bluuebunny/crossref_metadata_2025 huggingface dataset:
Robertsonian translocation and an extra microchromosome: aetiology and effect on meiotic segregation
Authors: Howard P. J. , Fielding D. W.
Published: July 2010

A familial Robertsonian translocation accompanied by a marker chromosome t(14q;21q), + iso die (?14 721)(pter→ q11.1) is described. The evolution of the marker is considered in relation to a model proposed by ultrastructural studies of acrocentric bivalents for the formation of Robertsonian‐type translations. Previous reports have suggested that a marker chromosome may be of pathogenetic importance for non‐disjunction of chromosome 21. The effect of the marker chromosome on meiotic segregation in the family described and its implications upon genetic counselling are considered.
Proximal duplication of the long arm of chromosome 10 (10q11.2 → 10q22): a distinct clinical entity
Authors: Fryns J. P. , Kleczkowska A. , Igodt‐Ameye L. , Berghe H. Van den
Published: July 2010

This report summarizes the clinical and cytogenetic findings in a 16‐year‐old moderately mentally retarded girl with lOql 1.2→10q22 duplication. The phenotypic findings are identical to those found in one other patient with the same autosomal duplication. These data suggest that proximal lOql 1.2–10q22 duplication is associated with a specific clinically recognizable syndrome.
Dyslexia and chromosome 15 heteromorphism: negative lod score in a Danish material
Authors: Bisgaard M. L. , Eiberg H. , Møller N. , Niebuhr E. , Mohr J.
Published: July 2010

From a large Danish material of random families we selected families with dyslexia as reported by the families themselves and as recorded by a dyslexia institute. Among five “backcross families” studied for chromosome 15 polymorphisms we found only negative lod scores, and at thêta = 0.10 a negative score of ‐3.42; i.e., in our material we did not find any confirmation of the indication of linkage between dyslexia and a chromosome 15 polymorphism found in part of their material by Smith et al. (1983, 1986).
A case of first trimester chromosomal mosaicism confined to the cultivation of the gestational products
Authors: Smidt‐Jensen Steen , Lind Anne‐Marie
Published: July 2010

The advantages of the emergence and developmcnt of chorionic villi sampling (CVS) for early prenatal diagnosis are evident, but there are a host of new diagnostic problems caused by the use of extraembryonic tissues. We report a case in which 45X/46XY mosaicism was diagnosed by cultivation of chorionic villi and fetal cells. Direct chromosomal preparations of chorionic villi failed to diagnose the abnormality.
Partial trisomy 3q syndrome inherited from familal t(3;9) (q26.1;p23)*
Authors: Tranebjærg Lisbeth , Bækmark Ulla Britt , Dyhr‐Nœlsen Margrethe , Kreiborg Sven
Published: July 2010

A five‐year‐old girl was referred to prometaphase chromosome analysis because of mental retardation, facial dysmorphic features suggestive of Cornelia de Lange syndrome, cleft palate and additional minor congenital malformations of the cardiac System and fingers and toes. A familial balancee translocation (3;9)(q26.1;p23) was found. The karyotype of the proposita was 46,XX,der(9),t(3;9)(q26.1;p23). Thus the patient was trisomie for 3q26.1‐qter and mono‐somic for 9p23‐ptcr. The unbalanced chromosome constitution was not detected by standard Q‐banding analysis shortly after birth. The karyotype was misdiagnosed as 46,XX,9(p+) in the proposita and her mother, and thought to be a normal variant of chromosome 9. The repeated cytogenetic study led to the diagnosis of the translocation and to the possibility of prenatal diagnosis in the translocation carriers.

A survey of 22 published cases of dup(3q) showed that nearly 60% were secondary to familial balanced rearrangements with an excess of maternally derived abnormal chromosomes 3. Red blood cell galactose‐ 1‐phosphate‐uridyltransferase (GALT) activity was normal in the patient, consistent with previous assignment of the gêne locus for GALT to 9pl3 (Shih et al. 1982).
Severity and recurrence risk of congenital heart defects exemplified by atrial septal defect secundum
Authors: Gold R. J. M. , Rose V. , Yau Y.
Published: July 2010

It has been reported that the frequency of congenital heart defects (CHD) in children of an affected parent is now three to five times what it was 20 years ago. One conceivable cause of this is that patients with CHD of a severity that would have precluded parenthood before the advent of treatment are now able to (and consequently do) have children once the defect has been corrected. The mean severity of CHD among parents who have it would have thereby increased and this might, in turn, have increased the frequency of CHD in their children. But the latter would occur only if severely affected parents confer a greater risk on their children than parents who are mildly affected. To determine whether this is the case, we investigated 83 probands, each of whom had had an atrial septal defect secundum whose dimensions had been recorded at the time of operation. Of their 166 children, 17 had CHD. The defects of probands with affected children were not found to be significantly different in size from the defects in probands whose children were all normal. Analysis of the hemodynamic data available yielded a similar result. Our findings decisively exclude surgical correction as a significant explanation for the increased recurrence of atrial septal defect.
The ulnar‐mammary syndrome: an autosomal dominant pleiotropic gene
Authors: Schinzel Albert
Published: July 2010

A family is described in which four male patients spanning three generations present a consistent clinical entity, the major features of which include: ulnar finger and fibular toe ray defects; delayed growth and onset of puberty, obesity, hypogenitalism and diminished sexual activity; hypoplasia of nipples and apocrine glands with subsequently diminished ability to perspire. Additional Findings in single cases include pyloric, anal and subglottic stenosis. To date, another 12 patients in three families have been described with this syndrome. The condition appears to be inherited as an autosomal dominant trait with full penetrance and highly variable expression.
Intrafamilial variability in fucosidosis
Authors: Willems P. J. , Garcia C. A. , De Smedt M. C. H. , Martin‐Jimenez R. , Darby J. K. , Duenas D. A. , Granado‐Villar D. , O'Brien J. S.
Published: July 2010

Two families with five patients affected with fucosidosis are described. Within each family, both type I and type II fucosidosis are present. This suggests that environmental factors or “modifying genes” different from the fucosidase structural gene contribute to the phenotype of a fucosidosis patient.
No increased chromosome breakage in skin fibroblasts from patients with musculoskeletal sarcoma
Authors: Mertens Fredrik , Johansson Bertil
Published: July 2010

The frequency of structural chromosome aberrations was studied in cultured skin fibroblasts from 25 untreated patients with musculoskeletal sarcoma and 25 controls. Subepidermal skin biopsies from the sarcoma patients were taken either close to the tumor (10 patients), at a distance from the tumor, i.e., from a contralateral limb (8 patients), or from both sites (7 patients). The aberration frequencies in fibroblasts obtained from different locations did not differ significantly (P>0.05). The two groups of fibroblast lines were therefore pooled, yielding a total of 25 sarcoma patients with the following mean frequencies of aberrant cells, and gap, break, and gap + break events: 5.3, 2.8, 3.2, and 6.1. Among the controls the corresponding rates were 5.1, 2.6, 3.2, and 5.8. The differences were not statistically significant. These results provide no evidence of local differences in chromosome aberration frequencies, or that inherent chromosomal instability is important for the pathogenesis of sarcomas.
Recombinational event between Norrie disease and DXS7 loci
Authors: Ngo Julielani T. , Spence M. Anne , Cortessis Victoria , Sparkes Robert S. , Bateman J. Bronwyn
Published: July 2010

We have identified a family affected with X‐linked recessive Norrie disease, in which a recombinational event occurred between the disease locus and the DXS7 locus identified by the probe L1.28. The addition of our family brings the total of published informative families to seven, with a maximum lod score of 7.58 at a recombination frequency of 0.038 pL 0.036. This finding indicates that the L1.28 probe is useful but may not be completely reliable for prenatal diagnosis and that the gene for Norrie disease is not within the DNA sequence identified by the L1.28 probe.
Autosomal dominant antecubital pterygium: syndromic status substantiated
Authors: Wallis C. E. , Shun‐Shin M. , Beighton P. H.
Published: July 2010

An autosomal dominant (AD) antecubital pterygium syndrome has been documented on the Indian Ocean Island of Rodrigues, and 11 affected family members in five generations have been studied over four decades. The consistent features include a fleshy web extending across the anterior aspect of the cubital fossa, absence of the long head of the triceps, limitation of full elbow extension and missing skin creases over the terminal inter‐phalangeal joints of the fingers. On the basis of our observations, we consider that this condition warrants acceptance as an autonomous AD entity.
An unbalanced autosomal translocation (7;9) associated with feminization
Authors: Crocker M. , Coghill S. B. , Cortinho R.
Published: July 2010

A newborn girl presented with generalized mild dysmorphic features. She later developed heart failure and hydrocephalus, and died aged 5 months. Chromosome analysis revealed an unbalanced reciprocal translocation (with partial trisomy for half of the long arm of 7 and partial monosomy for the short arm of chromosome 9) and normal but inappropriate sex chromosomes (XY). The karyotype (46, XY,‐9, + der(9), t(7;9)(q31.1;p23)pat) was inferred from her father who was a balanced carrier: 46, XY,(7;9)(q31.1;p23). The evidence of the present case, when considered with that of previous reports, suggests that deletion of genes on the 9p may have caused the feminization and therefore that the 9p region may contain genes which are important in the normal process of testis formation.
Ring chromosome 5
Authors: Flannery D. B. , Rogers W. G. , Byrd J. Rogers
Published: July 2010

A case of an infant with ring chromosome 5 is presented. The phenotype of this patient and other reported cases is analyzed with respect to the deletion of the long arm of chromosome 5.
Oculocerebral syndrome with hypopigmentation (Cross syndrome): Report of two siblings born to consanguineous parents
Authors: Fryns J.P. , Dereymaeker A.M. , Heremans G. , Marien J. , van Hauwaert J. , Turner G. , Hockey A. , van den Berghe H.
Published: July 2010

In this report we describe two siblings, a 17‐year‐old male and his deceased sister, born to consanguineous parents, and presenting an oculocerebral syndrome with hypopigmentation as first delineated by Cross in 1967. In addition to the cutaneous hypopigmentation, both presented deep mental retardation and spastic tetraplegia with athetoid movements. A remarkable finding in this family is that a third sibling, an otherwise normal 23‐year‐old male, presents the same hypopigmentation with white‐grey hair colour as his two severely affected siblings.
Sperm chromosome analysis to assess potential germ cell mosaicism
Authors: Brandriff B. , Gordon L. A. , Crawford B. B. , Schonberg S. A. , Golabi M. , Charzan S. , Golbus M. S. , Carrano A. V.
Published: July 2010

Human sperm chromosome complements were examined to assess the possibility that the conceptions of two children with the same chromosomal defect, del(13)(q22q32), from chromosomally normal parents were the result of a paternal germ cell mosaicism. Analysis of 216 complements, both by quinacrine banding and by measuring the relative length of chromosome 13, showed no unusual subpopulation of 13s; this decreased the likelihood of a paternal origin of the deletion. Sperm chromosomal analysis is a useful adjunct to available techniques in clinical genetics. When counseling cases involving either structural or numerical de novo chromosome abnormality, it is of importance to discuss the possibility of germ cell line mosaicism as well as to offer prenatal diagnosis for subsequent pregnancies.
Differential expression of pepsinogen isozymogens in a patient with Barrett esophagus
Authors: Pals G. , Eriksson A. W. , Pronk J. C. , Frants R. R. , Klinkenberg‐Knol E. C. , Bosma A. , Westerveld B. D. , Taggart R. T. , Samloff I. M. , Meuwissen S. G. M.
Published: July 2010

The pepsinogen A (PGA) isozymogens in the gastric mucosa and Barrett epithelium of a female patient with Barrett esophagus were studied on different occasions during a 3‐year period by electrophoretic analysis of in vivo steady‐state pepsinogen in biopsies by activity staining in combination with variant specific monoclonal antibodies and of de novo synthesized pepsinogen by autoradiography. In Barrett epithelium only one (Pg3) or two (Pg3 and Pg5) primary PGA gene products were detected, whereas in gastric mucosal biopsies three (Pg3, Pg4 and Pg5) primary gene products were demonstrated on all occasions. These differences strongly suggest differential expression/activation of individual gene numbers in the PGA gene cluster in Barrett esophagus and are in line with the preneoplastic nature of this condition. The mechanism behind this deregulation is currently under investigation by cell biology and molecular genetic techniques.
Child neuromuscular disease in Southern Norway: Prevalence, age and distribution of diagnosis with special reference to “non‐Duchenne muscular dystrophy”
Authors: Tangsrud Svein‐Erik , Halvorsen Sverre
Published: July 2010

The prevalence of child neuromuscular disease in Southern Norway by January 1st, 1983, was studied by collecting data from all available sources. All children born 1.1. 1965 or later were included in the study. The total group consisted of 110 patients from 17 different diagnostic categories. Total prevalence on this group was found to be 24.9 times 105. Duchenne muscular dystrophy (DMD), with a prevalence of 10.89 times 105 constituted 29.2% of the total material. In the spinal muscle atrophy group (SMA), we found a significant increase in the number of boys affected, although an autosomal recessive mode of inheritance was found likely in all probands. Prevalence figures of child neuromuscular disease are hard to compare, as most studies deal with an adult population. The prevalences of common and well‐known large categories of neuromuscular diseases in childhood are in agreement with previous studies. For less well known and mild diseases, our figures are low. This may be due in part to a later onset and in part to a health system not sensitive to parents' complaints.
Familial occurrence of isodicentric X chromosomes with different breakpoints
Authors: Midro Alina T. , KulikowskI Marek , Sawicka Anna , Panasiuk Barbara , Korsak Elzbieta
Published: July 2010

We report two cases of an idic (X) chromosome found in relatives with Turner's syndrome. A 21‐year‐old female revealed a non‐mosaic form of X isochromosome of the long arms with two C‐band regions, i.e. dic(X)(qter→cen→pll::pll→cen→qter). Her 46‐year‐old aunt with Turner's syndrome had an X chromosome with long arm breakpoints at site q21 and chromosomal mosaicism, i.e. 45,X/46,X, dic(X)(pter→q21::q21→pter)(78/22). The relative rarity of reports about familial Turner's syndrome with structural abnormality may suggest a coincidence. However, it is difficult to exclude familial predisposition to X isochromosome formation in this family.
Defective polymorphonuclear chemotaxis in patients with Turner's
Authors: López‐Osuna Martha , Vega‐Avila Elisa , Salamanca Fabio , Kretschmer Roberto R.
Published: July 2010

Polymorphonuclear leucocytes from patients with full Turner's syndrome (45,X) revealed a significantly weaker chemotactic response towards zymosan‐activated serum than normal female and male controls. Random mobility and chemokinetic responses of polymorphonuclear leucocytes were normal, and so were all locomotive responses of mononuclear phagocytes in patients with Turner's syndrome. A subclinical polymorphonuclear leucocyte chemotactic defect is suggested by these results, and a possible regulatory effect by a gene(s) in chromosome X (and Y) that must be present in a full double dose to preserve this function can be proposed. Control of polymorphonuclear leucocyte chemotaxis may represent yet another exception to the general rule of X‐inactivation.
PRUFILE: a clinical and laboratory database for the genetics centre
Authors: Mutton D. E. , Chown K. , Thomson L. , Berry A. C. , Botcherby P. K. , Bobrow M.
Published: July 2010

The growing complexity and volume of workload in a Clinical Genetics Centre can rapidly swamp the available clerical facilities. The multiuser database described gives facilities not only for administrative control and documentation but also for the production of data for clinical and scientific analysis. The close link between clinical and laboratory databases gives great versatility and easy expansion as new tests and disciplines are applied to clinical genetic problems.
Terminal deletion of the short arm of chromosome 5
Authors: Baccichetti C. , Lenzini E. , Artifoni L. , Caufin D. , Marangoni P.
Published: July 2010

Three cases of deletion of the short arm of chromosome 5 are described: one family cluster, in which the mother and three sons are affected, and two sporadics without the typical “cri du chat” phenotype (the family and Case 2 were previously reported in 1982). Mental retardation varied between affected members of the same family. Band p15.2 appears critical for the development of the complete phenotype. A peculiar deafness observed in the familial and one of the sporadic cases suggests a cochlear malformation.
Trisomy (1q) (q42→qter): confirmation of a syndrome
Authors: Chia N. L. , Bousfield L. R. , Poon C. C. S. , Trudinger B. J.
Published: July 2010

This paper describes for the first time the clinical findings in a case of pure trisomy (1q)(q42→qter). Eight cases involving this trisomy have been reported previously, but these were complicated by additional chromosomal changes, and hence the assignation of a discrete phenotype remained doubtful. The clinical abnormalities reported here, most of which were included amongst others in the previous reports of trisomy (1q)(q42→qter), provide the basis for characterisation of this condition as a syndrome. These changes comprised macrocephaly, prominent forehead, micrognathia, large fontanelle, flat nasal bridge, low‐set ears, facial capillary naevi, cardiac defect and small size for gestational age.
Ectrodactyly (split‐hand/split‐foot) and ectodermal dysplasia with normal lip and palate in a four‐generation kindred
Authors: Wallis C. E.
Published: July 2010

Five members of a four‐generation Mauritian family with ectrodactyly (split‐hand/split‐foot deformity) and ectodermal dysplasia but without clefting of the lip or palate have been investigated. The ectrodactyly ranged from virtual normality to severe tetramelic deficiencies. The ectodermal dysplasia manifested as hypotrichosis and abnormal dentition. Distinction is drawn between this autosomal dominant condition and the classical EEC syndrome; independent syndromic status is proposed.
A new type of muscular dystrophy in two brothers: analysis by use of DNA probes suggests autosomal recessive inheritance
Authors: Goonewardena Ponmani , Gustavson Karl‐Henrik , Gamstorp Ingrid , Lundström Nils‐Rune , Pettersson Ulf
Published: July 2010

X‐chromosome‐specific DNA probes were used to study a new type of muscular dystrophy (MD) presented by two boys in a family in which there was no previous history of neuromuscular disease. Clinical investigations showed evidence of myogenic myopathyia, but its exact nature could not be established. The results of the DNA analysis exclude DMD, BMD and EMD. We suggest a probable autosomal recessive inheritance for the MD seen in this family.
Fertility and X‐chromosome rearrangements: isodicentric X‐chromosome formation in the mother and Xp deletion in her daughter
Authors: Fryns J. P. , Kleczkowska A. , Debucquoy P. , van den Berghe H.
Published: July 2010

In the present paper we report the first example of fertility in a female with isodicentric X‐formation and karyotype 45,X/46,X,del(X)(pter → p21.3)/46,X,idic(X)(qter →p21.3→p21.3 → qter). Her daughter was phenotypically almost normal and presented a 46,X,del(X)(pter → p21.3) karyotype in all examined cells.
X‐linked recessive inheritance of an orofaciodigital syndrome with partial expression in females and survival of affected males
Authors: Edwards Matthew , Mulcahy Des , Turner Gillian
Published: July 2010

We describe a family with clinical features of orofaciodigital (OFD) syndrome type 2 or Mohr syndrome, X‐linked recessive inheritance and survival of affected males which has not previously been reported. Four affected males in three generations have survived into infancy and two female heterozygotes have very mild expression. Foetal ultrasonography enabled antenatal diagnosis.
Evaluation of genetic counselling: recall of information, post‐counselling reproduction, and attitude of the counsellees
Authors: Somer M. , Mustonen H. , Norio R.
Published: July 2010

Of the families who had received genetic counselling between 1972 and 1981, 791 replied to a questionnaire which covered recall of information, post‐counselling reproduction and attitudes towards counselling and prenatal diagnosis. Eighty percent had adequate knowledge of mode of inheritance and 74% of recurrence risk. Knowledge of mode of inheritance was poorest in multifactorial transmission (63%) and knowledge of recurrence risk in X‐chromosomal disorders (61%). Forty‐five per cent of the families had started a pregnancy after the counselling. The variation was between 57% (risk –<5%) and 31% (risk >25%). Early lethality of the disorder and feasibility of a prenatal study contributed to positive reproductive decisions. Nine per cent of the children born after the counselling were affected by the disorder in question. The observed risks tended to match well with the expected ones. Sixty‐two per cent of the respondents felt that the counselling had had a great or moderate impact on their reproductive plans. Forty‐two per cent expressed a wish to hear the counsellor's opinion in addition to the facts. This was more common when the disorder was severe. Although most couples (53%) wished to have a prenatal study, if feasible, and abort an affected foetus, 16% were against abortion in such a case and 31% wished to have the study but were ambiguous about an abortion.
Dominant inheritance of tooth malpositions and their association to hypodontia
Authors: Svinhufvud Elina , Myllärniemi Sinikka , Norio Reuo
Published: July 2010

Four kindreds with family‐specific malposition of cuspids were studied. Besides malposition of cuspids, the members also showed varying combinations of other anomalies: malposition, malformation or hypodontia of upper lateral incisors, second bicuspids and lower central incisors. The pedigrees provided convincing evidence for autosomal dominant transmission of the abnormalities studied. Their nature and location allow the assumption that they represent different expressions of one dominant gene causing a primary disturbance in the critical marginal area of the embryonic dental lamina.
Mosaicism for ring 19: a case report
Authors: Sybert Virginia P. , Bradley Cynthia M. , Salk Darrell
Published: July 2010

A male with mosaicism for ring 19 presented with a complex cardiac malformation, microcephaly and minor dysmorphic features. Intellectual development has been within normal limits. This chromosome aberration has been reported only twice before and no clear phenotype‐karyotype correlations are recognized.
Bardet‐Biedl and Laurence‐Moon syndromes in a mixed Arab population
Authors: Farag Talaat I. , TEEBI AHW S.
Published: July 2010

In the Arab population of Kuwait of approximately 1.3 million, 26 cases in 15 families were ascertained to have Bardet‐Biedl syndrome (20 cases in 13 families) or Laurence‐Moon syndrome (6 cases in 2 families). The apparently increased frequency of these interrelated autosomal recessive syndromes in Arabs is discussed in view of the high consanguinity rate and large family size.,
Variability gene effect on cholesterol at the Kidd blood group locus
Authors: Berg Kåre
Published: July 2010

The within‐pair difference in lipid levels was examined in 142 monozygotic (MZ) twin pairs drawn from the population‐based Norwegian Twin Panel. Mean within‐pair difference in serum total cholesterol was lower in MZ pairs who were heterozygous for blood group Kidd genes or homozygous for the Jkb gene than in pairs who were homozygous for the Jkb gene. The difference between the two categories of homozygotes was significant at the 2% level. The analyses suggest that the main reason for the difference observed is a restrictive effect of the Jkb gene on total cholesterol variability. No effect on triglycerides or HDL cholesterol variability was detected and there was no association between Kidd blood groups and sex and age‐adjusted levels of cholesterol, triglycerides or HDL cholesterol. The present data confirm findings we reported when we introduced the study of within‐pair variability in MZ twins as a method to analyse gene‐environment interactions and validate the “variability gene” concept. A person's net risk for coronary heart disease may depend on his or her combination of “level genes” and “variability genes” as well as on environmental or life‐style factors.
Partial deletion of the short arm of chromosome 20: 46,XX,del(20)(p11)/46,XX mosaicism
Authors: Silengo Margherita Cirillo , Bell Graciela Lopez , Biagioli M. , Franceschini P.
Published: July 2010

A 46,XX/46,XX,del(20)(p11) mosaicism was identified in a 10‐month‐old female infant with multiple congenital anomalies, development retardation and failure to thrive. The 20p partial deletion was observed in 50% of the cells examined. Both parents had normal phenotype and karyotype. Only four other patients with partial 20p deletion are known and they are not mosaics. Their clinical findings are similar to those of our patient; in particular, they share anomalies of the vertebral column such as segmentation errors and “butterfly‐shaped” vertebrae.
In situ fluorescence hybridization of Y translations: cytogenetic analysis using probes Y190 and Y431
Authors: Kozma Robert , Adinolfi Matted
Published: July 2010

Two moderately repetitive DNA probes (Y190 and Y431) and a fluorescent in situ hybridization technique, using a biotin, avidin, anti‐avidin system, were employed to investigate a group of patients with Y chromosome abnormalities. In normal male subjects, a bright fluorescent spot could be detected in cells in interphase and on the short arm of the Y chromosome in metaphase spreads. Translocations of DNA fragments of the short arm of the Y chromosome to autosomes 10, 13 and 15 were observed in five patients. In a 45,XX male subject the translocation involved one of the X chromosomes. With this in situ hybridization procedure, bright fluorescent spots were also noticed in uncultured amniotic cells and chorionic cellular elements from male fetuses, thus allowing a rapid and reproducible approach to prenatal fetal sexing.
X‐linked lymphoproliferative disease: linkage studies using DNA probes
Authors: Harris Ann , Lenor Gilbert M. , Lankester Shelley A.
Published: July 2010

Linkage studies have been carried out with 28 X‐linked polymorphic probes to try to locate the gene for X‐linked lymphoproliferative disease (XLP). DNA from three families has been analysed, including three affected boys among 21 family members. None of the probes tested has been found to be linked to XLP. However, the data are recorded for the use of other workers on this rare disease.
Population studies of Huntington's disease in Wales
Authors: Quarrell O. W. J. , Tyler A. , Jones M. P. , Nordin M. , Harper P. S.
Published: July 2010

Long‐term surveillance of Huntington's disease families living in South Wales has been undertaken since 1973. We report the updated data on prevalence and births in 101 kindreds. The trend in the births at risk of Huntington's disease has been compared with a control population in North Wales.
Partial duplication of the eyebrows with other congenital malformations: a new syndrome
Authors: Berkenstad M. , Zahavie H. , Goodman R. M.
Published: July 2010

Congenital malformations involving the eyebrows are a rare phenomenon. Recently we have seen a case with partial duplication of the eyebrows and multiple other malformations. Because of the presence of close parental consanguinity, we believe this constellation of findings represents a new syndrome, possibly transmitted as an autosomal recessive disorder.
Life‐span and Menkes kinky hair syndrome: report of a 13‐year course of this disease
Authors: Sander Conrad , Niederhoff Helmut , Horn Nina
Published: July 2010

The life‐span of Menkes syndrome patients is discussed in connection with a boy suffering from this disease who lived to the age of 13.5 years. The copper metabolism defect is described. Therapeutic trials, mainly copper substitution, and prospects are summed up.
Verbal deficits in Klinefelter (XXY) adults living in the community
Authors: Porter M. Elaine , Gardner H. Allen , DeFeudis Patricia , Endler Norman S.
Published: July 2010

Forty‐two adult males ‐ 10 with Klinefelter's syndrome (karyotype XXY), 17 with normal sex chromosome karyotype (XY) but with physical signs of hypogonadism, and 15 presumed to be normal both chromosomally and hormonally ‐ completed tests of Verbal and Nonverbal ability. It was predicted: a) that the XXY group would perform more poorly than the other two groups on tests of Verbal ability, and b) that the XY, hypogonadal group would perform more poorly than the others on tests of Non‐verbal ability. The first hypothesis was supported. However, in spite of measurable verbal deficits, the XXY men (whose parents were more highly educated than those of the other two groups) did not appear to be underachievers. Rather, they were, in general, as well educated, as likely to be employed, and of socioeconomic status equivalent to that of the other men in the study. These findings are discussed briefly in terms of implications for early childhood education and genetic counselling. The second hypothesis was not supported: this is attributed to presumed heterogeneity of etiology of hypogonadism in the XY, hypogonadal group.
A family with pseudodeficiency of acid α‐glucosidase
Authors: Nishimoto Junji , Inui Koji , Okada Shintaro , Ishigami Wataru , Hirota Setsuo , Yamano Tunekazu , Yabuuchi Hyakuji
Published: July 2010

A unique family is presented which consists of a patient with the juvenile muscular dystrophy form of glycogenosis type II and four healthy individuals, both parents and sisters, with low acid ***α‐glucosidase activity. It was almost impossible to distinguish the homozygote from the heterozygous members by lymphocyte assay alone. In cultured skin fibroblasts, acid α‐glucosidase activity measured with a synthetic substrate was less than 1% of the normal mean value in the patient and about 15% in the parents. The activity toward glycogen was not detectable in the patient and was about 30% of the normal mean value in the parents. These values are also lower than expected in heterozygotes. To explain these results properly, a new mutant allele of acid α‐glucosidase is proposed. Both parents could be compound heterozygotes for the pseudodeficiency allele and the juvenile form of glycogenosis type II allele.
An evaluation of reinforcement of genetic counselling on the consultand
Authors: Curtis Diana , Johnson Margaret , Blank C. E.
Published: July 2010

This project studied the effect of reinforcement of genetic counselling in the home, on consultand recall of information discussed in the clinic. Acceptable recall was observed in 84% of 227 patients scored for recall of rate of recurrence, understanding of the nature of the disease at special risk and of its mechanism of origin. Our results show no significant difference in the frequency of acceptable recall after reinforcement of genetic counselling compared with an absence of reinforcement. The consultands' understanding was substantially affected by the type of genetic mechanism involved.
Mental retardation, macrocephaly, short stature and craniofacial dysmorphism in three sisters: A new entity among the mental retardation‐macrocephaly syndromes?
Authors: Fryns J. P. , Dereymaeker A. M. , Haegeman J. , van den Berghe H.
Published: July 2010

In this report we describe a true macrocephaly‐mental retardation syndrome in three sisters. In addition, they present a distinct craniofacial dysmorphism with coarse facial features. Further family investigation revealed a similar macrocephaly in the mother and her father, suggesting autosomal dominant transmission of this familial macrocephaly. Present knowledge of the nosology of the mental retardation‐macrocephaly association is reviewed and discussed.
Partial monosomy 6q(q15q21) by de novo interstitial deletion
Authors: Glover G. , López I. , Gabarrón J. , Carmona J. A.
Published: July 2010

A partial monosomy 6q derived from a de novo 6q (q15q21) deletion, was seen in an infant male with mental retardation, odd facies and feeding difficulties.
Isolated “clinical anophthalmia” in an extensively affected Arab kindred
Authors: Kohn Gertrude , Shawwa Raghda El , Rayyes Eyyas El
Published: July 2010

A highly inbred kinship is described, in which 19 individuals were afflicted with bilateral profound microphthalmia without associated anomalies and with normal intelligence. Autosomal recessive inheritance is demonstrated. This kindred is instructive for genetic counseling since the affected individuals always have bilateral microphthalmia in the absence of other affected organ systems.
Niemann‐Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification: A collaborative study on 70 patients
Authors: Vanier Marie T. , Wenger David A. , Comly Marcella E. , Rousson Robert , Brady Roscoe O. , Pentchev Peter G.
Published: July 2010

Seventy patients were selected to cover the range of variability in clinical expression of Niemann‐Pick disease group C (NP‐C). Their individual main clinical features and course of the disease (age at discovery and type of visceromegaly, age at onset and first neurological manifestation, later neurological symptoms) are schematically described. In cultured skin fibroblasts from these patients, sphingomyelinase activities measured in vitro showed decreased values only in approximately half of the cases, and when the metabolic fate of [14C]‐sphingomyelin was studied in living cell cultures, still 20% of the cases had a normal hydrolysis rate. Esterification of exogenous cholesterol was investigated in cell lines from these and 5 additional patients and in 21 of their parents. Using a non‐lipoprotein [3H]cholesterol source, very low esterification rates were obtained in more than 90% of the cases. All the numerous other pathological conditions studied, including Niemann‐Pick disease types A and B, gave normal results. A more sensitive method was elaborated, in which the cells were challenged with pure human low density lipoproteins (LDL) and the early rate of esterification studied. With the latter procedure, a pronounced deficiency could also be demonstrated in the few cases which had shown a milder impairment using a [3H]cholesterol source, and intermediate rates of esterification were obtained in heterozygotes. Discrimination of these difficult cases and of heterozygotes could also be achieved replacing LDL with total unfrozen human serum. Correlations were established between given clinical phenotypes and the severity of the biochemical lesion. Defective intracellular cholesterol esterification is further established as an intrinsic feature of NP‐C, and demonstration of this metabolic alteration appears as a major advance in diagnosing the condition.
Partial 6p trisomy associated with infantile autism
Authors: Burd Larry , Martsolf John T. , Kerbeshian Jacob , Jalal S. M.
Published: July 2010

Partial trisomy 6p with duplications ranging from 6p21 to 6p25–pter is emerging as an established syndrome. We report a case of duplication of 6p (6p23–pter) and deletion of 2q37–qter. Features characteristic of 6p partial trisomy present in the patient are low birth‐weight, and mental and developmental retardation. Major facial features include prominent forehead, flat occiput, multiple ocular abnormalities, low‐set ears, prominent nasal bridge, long philtrum and small pointed mouth. Repeated examinations of the patient from birth to the age of over 5 years revealed that he has infantile autism. Since autistic children are generally not associated with chromosome anomalies, in view of the present case, it is suggested that karyotypic analysis be considered for such children. Where possible, extended study for autism in 6p trisomic children may also be desirable.
Enzyme replacement in Fabry endothelial cells and fibroblasts: uptake experiments and electron microscopical studies
Authors: Hasholt L. , Wandall A. , Sørensen S. A.
Published: July 2010

Endothelial cells are of particular interest for therapeutic strategies in Fabry's disease, because the accumulation of glycosphingolipids in the vascular endothelium as a result of α‐galactosidase A (α‐galA) deficiency is responsible for the major clinical manifestations of the disease. Electron microscopical observations of cultured endothelial cells obtained from the umbilical vein of a hemizygous Fabry fetus showed that the glycosphingolipids are deposited as lamellar material in the lysosomes, as has been found previously for cultured fibroblasts and many different tissues. Mannose 6‐phosphate (man 6‐P)‐receptor mediated and Concanavalin A (ConA)‐mediated uptake of purified α‐galA was attempted in the endothelial cells as well as in cultured fibroblasts from the same fetus. Our results on high‐uptake α‐galA indicate that the endothelial cells do not internalize α‐galA via the man 6‐P receptor. Immunofluorescence studies after addition of the receptor antibody to the cells support the theory that they have no or very few man 6‐P receptors on the surface. Morphological studies did not show lysosomal changes which could suggest that the enzyme is taken up into the endothelial cells; however, we found reproducible modifications of the lysosomes in Fabry fibroblasts after incubation with high‐uptake α‐galA. Cell‐associated α‐galA activity was found in both cell types, when the enzyme was added to cells preincubated with ConA; but the lectin treatment by itself induced considerable ultrastructural changes in the cytoplasm, which obscured a possible effect by the enzyme.
Mixed hearing loss in Larsen Syndrome
Authors: Stanley Christopher S. , Thelin James W. , Miles Judith H.
Published: July 2010

A mixed bilateral hearing loss is described in a child with classical Larsen syndrome. The presence of a residual conductive loss after successful placement of ventilating tubes suggests that the conductive loss is due to an ossicular abnormality. In Larsen syndrome, characterized by multiple joint dislocations and bony malformations, the ossicular joints may also be affected.
The 49,XXXXY syndrome. Clinical and psychological follow‐up data
Authors: Borghgraef M. , Fryns J. P. , Smeets E. , Marien J. , van den Berghe H.
Published: July 2010

In this report we give a detailed description of the clinical and psychological follow‐up data of three young 49,XXXXY males, paying special attention to changes in intellectual performance and behaviour at different ages.
Familial congenital fiber type disproportion (CFTD) with an autosomal recessive inheritance
Authors: Jaffe Michael , Shapira Jehuda , Borochowitz Zvi
Published: July 2010

Two siblings, born to healthy non‐consanguineous parents, were found to be affected with congenital progressive severe myopathy. Muscle biopsy revealed fiber type disproportion with no other histological abnormalities, thus confirming the diagnosis of congenital fiber type disproportion and suggesting an autosomal recessive mode of inheritance. This, to our knowledge, is the first reported family in which a strict histological diagnosis of congenital fiber type disproportion has been made and an autosomal recessive mode of inheritance shown.
Genotyping of cystic fibrosis families with linked DNA probes
Authors: Curtis Ann , Strain Lisa , Brock David J. H.
Published: July 2010

Forty‐six British families, containing at least one child affected with cystic fibrosis, were typed for restriction fragment length polymorphisms (RFLPs) by the probes pmet H, pmet D, pJ3.11 and 7c22. Thirty‐five (76%) were fully informative for prenatal diagnosis and carrier detection, while in the remainder prenatal exclusion of an affected fetus could be carried out in half the pregnancies. The frequencies of individual alleles did not differ between cystic fibrosis and normal chromosomes. However, the previously noted excess of one haplotype on chromosomes carrying the cystic fibrosis gene was confirmed.
De novo 3q/7q translocation and associated interstitial 7q35 deletion
Authors: Fryns J. P. , Kleczkowska A. , van den Berghe H.
Published: July 2010

In the present report we describe a severely mentally retarded and dysmorphic female child with a de novo 3q/7q reciprocal translocation and loss of band 7q35. This finding supports the hyothesis that the occurrence of mental retardation and/or congenital malformations in de novo autosomal reciprocal translocation may be due to the loss of a small amount of chromatin material during this chromosomal rearrangement.
Female haemophilia A in a family with seeming extreme bidirectional lyonization tendency: abnormal premature X‐chromosome inactivation?
Authors: Ingerslev Jørgen , Schwartz Marianne , Lamm Lars U. , Kruse Torben A. , Bukh Anne , Stenbjerg Stener
Published: July 2010

We studied a female child with mild classical haemophilia A, presenting with a F VIII deficiency similar to that detected in her maternal grandfather. Investigations on several occasions showed that the obligate carrier mother of the proposita had normal VIII:C activity, whereas her likewise obligate carrier sister had a typical carrier VIII:C/vWf:Ag pattern. The child was a phenotypically normal female with normal karyotype. Her father had no clinical or biochemical signs of haemophilia A. RFLP‐analysis using DX13 and St14 probes each elicited one allele (5.8 and 3.4 kb, respectively) segregating along with the affected F VIII gene from the hemizygous grandfather to both his daughters and further to the haemophilic female child. The paternity of the child was analyzed using various red cell and HLA antigens and RFLP by p29C, a probe detecting polymorphic hypervariable TaqI and PstI fragments in the pseu‐doautosomal areas of the X‐ and Y‐chromosomes. All results obtained were concordant with the declared paternity. RFLP‐analysis, using single (Pst I) and double digestion (Pst I/Hha I) of DNA and a PGK probe, revealed a remarkable difference in hybridization fragments, strongly suggesting hypermethylation, and in consequence, preferential X‐chromosome inactivation in the proposita. This points to extreme lyonization as the most plausible explanation for haemophilia A in this female child. A familial tendency to abnormal premature X‐chromosome inactivation is speculated.
X chromosome instability associated with familial Turner syndrome
Authors: Tyrkus M. , Hoffman W. H. , Kraemer‐Flynn K. M.
Published: July 2010

A family with two members (two generations) exhibiting Turner syndrome is described. Cytogenetic studies on these individuals showed the presence of multiple X chromosome changes. Evidence is presented to show that the maternally inherited X chromosome is the chromosome involved in the structural alterations observed. The effect of a tendency of the maternal X chromosome to break at specific sites on the development of the Turner phenotype and abnormal karyology is discussed.
Autosomal dominant lamellar ichthyosis exhibits an abnormal scale lipid pattern
Authors: Melnik B. , Küster W. , Hollmann J. , Plewig G. , Traupe H.
Published: July 2010

Autosomal dominant lamellar ichthyosis (ADLI) is a recently recognized genetic skin disorder. Clinically and histologically, it cannot be distinguished with certainty from the more frequent autosomal recessive lamellar ichthyosis (ARLI), which in itself may still be heterogeneous. By ultrastructural examination of ADLI a prominent transforming zone between the stratum granulosum and stratum corneum and lipid inclusions in the stratum corneum have been observed. Using sequential high‐performance thin‐layer chromatography, we studied the plantar scale lipid pattern of two patients, mother and daughter, affected with ADLI. We found a distinctive alteration in the relative composition of the scale lipid pattern characterized by excessive amounts of free fatty acids, triglycerides, elevated n‐alkanes, reduced free sterols and decreased total ceramides. This scale lipid profile clearly differs from that of the erythrodermic and non‐erythematous variants of ARLI and confirms that this disorder is a distinct entity of the heterogeneous group of lamellar ichthyoses.
3C syndrome: third occurrence of cranio‐cerebello‐cardiac dysplasia (Ritscher‐Schinzel syndrome)
Authors: Verloes A. , Dresse M.‐F. , Jovanovic M. , Dodinval P. , Geubelle F.
Published: July 2010

We report a child with an unusual pattern of malformations: severe delay in bone maturation, wide fontanelles and facial dysmorphism (evoking cleidocranial dysplasia), relative macroencephaly with cerebellar vermis hypoplasia, hypertelorism, skeletal abnormalities (1st ribs aplasia, multifocal sternal ossification centers, thin bones), septal defect, muscular waste, hypotonia and developmental delay. Most of these features have been reported previously by Ritscher, Schinzel et al. in two sibs, who suffered more severe cerebellar malformations (Dandy‐Walker cyst or vermis aplasia). We propose 3C syndrome as an easy acronym for this Cranio‐Cerebello‐Cardiac dysplasia.
Non‐mosaic trisomy 20 in amniotic fluid cultures with minor anomalies in the fetus
Authors: Myers T. L. , Prouty L. A.
Published: July 2010

A non‐mosaic trisomy 20 was discovered in all cells in two separate cultures from an age‐related genetic amniocentesis. Karyotypes of cells obtained via amniocentésis at the time of termination and of cells cultured from the placenta gave the same unambiguous results. However, the fetus, under macro‐ and microscopic analysis, showed only two minor anomalies: left simian crease and low‐set ears. These findings are more suggestive of a normal or at most mosaic trisomy 20 state. The significance of this finding for prenatal diagnosis is discussed.
Two other cases of ANOTHER syndrome? Family report and update
Authors: Pinheiro Marta , Penna Francisco José , Freire‐Maia N.
Published: July 2010

We describe one daughter of a possibly distant consanguineous couple with infantile hypothyroidism, trichodysplasia, dental anomalies, dystrophic nails, skin alterations, otitis media, slight conductive hypoacusia, recurrent respiratory tract infections, and gastroenterologic problems. One of her two sisters presents dental anomalies and trichodysplasia, and had dry skin at birth. Similarity indexes are estimated for our patients in comparison with those described under the acronym ANOTHER syndrome. It is concluded that, in spite of the differences, it is possible that our two patients also present ANOTHER syndrome. The cause is unknown.
Sjögren‐Larsson syndrome in Sweden: distribution of the gene
Authors: Iselius L. , Jagell S.
Published: July 2010

The distribution of carriers of the gene for Sjögren‐Larsson syndrome in Sweden suggests a center of dispersion in the county of Västerbotten in Northern Sweden. The origin of the spread of the gene can be traced back at least 700 years.