differences in the presence and absence of 20 specific protein spots. However, this variability, which has been observed in healthy controls as well as in patients, could not provide a diagnosis for a specific genetic disease. Only in one case ‐ trisomy 18 ‐ was an additional spot observed, which was not present in any of the other gels.
Third case of a distinct variant of the Ehlers‐Danlos Syndrome (EDS)
Authors: Hernández A. , Aguirre‐Negrete M. G. , Liparoli J. C. , Cantú J. M.
Published: July 2010

A 16‐year‐old boy was diagnosed as having EDS. Analysis of this patient together with two previously reported cases supported a distinct variant of the EDS, probably caused by an autosomal dominant mutation.
Dominant inheritance of velopharyngeal incompetence
Authors: Andres Robert , Bixler David , Shanks James C. , Smith Wilbur L.
Published: July 2010

A family is described in which a girl, two boys and their father showed speech hypernasality. A half‐sib, a grandfather, a great‐aunt, and a cousin of these sibs also showed a similar speech defect. Analysis of recorded speech of the father and three sibs revealed articulation deficiencies in addition to hypernasality. Intra‐oral examination and neurologic evaluation of the cranial nerves failed to reveal any abnormality in palate morphology or cranial nerve function. Psychometric and audiometric studies of affecteds did not contribute to an explanation of the defect. Speech cinefluoroscopy and cephalometric radiographs confirmed that the speech defect involved velopharyngeal incompetence resulting from an anatomic disproportion of the velopharyngeal structures. The family pedigree supports the concept that this type of nasal speech, resulting from disproportion of velopharyngeal structures, is transmitted as an autosomal dominant trait.
Interstitial deletion of the short arm of chromosome 7 without craniosynostosis
Authors: Bianchi Diana W. , Cirillo‐Silengo Margherita , Luzzatti Luigi , Greenstein Robert M.
Published: July 2010

Two female infants with apparently identical interstitial deletions at bands p13 to p15 of chromosome 7 are presented. They differ in phenotype. The first infant has failure to thrive, retardation in development, normal head circumference with ridged metopic suture, blepharophimosis, epicanthal folds, mild hypotelorism, small low‐set ears, and a bifid right toe. The second infant has a normal weight, length, and head circumference, blepharophimosis, epicanthal folds, widely spaced nipples, enlarged clitoris, and very large hands and feet. The two patients' clinical and karyotypic findings are compared with previous reports of structural abnormalities of the short arm of chromosome 7. Of the three cases in the literature, craniosynostosis was present in the two patients with deletion of band 7p22, but was not present in the current reports or in another patient with deletion of band 7p14. Our observations, thus, suggest that deletion of bands 7p13 to 7p15, in contrast to more distal deletions at band 7p2, is not associated with craniosynostosis.
Nearwork and familial resemblances in ocular refraction: A population study in Newfoundland
Authors: Bear J. C. , Richler A. , Burke G.
Published: July 2010

There is considerable epidemiological evidence that the nearwork associated with formal education can cause myopia. The potential for nearwork and education, as aspects of common familial environment, to inflate resemblances among nuclear family members in ocular refraction, was therefore investigated in a sample of 957 persons aged 5 years and over, comprising approximately 80 % of the population above that age in three communities on the west coast of Newfoundland. Refraction was evaluated using standard optometric methods, nearwork measured in hours/day as reported by each subject, education measured as last completed school grade in years. The effects of nearwork and education on refraction resemblances were evaluated by adjusting refraction for age and sex, then comparing correlations or regressions among relatives before and after further linear regression adjustment of refraction for nearwork and education. Reductions in sib‐sib correlations and offspring‐parent regressions were achieved in this way, suggesting that these environmental factors inflate familial resemblances in refraction. Patterns of resemblances among relatives after adjustment suggest that the effects of nearwork and education on refraction resemblances were not completely removed by the linear regression adjustment used.
The G syndrome of dysphagia, ocular hypertelorism and hypospadias
Authors: Côté G. B. , Katsantoni A. , Papadakou‐Lagoyanni S. , Costalos C. , Timotheou T. , Skordalakis A. , Deligeorgis D. , Pantelakis S.
Published: July 2010

Two families with the G syndrome of dysphagia, ocular hypertelorism and male genital anomalies are described. One family had a lethal case with a laryngotracheo‐oesophageal cleft, while the other showed only a relatively mild expression of the syndrome in both sexes. This wide variability and the new findings are discussed, and the importance of an early diagnosis for the successful management of severe cases is emphasized.
Holt‐Oram syndrome: penetrance of the gene and lack of maternal effect
Authors: Gladstone Igor , Sybert Virginia P.
Published: July 2010

Holt‐Oram syndrome is an autosomal dominant disorder with variable expression. From a review of published pedigree data and of a family reported here, we have found that penetrance is 100 % if appropriate studies, including wrist radiographs, are performed. There does not appear to be a significant maternal effect on the severity of expression in affected offspring.
Brachydactyly with major involvement of proximal phalanges
Authors: Fujimoto Atsuko , Smolensky Louis S. , Wilson Miriam G.
Published: July 2010

Two children born to the same mother but two different fathers have brachydactyly in which the proximal phalanges of all the digits are shortened. The mother's hands are normal. The same condition occurring in two half‐siblings born to a non‐affected mother suggests that the brachydactyly may be inherited as an autosomal dominant disorder with reduced penetrance.
Recurrence of the VATER association within a sibship
Authors: Auchterlonie Ian A. , White Madeline P.
Published: July 2010

Two brothers with oesophageal atresia as part of the VATER association are described, the first such report of sibling recurrence with the VATER association.
Ring chromosome 15: Report of a case in an infertile man
Authors: Moreau Nicole , Teyssier Michelle
Published: July 2010

Analysis of the karyotype of a sterile 34‐year‐old man, with slight mental retardation and small stature, but without significant dysmorphism, showed the presence of a ring chromosome 15.
The effect of variant chromosomes on reproductive fitness in man
Authors: Carothers Andrew D. , Buckton Karin E. , Collyer Susan , Mey Rhona de , Frackiewicz Anna , Piper James , Smith Lynne
Published: July 2010

Reproductive fitness of carriers of heterochromatic variants of the human karyotype was found to be normal. The method was based on a comparison between known carriers and known non‐carriers from the same pedigree in respect of live births, generation time and survival of offspring to reproductive age. A subset of the data had been included in an earlier study in which reproductive fitness of carriers was found to be significantly reduced. Our analysis suggests that the result may have been fortuitous, since it was not supported by the additional data. There was no evidence of heterogeneity between carriers of different types of variant or of different sex. There were indications of increased fetal losses to carriers, but the number of spontaneous abortions was insufficient to produce a detectable effect on gross reproductive fitness.
Hereditary pyrophosphate arthropathy (familial articular chondrocalcinosis) in Sweden
Authors: Bjelle Anders , Nordström Stefan , Hagstam ÅSa
Published: July 2010

Genealogical links between three Swedish families with hereditary pyrophosphate arthropathy were found in the 18th century, indicating a possible founder effect, similar to earlier findings in Slovakia, France and Chile. However, no connection between the Swedish and other European families with the disease has so far been found. In accordance with other reported familial aggregations of pyrophosphate arthropathy, the transmission of the disease in the Swedish families appeared to be autosomal dominant with incomplete penetrance and variable expressivity. Severe symptoms related to homozygotic cases reported in some other families were not found in Sweden.
Familial reciprocal translocation, t(2;10)(p24;q26), resulting in duplication 2p and deletion 10q
Authors: Larson L. M. , Wasdahl W. A. , Saumur J. H. , Coleman M. L. , Hall J. G. , Dolan C. R. , Schutta C. J.
Published: July 2010

We describe a familial reciprocal translocation between the distal part of the short arm of chromosome 2 and the long arm of chromosome 10. Five individuals in two generations had multiple congenital anomalies. Their karyotypes were 46, XX or XY,−10, + der(10), t(2;10)(p24;q26). Seven persons were balanced translocation carriers whose karyotypes were 46, XX or XY, t(2;10)(p24;q26). Common manifestations included mental retardation, strabismus, narrow high‐arched palate, wide alveolar ridges, other facial abnormalities, genital abnormalities and mutism. The phenotype of the unbalanced individuals is compared to that of previously published cases of the syndrome of partial duplication 2p and to reported patients with partial deletion of 10q.
Degradation of keratan sulfate by ß‐N‐acetylhexosaminidases in GM2‐gangliosidosis
Authors: Yutaka Tohru , Okada Shintaro , Kato Tomochika , Yabuuhi Hyakuji
Published: July 2010

We have prepared a new substrate from a keratan sulfate‐derived‐oligosaccharide (2‐acetamido‐2‐deoxyglucosyl(1–3)‐[1‐3H] Galactitol), which is necessary to measure β‐N‐acetylhexosaminidase activity. This substrate was prepared from a cornea keratan sulfate by digestion with endo‐β‐galactosidase, followed by isolation of disaccharide on gel filtration chromatography and chemical desulfation. Using this substrate, we found that a striking deficiency of β‐N‐acetylhexosaminidase activity was present in the skin fibroblasts of patients with Sandhoff disease but not in Tay‐Sachs disease. Both β‐N‐acetyl‐hexosaminidase A & B contributed to the catabolism of keratan sulfate.
Testicular feminization syndrome (TFS) associated with paragonadal cysts
Authors: Renold F. , Bernardo J. Di , Schindler A.‐M.
Published: July 2010

This report describes a case of testicular feminization discovered at the age of 74 and associated with a malformation consisting of three large paratesticular cysts, interpreted as dilated remnants of the epididymis.
Distinctive hair changes (pili torti) in Rapp‐Hodgkin ectodermal dysplasia syndrome
Authors: Silengo M. Cirillo , Davi G. F. , Bianco R. , Costa M. , DeMarco A. , Ve R. , Franceschini P.
Published: July 2010

An 8‐year‐old girl with narrow nose, small mouth, maxillary hypoplasia, cleft palate, hypodontia and hypohidrosis is described. Her scalp hair was coarse, dry and wiry. Microscopic examination showed the hair to be twisted at irregular intervals on its long axis, as seen in pili torti. Her mother has the same features; as a child, she had identical hair and is now bald. Both mother and daughter display signs and symptoms of Rapp Hodgkin's ectodermal dysplasia. The autosomal dominant inheritance of the disease is further supported by the findings in this family.
The dermatoglyphic pattern of the Kabuki make‐up syndrome
Authors: Niikawa N. , Kuroki Y. , Kajii T.
Published: July 2010

Dermatoglyphic analyses of 12 patients with the newly recognized Kabuki make‐up syndrome revealed a combination of unusual dermatoglyphic patterns. They included frequent fingertip ulnar loop patterns (72%), the absence of digital triradius c or d (25%), an interdigital triradius bc or cd (33%), hypothenar loop patterns (67%), and ulnar loop patterns in the fourth interdigital area (17%). Other unusual findings included persistence of fingertip pads (58%), a single flexion crease of the fourth or fifth finger (25%), and an excess of minor flexion creases of the palm (92%).
The Coffin‐Lowry syndrome. Experience from four centres
Authors: Hunter Alasdair G. W. , Partington Michael W. , Evans Jane A.
Published: July 2010

The Coffin‐Lowry syndrome is an established syndrome of mental retardation, a characteristic facies and skeletal anomalies. This paper describes 12 cases from eight families and compares their findings with those of previously reported patients. The differential diagnosis is considered. Physical findings and pedigree data strongly support X‐linked semi‐dominant inheritance. The gene appears widely distributed and, as expected, a significant proportion of cases represent new mutations. We cannot confirm the metacarpal‐phalangeal profile or fingertip dermatoglyphics as useful diagnostic aids. Skin biopsy studies from four of our patients gave no evidence for a primary disorder of lysosomes or a degenerative disease. Caution is urged before assuming that such patients will all show intellectual deterioration.
Quantitative immunoassays for diagnosis and carrier detection in cystic fibrosis
Authors: Bullock Sarah , Hayward Caroline , Manson Jean , Brock David J. H. , Raeburn J. A.
Published: July 2010

Quantitative immunoprecipitation and immunoradiometric assays have been developed for a protein present in the serum of cystic fibrosis homozygotes, and to a lesser extent in the serum of heterozygotes. When tested on a panel of sera from 14 cystic fibrosis patients, 29 heterozygotes and 23 controls, the immunoprecipitation assay allowed correct assignments to be made on 94% of occasions with one batch of antiserum and 95% with another. With the same panel of sera, the immunoradiometric assay allowed 94% correct assignments. It is suggested that such accuracy is the maximum that can be expected in the present state of knowledge of cystic fibrosis.
Catalytically defective ganglioside neuraminidase in mucolipidosis IV
Authors: Ben‐Yoseph Yoav , Momoi Toru , Hahn Lisa C. , Nadler Henry L.
Published: July 2010

Cultured skin fibroblasts from patients with mucolipidosis IV were found to be deficient in neuraminidase activity toward GD1a and GD1b gangliosides radiolabelled in C8 and C7 analogs of their sialic acid residues. Neuraminidase activities toward 4‐methylumbelliferyl‐N‐acetyl‐neuraminic acid, neuraminlactose, and radiolabelled neuraminlactitol, fetuin and α1‐acid glycoprotein were within the range of normal controls. Fibroblasts from parents of patients with mucolipidosis IV demonstrated intermediate levels of ganglioside neurdminidase activity and normal levels of glycoprotein neuraminidase activity. The residual acidic neuraminidase activity toward GD1a ganglioside in the patients' fibroblasts did not differ from that of controls in its pH optimum and thermostability, but had an abnormal apparent Km which was about 18 times higher than that of the normal enzyme. These findings suggest that mucolipidosis IV is a gangiioside sialidosis due to a catalytically defective ganglioside neuraminidase.
X‐chromosomes attached by their long arm: case report and replication kinetics of the rearranged X‐chromosome
Authors: Petit P. , Fryns J. P. , Koumans J. , van den Berghe H.
Published: July 2010

A 16‐year‐old female with short stature, Turner syndrome stigmata, gonadal infantilism and 45,X/46,X, idic(X) (pter→ q21: q21 → pter) karyotype is reported. The replication kinetics of the abnormal X‐chromosome were studied.
Hyperexplexia: an inherited disorder of the startle response
Authors: Morley Debra J. , Weaver David D. , Garg Bhuwan P. , Markand Omkar
Published: July 2010

A family is presented with hyperexplexia, a rare autosomal dominant neurological disorder. Affected individuals manifest flexor hypertonia and hypokinesia during infancy. Later and throughout life, the condition is characterized by exaggerated involuntary myoclonic startle reactions, which on occasion result in failing. There are also marked nocturnal myoclonic jerks. Many family members have had congenital hip dislocations and inguinal hernias. Pre‐ and postnatal hypertonia is proposed as the cause for these problems. The nature and location of central nervous system dysfunction in hyperexplexia was investigated using electroencephalographic and brainstem‐evoked response techniques. A dysfunction of cortical inhibition of the brainstem‐mediated startle response is discussed as a possible pathogenic mechanism. Accurate diagnosis of this disorder is important in order to provide appropriate counseling and to initiate effective treatment.
A de novo tandem duplication 15(q21→qter) mosaic
Authors: Yip Moh‐Ying , Parsons Alan , Hultén Maj
Published: July 2010

A tandem duplication of region 15(q21‐qter) occurred de novo in a mosaic infant with the following features: facial dimorphism with very small palpebral fissures, large prominent nose, micrographic, edematous hands and feet, short stubby fingers, muscular hypotonia and convulsive seizures.
Association of Meckel syndrome with M‐anisosplenia in one patient
Authors: Moerman Ph. , Verbeke E. , Fryns J. P. , Goddeeris P. , Lauweryns J. M.
Published: July 2010

This report concerns the concurrence in a male infant of Meckel syndrome (Dysencephalia splanchnocystica) and M‐anisosplenia. a rare variant of the Ivemark asplenia syndrome. Because of one previous report of this combination, we assume a possible etiologic relationship.
The distribution of clinical findings in Bechterew's syndrome (ankylosing spondylitis) suggests distinct genetic subgroups
Authors: Møller Pål , Vinje Odd , Kåss Erik , Berg Kåre
Published: July 2010

One hundred and twenty‐two consecutive patients hospitalized for ankylosing spondylitis (AS) were reexamined. The frequency of clinical signs and results of tests for associations are presented. Psoriasis was associated with a distal pattern of peripheral arthropathy. Spinal rigidity was predominantly seen in males. Males with phalangeal arthropathy exhibited preserved spinal mobility. This was the case also when HLA B27 positives and patients who did not have psoriasis were considered separately. HLA B27 positive patients in this group had frequently experienced acute anterior uveitis. It seems possible that the disease in such males is the result of combined predisposition to ankylosing spondylitis and psoriatic arthropathy. Hip arthropathy was frequently present in males with spinal rigidity. The associations observed confirm that AS is a heterogenous group of diseases. The term “syndrome” may be suitable for such a heterogenous group, and we prefer the term “Bechterew's syndrome” as the name of this group. When these new findings are added to the previous observations that acute anterior uveitis probably is a clinical, sex‐influenced characteristic of HLA B27 positive Bechterew's syndrome, that HLA B27 negative patients with Bechterew's syndrome frequently had psoriasis and were HLA B13 and B17 negative, and that psoriasis was frequent in HLA B27 positive patients as well, we tentatively conclude that different and interacting genetic mechanisms may be involved in the etiology of Bechterew's syndrome.
Copper/zinc superoxide dismutase (SOD‐1) activity in regular trisomy 21, trisomy 21 by translocation and mosaic trisomy 21
Authors: Jeziorowska Anna , Jakubowski Lucjusz , Armatys Andrzej , Kaluzewski Bogdan
Published: July 2010

Cu/Zn superoxide dismutase (SOD‐1) (E.C.1.15.1.1.) activity was estimated in children with regular trisomy 21‐Down syndrome as well as in cases of translocation and mosaic trisomy 21, as identified by the GTG, CBG and RHG banding techniques. SOD‐1 activity was found to be increased in all examined cases except trisomy 21 mosaicism. These findings provide further proof of the gene dosage theory and additional biochemical evidence for the triplicate existence of the SOD‐1 gene localized on chromosome 21
Individualization of a syndrome with mental deficiency, macrocranium, peculiar facies, and cardiac and skeletal anomalies
Authors: Cantú J. M. , Sanchez‐Corona J. , Hernándes A. , Nazará Z. , Garcfa‐Cruz D.
Published: July 2010

The authors report four unrelated girls presenting mild mental deficiency and a distinct malformation syndrome, mainly consisting of short stature, macrocranium, peculiar facies with prominent forehead, hypertelorism and exophthalmos, cardiac anomalies and cutis laxa with characteristic wrinkled palms and soles, typical ribs, small vertebral bodies and slender long bones. All were sporadic cases of non‐consanguineous parents of advanced age at their births, suggesting a de novo autosomal dominant mutation.
Evidence for an autosomal recessive gene regulating the persistence of the insulin response to glucose in man
Authors: Iselius L. , Lindsten J. , Morton N. E. , Efendiź S. , Cerasi E. , Haegermark A. , Luft R.
Published: July 2010

The significance of genetic factors for insulin release after glucose infusion was studied in 155 nuclear families of which 59 were control families and 96 had been ascertained through a parent with onset of diabetes after 30 years of age. Fasting insulin and glucose as well as three principal components of the insulin and glucose curves were submitted to path analysis and complex segregation analysis. The three principal components were considered to reflect the magnitude, the degree of response and the persistence of the curves. The genetic heritability of the insulin variables varied between 0.47–0.93 and that of the glucose variables between 0.20–0.54. There were considerable intergenerational differences in the genetic heritability for the persistence of the glucose curve and for the degree of response and persistence of the insulin curve. The cultural heritability was found to be of minor importance, while the non‐transmitted sibling environment was large. There was significant evidence for a major locus for the persistence of the insulin curve. The best fit was for a completely recessive autosomal gene with the gene frequency 0.21. The phenotype distribution of this variable showed significant kurtosis which could simulate a major locus. However, the significant evidence for such a locus remained after an analysis using partial quantitation. The diabetics were significantly different from the non‐diabetics for all the variables studied, but a complete discrimination between the diabetics and non‐diabetics could not be obtained. There was no significant difference between the children of the diabetics and non‐diabetics for any of the variables studied.
Fronto‐metaphyseaI dysplasia. Further delineation of the clinical syndrome
Authors: Fitzsimmons J. S. , Fitzsimmons E. M. , Barrow M. , Gilbert G. B.
Published: July 2010

Fronto‐metaphyseal dysplasia is a rare but clinically striking condition characterized by skeletal and other abnormalities. Typical clinical and radiological features of the disease were present in four individuals in the family in this report. One of these, a male, had an obstructive uropathy at birth, making this the fourth male reported with fronto‐metaphyseal dysplasia and an associated renal abnormality. In addition, he had severe congenitaI stridor associated with sub‐glottic narrowing of the trachea. His affected sister also had severe congenital stridor associated with sub‐glottic stenosis and a tracheal web. Both children had recurrent respiratory tract infection requiring frequent hospital admission. Respiratory problems have been reported in several other individuals with frontometaphyseal dysplasia and it would appear that renal and respiratory tract abnormalities are part of the syndrome. Although sex‐linked inheritance has been considered the most likely mode of transmission of the disease, the segregation and clinical severity of the condition in this family could be equally well explained on the basis of dominant inheritance with varying expressively.
Interstitial deletion of chromosome 21
Authors: Modi N. , Buckton K. E.
Published: July 2010

A case report of an infant with the karyotype 46, XX, int del (21) (q21q22) is presented, in whom the 21 deletion syndrome or “antimongolism” is well defined clinically.
Interstitial de novo deletion of the long arm of chromosome 5: Mapping of 5q bands associated with particular malformations
Authors: Rodewald Alexander , Zankl Merve , Sitzmann Friedrich‐Carl , Zang Klaus Dieter
Published: July 2010

A new case of interstitial deletion of the long arm of one chromosome No. 5 (q13→q22) is described. The girl shows mental retardation, severe hypotonia, dysmorphic facies and peculiar dermatoglyphics. The relationship between partial trisomies and partial monosomies of 5q chromosomal segments and associated clinical features is discussed. It seems possible to draw a rough phenotypic map of the long arm of chromosome 5 (5q), correlating observed malformations and phenotypic features with specific chromosomal regions.
Chromosomal studies in healthy blood donors with IgA deficiency
Authors: Herrmann R. P. , Chipper L. , Bell S.
Published: July 2010

Chromosomal analysis was performed in 70 asymptomatic blood donors found over a 5‐year period in a large screening programme to be IgA deficient. No abnormalities were found in any of these individuals in relation to their chromosomal constitution and, in particular, chromosome 18 was normal in all individuals. A further 10 symptomatic individuals with IgA deficiency also showed a normal chromosomal constitution with no abnormalities of chromosome no. 18.
Interstitial deletion of chromosome 7: A case report and review of the literature
Authors: Gibson J. , Ellis P. M. , Forsyth J. S.
Published: July 2010

A de novo deletion 7q11→q21.2 was identified in a newborn with genital and other minor clinical abnormalities and some degree of psychomotor retardation. A review of the literature revealed a number of cases of deletion 7q, which can be categorized into three groups according to their breakpoints, Attempts to correlate phenotype with genotype in these cases have been only moderately successful, and as yet only deletion 7q32→qter can be associated with a definite clinical syndrome, although a tentative syndrome may be postulated in association with deletion of region 7q22→7q31.
Frontonasal dysplasia in the Klippel‐Feil syndrome: A new associated malformation
Authors: Fragoso R. , Cid‐García A. , Hernández A. , Nazará Z. , Cantú J. M.
Published: July 2010

This paper describes an 8‐year‐old girl with Klippel‐Feil syndrome (KFS) associated with frontonasal dysplasia, Sprengel deformity and postaxial polydactyly. These findings are tentatively explained on the basis of a single mutant gene for KFS with broad action in the morphogenesis of the skeletal system.
Mannosidosis in two brothers: prolonged survival in the severe phenotype
Authors: Patton M. A. , Barnes I. C. , Young I. D. , Harper P. S. , Pennock C. A.
Published: July 2010

Two cases of mannosidosis are reported in brothers, one aged 41 years at death, the other aged 40 years and still alive. These patients are the oldest reported in the literature. Prolonged survival has previously been associated with the milder Type II phenotype. In addition to the characteristic clinical and radiological features of mannosidosis, both had severe joint destruction, which may be related to abnormal lysosomal enzymes in cartilage. The activity of acidic a‐mannosidase was markedly reduced in plasma, leucocytes and fibroblasts, and the altered kinetic and physical properties are described.
Moebius syndrome in a child and extremity defect in her father
Authors: Collins Debra L. , Schimke R. Neil
Published: July 2010

A child with Moebius syndrome and minor extremity anomalies is described. Her father had a transverse defect of the right arm with absence of the radius and ulna just below the elbow but no cranial nerve dysfunction. While possibly unrelated, review of the literature suggests these anomalies may both be part of a single broad spectrum syndrome, perhaps dominantly inherited.
Homozygous deficiency of C4 in a child with a lupus erythematosus syndrome
Authors: Kjellman M. , Laurell A.‐B. , Löw B. , Sjöholm A. G.
Published: July 2010

A complete, selective lack of C4 was found in a girl who at 2 years of age presented with an atypical rash and low titres of antinuclear antibodies (< 1/25). Rheumatoid factors were also found. The deficiency has been followed for 5 years. Tests for Chido and Rodgers antigens on the erythrocytes were negative. A possible proneness to bacterial infections has been noted with recurrent otitis media and purulent parotitis. At the age of 5, the patient developed polyarthritis of large joints and signs of glomerulonephritis. These symptoms responded well to high‐dose steroid treatment. At present, there are initial signs of sclerodactylia and some persistent exanthema and parotic swelling. IgM levels were remarkably high with 19 S IgM at about 7 g/1 and 7 S IgM at about 1.5 g/l. In the large kindred studied, lower immunochemical and functional C4 values were found in carriers of the genetical defect than in the rest of the family members. The C4 deficiency gene(s) segregated with HLA A2, Cw3, B40, BfS on the paternal, and with Aw30,‐, B18, BfF1 on the maternal side of the family.
Long‐term follow‐up of children born after amniocentesis
Authors: Gillberg Christopher , Rasmussen Peder , Wahlström Jan
Published: July 2010

Paediatric and neurodevelopmental examinations were made of 122 children between the ages of 5 and 7 years. The mothers of 62 of these children had undergone amniocentesis for prenatal chromosome determination. The other 60 children were controls, matched for time of birth and maternal age. The fact that no difference between the groups was revealed in respect of paediatric and neurodevelopmental disorders, orthopaedic abnormalities, or respiratory problems during the neonatal period indicates that the risk for developmental complications is not increased in children born after amniocentesis in the second trimester.
Do the MN and Jk systems influence environmental variability in serum lipid levels?
Authors: Martin N. G. , Rowell D. M. , Whitfield J. B.
Published: July 2010

Significant heterogeneity in the distribution of within pair variances of serum total cholesterol, HDL cholesterol, non HDL cholesterol and triglyceride levels has been found in one or both of two samples of MZ twins. We have found some support for the observation of Magnus et al. (1981) that M˜ pairs have greater environmental variability in cholesterol levels than M +pairs and weaker evidence that Jka+pairs are more variable than Jka‐pairs. However, these effects appear to be more striking on triglyceride levels. The low power of the variance ratio test is advanced as a possible reason for the inconsistencies in these findings.
The epidemiology of conjoined twinning in Southern Africa
Authors: Viljoen D. L. , Nelson M. M. , Beighton P.
Published: July 2010

Thirty‐one sets of conjoined twins were born in Southern Africa during the period February 1974 to May 1982 with a striking increase in incidence in 1974 and 1975. There was no ethnic or social predilection, but clustering of cases occurred in a remote area of Zimbabwe. No aetiological agent was discovered, and there was no seasonal variation in the time of conception. Female conjoined twins accounted for 62% of cases, and twenty sets were of the thoracopagus type. Four pairs were separated, three of which were of the xiphopagus subtype and have survived.
Familial cancer or cancer family syndrome. Report on a cancer family and consideration of genetic mechanisms
Authors: Maack P. , Rudiger H. W.
Published: July 2010

We present a family with an unusually high incidence of cancer in four generations. Complete information could be obtained for the first three generations with 73 persons. Tumor incidence was 2/8 in the first generation, 14/22 in the second, and 11/44 in the third generation. A formal analysis, however, according to the four criteria of cancer family syndrome: increased frequency of adenocarcinomas of multiple anatomical sites, multiple primary malignant neoplasms, early age of onset, and autosomal dominant mode of inheritance, revealed that in this family multiple primaries are virtually absent and that tumors do not occur at a particularly early age. We therefore consider this family shows that familial clustering of tumors may follow an autosomal dominant pattern of inheritance even when the strict criteria of cancer family syndrome are not fulfilled. We conclude that the phenomenon of cancer families is not confined to one or two distinct clinical types.
Dermoodontodysplasia: an eleven‐member, four generation pedigree with an apparently hitherto undescribed pure ectodermal dysplasia
Authors: Pinheiro Marta , Freire‐Maia N.
Published: July 2010

A Caucasian family was verified to have 11 affected persons (7 women and 4 men) in four generations. A mild and variable clinical picture (dry, thin skin, dental involvement, and nail alteration) was verified in all the affected, with the exception of the propositus who has a more severe clinical picture, besides also having trichodysplasia. The segregation ratio (11 normal: 10 affected) verified in the offspring of the affected and other criteria permit the hypothesis of an autosomal dominant gene. This pure dysplasia was compared to 27 other conditions belonging to the tricho‐odonto‐onychial subgroup and proved to be different from all the others.
A Rothmund‐Thomson case with hypertension
Authors: Dechenne CH. , Chantraine J. M. , Davin J. C.
Published: July 2010

An unusual association of Rothmund‐Thomson syndrome and hypertension is described. The histologic studies showed large narrowing and calcification of arteries at renal biopsy, thickenings of glomerular basement membranes and nodules of subendothelial basement membrane lamellae in arterioles by means of electron microscopy. The mechanisms of these morphologic alterations are discussed with regard to disturbances of collagenous and fundamental substances of metabolism.
45 XO/49 XYYYY Mosaicism in a male with stigmata of Turner's syndrome
Authors: Pincheira Juana V. , Bustos‐Obregón Eduardo , Pumarino Hugo , Santos Manuel A.
Published: July 2010

A male subject with Turner‐like stigmata and chromosomic constitution 45, XO (97.5%) and 49.XYYYY (1.1%) is reported.

The finding of a low percentage line bearing Y chromosome in a patient with clinical features similar to those described for XO males, would support the hypothesis that masculinization in certain individuals with 45, XO karyotype may be due to an undetected mosaicism.
Autosomal dominant craniometaphyseal dysphasia. Clinical variability
Authors: Carnevale Alessandra , Grether Patricia , Castillo Victoria del , Takenaga Raul , Orzechowski Aurora
Published: July 2010

The autonomic dominant form of craniometaphyseal dysplasia was ascertained in three members of a Mexican family. The clinical and radiological features of the affected members are described and the variability of the condition is emphasized. The proband has striking cranial changes, but moderate long bone abnormalities; the father and the sister, who had mild cranial changes, showed the characteristic metaphyseal widening.
In vitro growth characteristics of skin fibroblasts from patients with adenomat‐osis of the colon and rectum and their reIatives
Authors: Heim Sverre
Published: July 2010

Sub‐epidermal biopsies from normal‐appearing skin of the upper arm were obtained from patients with adenomatosis of the colon and rectum (ACR) and their relatives. A total of 78 different fibroblast cell strains were tested for their in vitro growth characteristics (plating efficiency, cloning efficiency, growth rate, ability to grow in low‐serum medium, cultural morphology, anchorage dependency, contact inhibition at saturation density). The cell strains included 6 from patients with Gardner's syndrome, 25 from patients with ACR without Gardner's syndrome, 9 from “at risk” relatives, and 38 from healthy relatives who were not at an increased risk for ACR. No consistent growth differences were found between the cell strains from the different groups. Instead, this material provides a “normal standard” for in vitro growth characteristics of human skin fibroblasts.
Correlation between testicular tissue and H‐Y phenotype in intersex patients
Authors: Müller U. , Mayerová A. , Debus B. , Fraccaro M. , Gilgenkrantz S. , Glatzl J. , Madan K. , Pfeiffer R. A. , Prader A. , Zuffardi O.
Published: July 2010

H‐Y antigen was tested in 13 humans with testicular tissue and disturbed primary and/or secondary sex differentiation. All cases typed H‐Y positive. This finding is in agreement with the idea that testicular tissue only differentiates in the presence of H‐Y antigen.
Reproductive drive and genetic counselling
Authors: Côté G. B.
Published: July 2010

A proper reproductive decision must take the intensity of the reproductive drive into account. Algebraic argumentation clearly shows that binary transposition of the odds and reproductive roulette are often inevitable, especially if the reproductive drive is not duly considered during the counselling process.
Two different structural abnormalities of chromosome 13 in offspring of chromo‐somally normal parents with two fragile sites
Authors: Mules E. H. , Stamberg J. , Jabs E. W. , Leonard C. O.
Published: July 2010

Two siblings were found with different structural abnormalities involving their maternally inherited chromosome 13. The proband exhibited a ring 13 and a small fragment: 46, XX, r(13) (pllq34), +f, while her clinically normal brother carried a dicentric Robertsonian translocation: 45, XY, dic(13;15) (pl 1;pl 1). Both parents had normal karyotypes in peripheral blood and skin fibroblasts. The structural abnormalities of chromosome 13 may be due to an unstable gonadal 13; 15 translocation in the mother. In addition, two autosomal fragile sites were segregating in this family. The mother had a fragile (16) (q22) which was inherited by the proband. The father and paternal grandmother possessed a fragile (12)(q13) which was not inherited by either child. The expression of both fragile sites was dependent on culture conditions.