bluuebunny/crossref_metadata_2025 huggingface dataset:
Major locus for red hair color linked to MNS blood groups on chromosome 4
Authors: Eiberg Hans , Mohr Jan
Published: July 2010

Red hair color (RHC) was studied in a Danish material of normal families that was tested earlier for 65 marker Systems. We found 4.85% of the parents to be red‐baired or to have been so early in life. Scoring RHC for linkage as an autosomal dominant against blond and as hypostatic to dark hair gave a lod score of z=5.50 at=0.05 in maies and=0.24 in females for the MNS blood group System; this assigns a major locus for red hair to chromosome 4.
Fragile (X) syndrome: a study of the psychological profile in 23 prepubertal patients
Authors: Borghgraef M. , Fryns J. P. , Dlelkens A. , Pyck K. , Berghe H. Van Den
Published: July 2010

In this study a further analysis of the psychological profile in the prepubertal fragile (X) (fra(X)) male was performed. The results of the psycho‐diagnostic examination of 23 fra(X) boys were compared to a control group of 17 males of the same age with ‘non‐specific’ mental retardation. A number of important quantitative and qualitative differences were observed between the two groups. In the preschool age group the majority of fra(X) boys was mildly mentally retarded. In the school‐age group, however, most boys were moderately to severely mentally retarded. This indication of a decline in intellectual performance with age in the fra(X) syndrome was confirmed by a longitudinal individual follow‐up of seven fra(X) boys in this age group. In contrast to intellectual performance, appearance of the attention deficit disorder (or hyperkinesis), with its attendent overactivity and impulsiveness, decreases with age, and is independent of the intellectual level. Autistic behaviour was more frequently observed in the youngest fra(X) males, and was more pronounced in the moderately mentally retarded. In more than 50% of the boys of preschool age the association of hyperkinesis and autistic features was found. Language and speech development in the fra(X) syndrome is both symptomatic and specific. Beside a severe, global speech retardation, there are some distinct speech characteristics in the young fra(X) males such as rapid speech rhythm, speech impulsiveness and perseverative speech.
6q1 monosomy: a distinctive syndrome
Authors: Turleau Catherine , Demay Gérard , Cabanis Marie‐Odille , Lenoir Gérard , de Grouchy Jean
Published: July 2010

A female infant with a de novo del 6q14q16.2 and five other patients with del 6q1 reported in the literature allow the delineation of a characteristic syndrome, the main features of which are: severe mental retardation, a round face with full cheeks, upslanting palpebral fissures, a short neck, umbilical hernia, malpositioned feet with syndactyly II‐III, and typical dermatoglyphics with an excess of whorls and clinodactyly of the Vth finger.
Haplotype analysis of classical and mild phenotype of phenylketonuria in the German Democratic Republic
Authors: Herrmann F. H. , Wulff Karin , Wehnert M. , Seidlitz G. , Güttler F.
Published: July 2010

The restriction fragment length polymorphism (RFLP)‐haplotypes have been analysed in 16 families from the northern part of the GDR at risk for classical and mild phenylketonuria (PKU). Ten different RFLP haplotypes associated with the normal and mutant phenylalanine hydroxylase (PAH) alleles were identified. Of the 32 mutant alleles analysed, 29 (90.6%) were associated with haplotypes 1, 2, 3 and 4; 53.1% of the mutant alleles were linked with haplotype 2. The distribution of RFLP haplotypes in 16 patients of clinical different PKU phenotypes (classical and mild) is reported.
A new family with the Townes‐Brocks syndrome
Authors: de Vries‐Van der Weerd M‐A. C. Simone , Willems Patrick J. , Mandema Han M. , ten Kate Leo P.
Published: July 2010

We describe a new family with the Townes‐Brocks syndrome, a dominantly inherited syndrome of anal, urorenal, ear and limb malformations. The proband shows the full spectrum of anomalies, including imperforate anus, prominent perineal raphe, rectoperineal fistula, triphalangeal thumb, preaxial hexadactyly, syndactyly, clinodactyly, preauricular protuberances, hypoplastic satyr ears, sensorineural hearing loss and urorenal anomalies. In contrast, the father shows only limb anomalies, sensorineural hearing loss and renal anomalies. Anorectal malformations, which are present in almost every patient with the Townes‐Brocks syndrome, were absent in the father. This case report illustrates the intrafamilial variability of the Townes‐Brocks syndrome. Consequently, careful examination of relatives of patients with this syndrome is necessary for the differential diagnosis with the sporadically inherited VA(C)TER(L) association.
Consanguineous marriages in the Turkish population
Authors: BaŞaran N. , Şayli B. S. , BaŞaran A. , Solak M. , Artan S. , Stevenson J. D.
Published: July 2010

This study of 55 175 marriages in Turkey, conducted from 1970 to 1987, showed an overall rate of consanguineous marriage of 21.21% (mostly first‐cousin liaisons) and an inbreeding coefficient of 0.0064532. However, considerable differences between areas are apparent.
EEC syndrome sine sine?
Authors: Majewski F. , Küster W.
Published: July 2010

We report a family with oligosymptomatic EEC syndrome. Whereas the mother had most symptoms of this syndrome, one son presented a minimal ectrodactyly and a highly arched palate and one daughter showed only a unilateral stiff thumb. The variability of this syndrome is discussed. The penetrance of this dominantly inherited disorder is judged to be reduced to about 78%.
Monosomy, trisomy, fragile sites, and rearrangements of chromosome no. 1 in a mentally retarded male with multiple congenital anomalies
Authors: Neu R. L. , Kousseff B. G. , Madan S. , Essig Y.‐P. , Miller K. , Tedesco T. A.
Published: July 2010

A 17‐year‐old male was referred for evaluation because of short stature and severe mental retardation. Major clinical findings included microphthalmia, micrognathia, low‐set ears, a prominent beaked nose, clubbing of digits, and premature greying of hair. Cytogenetic analysis revealed a 45,XY, ‐1/46,XY/47,XY,+1 mosaicism in lymphocyte cultures, a 45,XY, ‐1/46,XY mosaicism in skin fibroblasts, and fra(lp) sites in 2% of the metaphases from lymphocyte, fibroblast and bone marrow cultures. Post‐zygotic non‐disjunction causing this mosaicism is believed to be responsible for the patient's phenotype.
A patient with an interstitial deletion of the short arm of chromosome 6
Authors: van Swaay E. , Beverstock G. C. , van de Kamp J. J. P.
Published: July 2010

The clinical history and subsequent progress of a child with an interstitial deletion in the short arm of chromosome 6 is described. This abnormality coupled with a reduced Hageman factor (Factor XII) led to an earlier publication which suggested that this gene was localised to the breakpoint region involved. A review of similar phenotypes from the literature is presented.
Germinal mosaicism in Crouzon syndrome
Authors: Rollnick B. R.
Published: July 2010

Two brothers with Crouzon craniofacial dysostosis syndrome born to normal unrelated parents are described. Paternity studies show the probability of paternity is 99.6%. This report appears to represent the first example of germinal mosaicism in Crouzon syndrome.
Diagnosis of familial amyloidotic polyneuropathy in Sweden by RFLP analysis
Authors: Holmgren Gösta , Holmberg Eva , Lindström Anita , Lindström Eleonor , Nordenson Ingrid , Sandgren Ola , Steen Lars , Svensson Birgitta , Lundgren Erik , von Gabain Alex
Published: July 2010

Genomic DNA from 17 Swedish patients with familial amyloidotic polyneuropathy (FAP), and 50 healthy controls were tested with a cDNA transthyretin probe. In seven of the patients, FAP was not reported in either of their parents. All 50 controls showed restriction fragments of 6.6 kb and 3.2 kb after cleavage with Nsil, while the 17 FAP patients showed RFLP markers of 5.1 and 1.5 kb. These observations indicate the same methionine for valine substitution at position 30 in Swedish patients with FAP as seen in patients with FAP from Japan, Portugal and FAP‐patients of Swedish descent from USA. However, the mean onset of FAP symptoms for the 17 Swedish patients was found to be significantly later than for the patients from Japan, Portugal and USA.
Con A non‐reactive fractions of human amniotic fluid alpha‐fetoprotein in prenatal diagnosis of fetal neural tube defects and fetal abdominal wall defects
Authors: Toftager‐Larsen Kim , Nørgaard‐Pedersen Bent
Published: July 2010

During a 6‐year period 19647 consecutively received amniotic fluid samples were analyzed for the alpha‐fetoprotein (AFP) concentration. In samples with an AFP concentration above the 95% upper normal limit the fraction of AFP non‐reactive with concanavalin A (con A) was determined by crossed affinity immunoelectrophoresis. Of 436 samples from normal pregnancies with a moderate elevation of AFP (between the 95% limit and 2.5 times the median) the con A fraction was normal in 92 to 98% of the cases, depending on the gestational age. At significantly elevated AFP concentrations (above 2.5 times the median), the fractions were normal in 78% of the 50 cases with a normal outcome. In 80 of 89 cases of fetal malformations, abnormally low fractions were found, and in all 19 cases of abdominal wall defects and congenital nephrosis the fractions were low. No significant difference was found in the sensitivity for detection of fetal malformations by con A analysis compared to quantitative analysis for acetylcholinesterase (AChE). However, significantly more false positive results were found in normal pregnancies for the con A analysis compared to the AChE analysis. Both analyses performed significantly better than ultrasound scanning in terms of sensitivity. It is concluded that AChE is the test of choice in prenatal diagnosis of fetal neural tube defects. However, a sensitivity of 1.00 and a predictive value of a negative test of 1.00 were found for the con A analysis for fetal abdominal wall defects. The AchE analysis performed less well in this context.
Growth disadvantage of 45,X and 46,X,del (X) (p11) fibroblasts
Authors: Verp Marion S. , Rosinsky Barbara , Le Beau Michelle M. , Martin Alice O. , Kaplan Randi , Wallemark Carl‐Bertil , Otano Lucas , Simpson Joe Leigh
Published: July 2010

We have previously shown that cell generation time (CGT) is prolonged in 45,X and certain X‐deletion fibroblast lines (Simpson & Le Beau 1981). A consequence of that finding should be that cells with 45,X or an X‐structural abnormality are at a competitive disadvantage when cocultivated with 46,XX cells. To test this hypothesis we prepared 15 mixtures of cells from combinations of 9 different cell lines: four 45,X; one 46,Xdel(X)(p11); and four 46,XX. Each culture was monitored cytogenetically at frequent passage intervals for the percentage of the two cell lines. Significant differences were found between normal and abnormal lines in culture predominance, in the order predicted by our hypothesis (p<0.01). The specific mechanism by which absence of an X chromosome confers growth disadvantage is unknown, but is consistent with prolongation of CGT. Prolongation of CGT could also be responsible for the embryonic lethality, intrauterine growth retardation, short stature, and somatic anomalies commonly observed in individuals with absent or aberrant X chromosomes.
Distal trisomy of chromosome 17q due to inverted tandem duplication
Authors: Shimizu Toshiaki , Ikeuchi Tatsuro , Shinohara Tamiko , Ohba Satoru , Miyaguchi Hideki , Akiyama Tadashi , Shibata Takashi
Published: July 2010

A female infant with distal trisomy 17q is described. The anomaly resulted from a de novo inverted duplication of the 17q2405→q25.3 region as defined by high‐resolution banding. The proband's overall clinical picture was in good agreement with those of previously reported cases of partial trisomy 17q. The phenotypic features relatively common to our and other reported cases, included mental and growth retardation, microcephaly, temporal retraction, blepharophimosis, saddle nose, thin upper lip, down‐turned corner of the mouth, high‐arched palate, low‐set and deformed ears, webbed neck and lowered posterior hairline. A unique feature of the present case was systemic hirsutism.
Aarskog syndrome in a Danish family: an illustration of the need for dysmorphology in paediatrics
Authors: Nielsen Karen Brøndum
Published: July 2010

The first Danish case of Aarskog syndrome is reported. The child had attended several specialized out‐patient clinics before the diagnosis was suggested. This underlines the need for dysmorphology in paediatrics.
16q21 is critical for 16q deletion syndrome
Authors: Naritomi K. , Shiroma N. , Izumikawa Y. , Sameshima K. , Ohdo S. , Hirayama K.
Published: July 2010

A 1‐year‐old girl with an interstitial deletion of the long arm of chromosome 16 is reported. She was characterized by a distinct craniofacial dysmorphism, meningoencephalocele, mild hydrocephalus, short neck, broad great toes and abnormally positioned toes. High resolution GTG and RBG banding analyses revealed a karyotype: 46,XX,del(16) (q13q22) de novo. An analysis of the smallest region of overlap revealed that the critical band region for 16q deletion syndrome is 16q21.
Heterogeneity of dominant high‐frequency sensorineural deafness
Authors: Higashi Koichiro
Published: July 2010

There are several types of autosomal dominantly inherited sensorineural hearing loss (AD‐SNHL), differentiated by audiograms. It is generally accepted that there are similarities in audiograms among members of the same family with dominant deafness. It has been supposed that AD‐SNHL must be divided into several types according to their audiograms or clinical courses. Eighteen families with AD‐SNHL are dealt with in this study. By measuring the slope of audiograms and superimposing audiograms, AD high‐frequency sensorineural hearing loss can be divided into four types. The first type has the steepest audiograms, the second has somewhat less steep audiograms, the third has gently sloping audiograms, and the fourth has audiograms close to horizontal. In each type “The audiograms breed true”, i.e. the audiograms even of members of different families having the same type do not overlap within the limits of error in audiometry. These four types of dominant high‐frequency sensorineural deafness appear to be discrete clinical entities.
A linkage study of the locus for X‐linked Charcot‐Marie‐Tooth disease
Authors: Goonewardena P. , Welihinda J. , Anvret M. , Gyftodimou J. , Haegermark A. , Iselius L. , Lindsten J. , Pettersson U.
Published: July 2010

A large family with Charcot‐Marie‐Tooth disease, showing a probable X‐linked incomplete dominant inheritance, was studied by linkage analysis. Results, obtained by the use of X chromosome specific DNA probes of known regional location, suggest that the disease locus is linked to the DXYS1 locus (ž=2.59 at θ= 0.00) and to the DXS14 locus and, places the disease locus between the DXYS1 locus and the DXS14 locus, near the centromere of the X chromosome. Together with the published data, a distance of 13 cM (ž= 6.95) was assessed between the disease locus and the DXYS1 locus.
Regular trisomy 21 not accompanied by increased copper‐zinc superoxide dismutase (SOD1) activity
Authors: Jeziorowska Anna , Jakubowski Lucjusz , Lach Joanna , Kaluzewski Bogdan
Published: July 2010

The Cu‐Zn superoxide dismutase (SOD1) activity was estimated in red blood cells in children with regular trisomy 21. We report patients displaying typical Down syndrome clinical features and with SOD1 activity in the normal range.
Genetic heterogeneity between two clinical forms of cystic fibrosis evidenced by familial analysis and linked DNA probes
Authors: Mornet E. , Simon‐Bouy B. , Serre J. L. , Muller F. , Taillandier A. , Martinez M. , Boue J. , Boue A.
Published: July 2010

CF heterogeneity has been evidenced from both clinical and genetic observations. At least two clinical forms of CF are easily distinguishable: CF with meconium ileus and CF without meconium ileus. The results of prenatal diagnosis have shown that the recurrence rates of CF are different in these two clinical forms. Molecular analysis of Restriction Fragment Length Polymorphisms (RFLPs) tightly linked to the cystic fibrosis (CF) gene defined several types of CF and normal chromosomes in a French sample of 64 families with CF. The CF mutation is tightly linked to one XV‐2C and KM19 RFlPs haplotype but is differently linked to J3.11 RFLP alleles, depending on whether or not the clinical form of CF is associated with ileus. A distortion of the segregation ratio observed between normal and CF haplotypes in the families with ileus could explain the high recurrence rate of CF in such families.
Birth prevalence rates of skeletal dysplasias
Authors: Stoll Claude , Dott Beatrice , Roth Marie‐Paule , Alembik Yves
Published: July 2010

This study establishes the prevalence rates at birth of the skeletal dysplasias which can be diagnosed in the perinatal period or during pregnancy. Using a population‐based register of congenital anomalies, a prevalence rate of 3.22 0/000 was observed. The most frequent types of skeletal dysplasia were achondroplasia and osteogenesis imperfecta (0.64 0/000, 1/15 000 births), thanatophoric dysplasia and achondrogenesis (0.28 0/000). The mutation rate for achondroplasia was higher in our material than in the other studies: 3.3 times 10‐5 per gamete per generation. Our study demonstrates that prenatal diagnosis by ultrasound is possible in some skeletal dysplasias.
X‐linked spastic paraplegia: evidence for homogeneity with a variable phenotype
Authors: Goldblatt Jack , Ballo Robea , Sachs Brenda , Moosa Allie
Published: July 2010

Hereditary spastic paraplegia (HSP) is rarely inherited in an X‐linked recessive mode in pure and complicated forms. Recently, molecular linkage studies have suggested that these variant X‐linked HSP conditions result from locus heterogeneity. In this paper we report on the clinical and linkage analysis of a kindred with complicated X‐linked HSP. The finding in this family of a map location of the putative HSP gene in the same region as that documented for the pure HSP gene provides evidence that allelic mutations might also be responsible for the variable phenotype encountered in these X‐linked disorders.
Hutchinson‐Gilford progeria syndrome: report of a Libyan family and evidence of autosomal recessive inheritance
Authors: Khalifa M. M.
Published: July 2010

A Libyan family with the Hutchinson‐Gilford progeria syndrome affecting three children of two sisters is described. The proband was ascertained because of repeated unhealing fractures. The pattern of inheritance appeared autosomal recessive.
Tuberous sclerosis and the relation with renal angiomyolipoma. A genetic study on the clinical aspects
Authors: van Baal J. G. , Fleury P. , Brummelkamp W. H.
Published: July 2010

Renal angiomyolipomas were present in 23 out of a series of 38 patients with proven tuberous sclerosis (60.5%). Multiplicity and bilateral localization of combined renal angiomyolipomas were important differences between this category and the isolated, usually solitary, angiomyolipomas. One of the parents of a patient with tuberous sclerosis had small renal angiomyolipomas without signs of tuberous sclerosis. This indicates that renal angiomyolipomas might be a forme fruste of tuberous sclerosis. Two patients with suspected isolated renal angiomyolipomas proved to have tuberous sclerosis. From this study we can conclude that multiple angiomyolipomas, or a combination of a single renal hamartoma with one of the signs suggestive of tuberous sclerosis, warrant a thorough examination to exclude tuberous sclerosis.
Fryns syndrome: report on 8 new cases
Authors: Aymé S. , Julian C. , Gambarelli D. , Mariotti B. , Luciani A. , Sudan N. , Maurin N. , Philip N. , Serville F. , Carles D. , Rolland M. , Giraud F.
Published: July 2010

The name Fryns syndrome was given to a new variable multiple congenital anomaly syndrome, almost always lethal, described in 1978, and now known to be autosomal recessive. Since that date, 20 patients have been reported in the literature. We describe 8 new cases, 6 of which were diagnosed in a series of 112276 consecutive births (livebirths and perinatal deaths). The prevalence of this syndrome can be estimated to be around 0.7 per 10000 births. These new cases confirm that the most frequent anomalies are diaphragmatic defects, lung hypoplasia, cleft lip and palate (often bilateral), cardiac defects (septal defects and aortic arch anomalies), renal cysts (type II, III or IV), urinary tract malformations, and distal limb hypoplasia. Most patients also have hypoplastic external genitalia and anomalies of internal genitalia (bifid or hypoplastic uterus, immature testes). The digestive tract is also often abnormal: duodenal atresia, pyloric hyperplasia, malrotation and common mesentery are present in half of the patients. When the brain was examined, more than half were abnormal (Dandy‐Walker anomaly and agenesis of corpus callosum). A few patients demonstrated cloudy cornea. We examined the eyes of three patients histologically: two of them showed retinal dysplasia with rosettes and gliosis of the retina, thickness of posterior capsula of lens and irregularities of the Bowman membrane. Four of our cases were diagnosed prenatally between 24 and 27 weeks. It is to be expected that prenatal diagnosis will be made often and earlier in the future, as the spectrum of anomalies of the Fryns syndrome can easily be evidenced by sonography.
Autosomal dominant inheritance in familial angiolipomatosis
Authors: Kumar Ramesh , Pereira Brian J. G. , Sakhuja V. , Chugh K. S.
Published: July 2010

A patient with familial angiolipomatosis in whom an autosomal dominant mode of inheritance could be established is described. This patient also had coincidental autosomal dominant polycystic kidney disease.
Molecular deletions in the Duchenne/Becker muscular dystrophy gene
Authors: Hart Kevin A. , Abbs Stephen , Wapenaar Martin C. , Cole Charlotte G. , Hodgson Shirley V. , Bobrow Martin
Published: July 2010

To gain further information relating to the frequency, position and size of DNA deletions in the Duchenne/Becker muscular dystrophy (D/BMD) gene region, and to detect any correlation of these deletions with phenotype, a large clinic‐based population of DMD and BMD patients has been investigated using 13 cloned intragenic sequences. Out of 263 separate patients studied, 75 showed a deletion of at least one locus (28.5%). These represented 25.6% (55/215) of DMD patients and 41.7% (20/48) of BMD patients, suggesting that the milder phenotype is more often likely to be due to a deletion. The deletions range from 6 kilobases (kb) to > 1000 kb in size. The distribution of deletions across the gene region shows at least one region (detected by P20) prone to deletion mutations in both DMD and BMD patients. There is no simple correlation of position or extent of deletions with DMD or BMD, although deletion of a specific region towards the 5′ end of the gene may be more often associated with a milder phenotype. Apparently similar deletions can give rise to phenotypes differing significantly in severity, presumably indicating further complexities in the molecular or cellular pathology.
On the familial occurrence of congenital bilateral absence of vas deferens
Authors: Kleczkowska A. , Fryns J. P. , Steeno O. , van den Berghe H.
Published: July 2010

In this report we present the familial occurrence of congenital bilateral absence of vas deferens (CBAVD) in a 29‐year‐old, healthy and phenotypically normal male and in his maternal uncle. The incidence and the familial occurrence of CBAVD are reviewed and discussed.
Trisomy 5 mosaicism in amniotic fluid with normal outcome
Authors: Casamassima Anthony C. , Wilmot Patrick L. , Mahoney Maurice J. , Scott Robin V. , Shapiro Lawrence R.
Published: July 2010

A case of prenatally diagnosed true mosaicism for trisomy 5 with a clinically normal outcome is presented. Trisomy 5 was detected in 23% of cells obtained by amniocentesis, but it was not detected from cells obtained by fetal blood sampling. While in this case the finding at amniocentesis did not reflect the status of the fetus, care must be exercised in reaching this conclusion in all cases.
A new case of deletion 1q42 syndrome
Authors: Tolkendorf E. , Hinkel G. K. , Gabriel A.
Published: July 2010

We report a 1 8/12‐year‐old male with a de novo deletion of 1q42. The case is compared with 23 others from the literature. The clinical manifestations of our patient correspond with the phenotype of previous reports.
Trisomy 9q3 syndrome: a case report and review of the literature
Authors: Naritomi K. , Izumikawa Y. , Goya Y. , Gushiken M. , Shiroma N. , Hirayama K.
Published: July 2010

A girl with partial trisomy 9q is reported. She was characterized by dolichomorphism, abnormalities of the digits, a cardiac defect and craniofacial dysmorphism. A high‐resolution analysis revealed the karyotype to be: 46,XX,‐3,+der(3)t(3;9)(q29;q13) de novo. A phenotype‐karyo‐type correlation study in 22 cases of partial trisomies 9q supported the delineation of a trisomy 9q3 syndrome. The smallest region of overlap was confined to 9q32.
Genetic counseling in families with inherited balanced translocations: experience with 36 families
Authors: Wolff Gerhard , Back Elke , Arleth Sybille , Rapp‐Körner Uschi
Published: July 2010

We report on genetic counseling and investigations in 36 families with inherited balanced translocations ascertained in different ways, with special regard to the completeness and reasons for incompleteness of family investigation. Quantitative evaluation of the results of cytogenetic investigations shows that non‐directive genetic counseling was very effective in many families. Yet, in most of the families (34) genetic counseling and investigation remained incomplete in the sense that not all living potential translocation carriers could be counseled or investigated or that the origin of a fresh mutation could not be established by a normal karyotype in the parents of a carrier. Only in seven families could nearly all living potential carriers be counseled and investigated. The most frequent reason for incompleteness was the impossibility of transmitting or refusal to transmit information about the genetic risks to relatives (21 families), whereas direct rejection of investigation by a counseled individual was a rather rare event (18 adults). Families ascertained because of an unbalanced child seem to be more willing to transmit genetic information to relatives than families ascertained in other ways. Non‐directive genetic counseling gave us an insight into the emotional problems arising during counseling of translocation families.
Mosaic 47,XY, + 8/48,XXYY in a mentally non‐retarded man with phenotypical and neurological abnormalities
Authors: Hoovers J. M. N. , Oorthuys J. W. E. , de Visser M.
Published: July 2010

This report describes a non‐retarded human male, mosaic for a 47,XY, + 8 and a 48,XXYY cell line. The 47,XY, + 8 cell line is present in approximately 70% of both lymphocytes and skin fibroblasts; 30% of the cells in both tissues have a 48,XXYY karyotype. Clinical abnormalities correspond mostly with the mosaic trisomy 8 syndrome.
A pseudoisochromosome 18q and an isodicentric chromosome 18*
Authors: Floore Cynthia , Robertson Anne , Samuel Iris , Williamson Nancy , McLeod D. R. , Hoganson G. , Hoo J. J.
Published: July 2010

A case of pseudoisochromosome 18q of prezygotic origin and a case of isodicentric chromosome 18 of postzygotic origin are presented to validate the differentiation between a true isochromosome and a pseudoisochromosome. This differentiation may be useful in elucidating the mechanism of the origin of an isochromosome.
Ichthyosis with an unusual constellation of ectodermal dysplasias
Authors: Baden Howard P. , Imber Michael
Published: July 2010

A unique disorder characterized by ichthyosis and defects of the appendages and teeth is reported. Scaly skin and absence of sweating were observed shortly after birth. During childhood there was progressive loss of hair, severe abnormalities of dentition and dystrophic changes of the nails following minor trauma. The patient experienced corneal ulceration, and examination of the eyes revealed a reduced number of meibomian glands and changes in the cornea consistent with previous ulcers. Dryness of the mucous membranes of the mouth was also observed. There is no previous report of an individual with this constellation of changes.
The contribution of H LA to rheumatoid arthritis
Authors: Deighton C. M. , Walker D. J. , Griffiths I. D. , Roberts D. F.
Published: July 2010

The contribution of genes within the major histocompatability complex to rheumatoid arthritis has been calculated (Rotter & Landaw 1984). Separate data from hospital‐ and population‐based studies of monozygotic twin concordance rates and sibling recurrence risks have been used, along with material from published haplotype‐sharing studies. Using either source of information gives the same result, a contribution of 37%.
Increased frequencies of apolipoprotein ε2 and ε4 alleles in patients with ischemic heart disease
Authors: Eto M. , Watanabe K. , Makino I.
Published: July 2010

It has been demonstrated that the genetic polymorphism of apolipoprotein (apo) E is associated with atherosclerosis. Thus, in this study, we have examined the apo E allele frequencies in 109 patients with ischemic heart disease (IHD) and 576 Japanese people as controls, and we have compared these frequencies between patients with IHD and controls. The frequencies of the ε2 and ε4 alleles were significantly higher in patients with IHD than in the controls (ε2: 8.2% vs 3.7%, ε4: 17.0% vs 11.7%), whereas the frequency of the ε3 allele was significantly lower in patients with IHD than in the controls (74.8% vs 84.6%). The ε2‐carrying patients with IHD were characterized by type III (43.8%) and IV (25.0%) hyperlipoproteinemia (HLP), whereas the ε4‐carrying patients with IHD were characterized by hypercholesterolemia (type IIb HLP: 42.8%, type IIa HLP: 28.6%). It is concluded that both ε2 and ε4 alleles are more associated with IHD than the ε3 allele.
Hirschsprung's disease and Ondine's curse: further evidence for a distinct syndrome
Authors: Minutillo C.
Published: July 2010

Although Hirschsprung's disease is a relatively common congenital malformation, with an estimated incidence of about 1:5000, Primary Central Hypoventilation Syndrome (Ondine's curse) is exceedingly rare, with about 50 reported cases. We describe a patient with total colonic aganglionosis occurring together with failure of automatic control of respiration, specific facial dysmorphology and characteristic CT scan changes to substantiate further the syndromic nature of this association.
Tandem Y/6 translocation with partial deletion 6 (p23→pter)
Authors: Kelly Patrick C. , Blake W. Woods , Davis John R.
Published: July 2010

An infant with multiple malformations had a de novo tandem translocation of the Y chromosome to chromosome 6. The karyotype 45,X,tan(Y;6) (q12;p23) resulted in a partial monosomy of 6p23→pter. Many of the effects of ring chromosome 6 are present in this case.
Osteogenesis imperfecta: a genetic, radiological, and epidemiological study
Authors: Andersen Poul Erik , Hauge Mogens
Published: July 2010

The point prevalence at birth of osteogenesis imperfecta was estimated by a systematic search of all children born 1.1. 1970 to 31. XII. 1983 in the county of Fyn (Denmark). Additionally, the population prevalence on 31. XII. 1983 of all patients with osteogenesis imperfecta in this county was determined. The county is a well‐defined, representative subregion of Denmark which demographically comprises a cross‐section including about 9% of the Danish population. Altogether, the study disclosed 48 patients with osteogenesis imperfecta. Of these, 17 patients were born 1.1. 1970 to 31. XII. 1983 and 12 had type I, 2 had type II, 2 had type III, and 1 had type IV. Thus, the point prevalence at birth was 21.8/‐100 000 and the population prevalence was 10.6/100 000 inhabitans. There was great variation in the clinical manifestations within and between the types.
Inv(8)(p23q22) and recombinant derivative in a Sicilian family
Authors: Mattina T. , Conti L. , Milone G. , Marino S. , Sorge G.
Published: July 2010

A family with inv8(p23q22), in which one girl with a derivative chromosome 8 showed the characteristic phenotype, is reported. Our case differs from the 32 known families with inv8(p23q22), being the first of apparently non‐Hispanic descent. The anomaly may, however, have its origins in the Spanish domination of Sicily.
The prevention and management of autosomal recessive conditions. Main example: alpharantitrypsin deficiency
Authors: Gustavson Karl‐Henrik
Published: July 2010

In populations in which a particular autosomal recessive disorder is treatable and relatively common, and for which there is a simple diagnostic test, newborns can be screened and treated. For some disorders, such as α1‐AT, young people can be screened and given appropriate advice to ameliorate the future symptoms. For some severe common and non‐treatable autosomal recessive disorders, for example cystic fibrosis, carrier tests will probably soon be available for population screening of young people. Couples found to be carriers can then be offered prenatal diagnosis and termination of the pregnancy, in the fetus is affected. In the not‐too‐distant future the approaches will hopefully be treatment and correction of these disorders in the affected fetus or newborn.
Towards the prevention of neural tube defects
Authors: Brock David J. H.
Published: July 2010

The value of maternal periconceptional vitamin supplementation in preventing the conception of fetuses with neural tube defects has yet to be assessed in a properly designed study. Avoidance of the birth of affected infants continues to rest on second‐trimester maternal serum alphafetoprotein screening. The performance of screening programmes in achieving this objective is reviewed.
causing amyloid angiopathy and brain hemorrhage ‐ clinical genetics in Iceland
Authors: Jensson Olafur , Palsdottir Astridur , Thorsteinsson Leifur , Arnason Alfred
Published: July 2010

Firstly, we review investigations of hereditary cystatin C amyloid angiopathy, which is caused by a mutation in the cystatin C gene. Symptoms of brain haemorrhages, which lead to death in young adults, are the hallmark of this disorder. The mutation can now be detected by the RFLP method using Alu I restriction enzyme and cystatin C cDNA probe. Secondly, we give an overview of other clinical genetic studies in Iceland with emphasis on activities initiated or sponsored by the Genetical Committee of the University of Iceland. The list of references covers most publications on genetic studies of Icelanders.
Perception of burden among at‐risk women of raising a child with fragile‐X syndrome
Authors: Meryash David L.
Published: July 2010

On a self‐administered questionnaire 31 women at‐risk for bearing children with fragile‐X syndrome (FXS) were asked to judge the magnitude of the problems they perceived to be associated with raising an affected child. An age‐ and education‐matched group of women with no family history of FXS was asked to predict the seriousness of problems they might encounter were they to bear a child with a handicapping condition. Mothers of children with FXS reported that they were experiencing fewer and different problems than FXS relatives who did not have affected children predicted they themselves would experience. The perceptions of the burden of raising a handicapped child of FXS relatives without affected children were more similar to those of the comparison group than to those of FXS mothers. This suggests that women who raise a child with FXS learn to cope with an unchangeable situation, and consequently their perceptions of the burdens ease with time. A direct relationship between the acceptability of selective abortion and the perceived seriousness of the problems associated with having an affected child was observed.
A survey of manifesting carriers of Duchenne and Becker muscular dystrophy in Wales
Authors: Norman Andrew , Harper Peter
Published: July 2010

Manifesting carriers of Duchenne and Becker muscular dystrophy are uncommon but well described. Such patients are of particular importance with regard to the differential diagnosis from autosomal recessive limb‐girdle muscular dystrophy. All mothers of affected males known to the Genetic Register of Muscular Dystrophy Families in Wales were contacted, and 167 out of a possible 190 were examined. It was estimated from pedigree and creatine kinase analysis that 119 out of the 167 were carriers of the Duchenne/Becker gene. Three manifesting carriers were identified, giving the proportion affected as 3/119 = 2.5%. We estimate the prevalence of manifesting carriers to be 1 in 100 000 of the female population, a figure comparable to the prevalence of autosomal recessive limb‐girdle muscular dystrophy. During the period of the survey, several other women with similar clinical findings but without an appropriate family history were seen. We strongly suspect that some of these are also manifesting carriers of the Duchenne/Becker gene.
De novo Robertsonian D/D type translocations: the Leuven experience
Authors: Kleczkowska A. , Fryns J. P. , Standaert L. , van den Berghe H.
Published: July 2010

In this paper we report a de novo 13/14 Robertsonian type translocation with apparent loss of band 14qll in a mentally retarded, blind 24‐year‐old male. The findings in 10 other patients with a de novo Robertsonian D/D type translocation diagnosed in this center are reviewed.
Hereditary amyloidosis: detection of variant prealbumin genes by restriction enzyme analysis of amplified genomic DNA sequences
Authors: Nichols William C. , Benson Merrill D.
Published: July 2010

The autosomal dominant prealbumin amyloidoses are late‐onset disorders characterized by varying degrees of peripheral neuropathy, nephropathy and cardiomyopathy. To date, seven different single amino acid mutations in the plasma protein prealbumin (transthyretin) have been found to be associated with amyloidosis and each is the result of a single nucleotide change in the prealbumin gene. By virtue of the restriction endonuclease sites created by the point mutations which give rise to the protein variants, direct DNA tests using Southern analysis have already been developed for detection of the Met‐30, Ile‐33, Ala‐60, Tyr‐77 and Ser‐84 prealbumin genes. As an alternative to Southern analysis, we have amplified discrete regions of the prealbumin gene using polymerase chain reaction (PCR) and used restriction enzyme analysis of the PCR products to detect the Met‐30, Ala‐60, Tyr‐77 and Ser‐84 prealbumin genes after agarose gel electrophoresis and staining with ethidium bromide. In comparison to Southern analysis these alternative tests yield results much more quickly and avoid the use and handling of radioactively labeled probes.
Serum protein markers in Chinese schizophrenics ‐ haptoglobin types and transferrin and group‐specific component subtypes
Authors: Tsoi N. Saha and W. F.
Published: July 2010

Four hundred and thirty‐nine Chinese schizophrenic male patients were investigated for the distribution of haptoglobin types; transferrin and group‐specific component subtypes. The allelic frequencies of these three polymorphisms in the patient group were compared with those in healthy controls from published series. An excess of Gc2 over Gc1 (X21 4.1; P < 0.05) as well as a lack of GclS (X21 15.3; P < 0.001) was observed in schizophrenia. The relative risks of Gc1F, Gc1S and Gc2 have been estimated as 1.12, 0.76 and 1.15, respectively. It appears from this study that the presence of Gc2 renders individuals susceptible while Gc1S offers protection for schizophrenia. No such association was found for the haptoglobin or transferrin polymorphisms.
Premature centromeric divisions and prominent telomeres in a patient with persistent Mullerian duct syndrome
Authors: Rangnekar G. V. , Loya B. M. , Goswami L. K. , Sengupta L. K.
Published: July 2010

A 35‐year‐old, rare male pseudohermaphrodite with inguinal hernia, testis, fallopian tube and uterus, symptoms referrable to persistent Mullerian duct syndrome, is described. The patient has a 46,XY karyotype in 50% of metaphases, while the remaining metaphases show premature cnetromeric divisions and hypoploid counts.
A dicentric variant of chromosome 6: characterization by use of in situ hybridisation with the biotinylated probe p308
Authors: Callen D. F. , Eyre H. J. , Ringenbergs M. L.
Published: July 2010

An unusual variant of chromosome 6 was shown to be a dic(6) by use of the chromosome specific alphoid probe, p308. The use of biotinylated repeat probes provides a rapid procedure for the resolution of some cytogenetic abnormalities.
Fraser syndrome (cryptophthalmos with syndactyly) in the fetus and newborn
Authors: Ramsing Mette , Rehder Helga , Holzgreve Wolfgang , Meinecke Peter , Lenz Widukind
Published: July 2010

Clinical and autopsy Findings in two fetuses and one newborn infant with Fraser syndrome are presented. Discussion focuses on the range of phenotypic expression within this autosomal‐recessive disorder, the resulting difficulties in prenatal and postnatal diagnosis, and on the concept of a neurocristopathy as underlying disturbance.
5p;12q translocation with manifestations of cri du chat syndrome and Marfanoid arachnodactyly
Authors: Zhang Sjzhong , Tang Yongcai , Dai Fupjng , Nœbuhr Erik
Published: July 2010

A 12‐year‐old boy with a history of a mewing cry after birth, severe mental retardation, Marfanoid arachnodactyly, general osteomalacia and multiple bone fractures was found to have a de now 5p;12q chromosomal translocation. The karyotype is 46,XY,t(5;12)(12qter→ 12q24.1::5p15→cen→5qter;12pter→cen→12q24.1). The karyotypes of other examined family members are normal. The manifestations of cri du chat syndrome are explained by the loss of a small segment of 5p15 which is responsible for the major stigmata of the syndrome, and the abnormalities of the osseous system may be the results of untreated vitamin D resistant rickets.
Genetic counselling in Duchenne and Becker muscular dystrophy is problematic when carrier studies give controversial results
Authors: Kääriäinen H. , Lindlöf M. , Somer H. , de la Chapelle A.
Published: July 2010

DNA‐analysis with flanking and intragenic markers gave confusing results in 7 out of 74 (9.5%) Finnish families with Duchenne or Becker muscular dystrophy. In five families a sister or maternal aunt of the patient had elevated serum creatine kinase (CK) activity, although DNA‐analysis indicated a low risk for carriership. In one family the two affected brothers had different pERT87 alleles. In one family the intragenic deletion found in a patient was not present in his mother, who was an obligatory carrier. Deletions were detected with cDNA probes in the probands in five of the families, but the controversy regarding carriership still remained. It is necessary to combine all available data from pedigree analysis, CK measurements, and DNA studies whenever carrier studies are performed, but it appears that major problems in counselling and prenatal diagnosis will still remain in a proportion of the families.
A child with cystic fibrosis: I. Parental knowledge about the genetic transmission of CF and about DNA‐diagnostic procedures
Authors: Denayer Lieve , Evers‐Kiebooms Gerry , Van den Berghe Herman
Published: July 2010

In 1984, we interviewed 105 Belgian families with a Cystic Fibrosis (CF) child in order to evaluate their knowledge about the genetic aspect of CF. Three years later, in 1987, they received a mailed questionnaire to assess how well they were informed about the new possibilities of DNA diagnosis. In 1984, three out of the four families were aware of their 25% recurrence risk in subsequent pregnancies. The proportion of correct answers rose to 87% in 1987. The risk that relatives may be asymptomatic carriers was less well known. Only 17% knew that the risk that their own brothers and sisters are carriers of the CF‐gene was 1 in 2. The probability that their own healthy children would be carriers of the CF‐gene was not known at all. Half of the families who returned the questionnaire thought they were well informed about the new possibilities of DNA‐analysis for prenatal diagnosis. The limitations of DNA analysis, however, were poorly understood. The information transfer about the genetic transmission of CF and related topics within the family was also investigated.
A child with cystic fibrosis: II. Subsequent family planning decisions, reproduction and use of prenatal diagnosis
Authors: Evers‐Kiebooms Gerry , Denayer Lieve , Van den Berghe Herman
Published: July 2010

In 1984, we interviewed 105 Belgian families with a Cystic Fibrosis (CF) child in order to assess the impact of the birth of their CF‐child on subsequent family planning and to evaluate their attitudes towards prenatal diagnosis. Three years later, in 1987, they received a mailed questionnaire for an updating of the reproduction data and to assess their knowledge and intentions with regard to the new possibilities of DNA diagnosis. The birth of a CF‐child had a major impact upon subsequent family planning. This effect was found both in the reproductive plans reported by the parents and in the occurrence of pregnancies during the follow‐up interval. This effect can be attributed mostly to the recurrence risk and consists of postponing pregnancies as well as of deciding against further offspring. If the CF‐child was the firstborn, the chance of having another child was greater than if there was already a healthy child before the birth of the CF‐child. Nevertheless, only 47% of the families in which the CF‐child was the firstborn, and who could be followed for an average period of 7 years, had another pregnancy. A large majority of families intended to use prenatal diagnosis should a pregnancy occur. In half of the pregnancies that occurred between 1984 and 1987, a prenatal diagnosis was performed. On the other hand, there is less consensus about pregnancy interruption should prenatal diagnosis reveal an affected fetus. In both 1984 and in 1987, more than half of the parents thought they would decide to have an interruption, but it is worth noting that a considerable proportion of interviewees could not make up their mind or were against it. It is also striking that one‐third of the group held a different opinion in 1984 as compared to 1987.
Xbal polymorphism of the apolipoprotein B gene influences plasma lipid response to diet intervention
Authors: Tikkanen M. J. , Xu C‐F. , Hämäläinen T. , Talmud P. , Sarna S. , Huttunen J. K. , Pietinen P. , Humphries S.
Published: July 2010

Fresh blood samples were collected from 103 North Karelians who had in 1981–84 participated in dietary intervention studies and analysis of the Xbal restriction fragment length polymorphism (RFLP) of apolipoprotein B (apoB) was carried out. Reanalysis of the original plasma lipid and apolipoprotein data indicated that while baseline concentrations did not differ significantly between genotypes, the response to a low‐fat, low‐cholesterol diet was influenced by apoB Xbal genotype: reductions in total and low density lipoprotein (LDL) cholesterol, apoB and high density lipoprotein (HDL) cholesterol were greater in subjects homo‐ or heterozygous for the presence of the Xbal cutting site (X1X2 or X2X2 genotype, designated X2+) as compared to those lacking the cutting site (X1X1 genotype, designated X2—). The corresponding average reductions induced by dietary intervention in X2+ and X2— subjects were: for total cholesterol 1.30 and 0.99 mmol/1 (p=0.036), for LDL cholesterol 1.04 and 0.78 mmol/1 (p=0.049), for apoB 18.3 and 8.1 mg/100 ml (p=0.012) and for HDL cholesterol 0.26 and 0.17 mmol/1 (p = 0.008).