bluuebunny/crossref_metadata_2025 huggingface dataset:
Autosomal recessive inheritance of idiopathic dilated cardiomyopathy in a Madeira Portuguese kindred
Authors: Goldblatt J. , Melmed J. , Rose A. G.
Published: July 2010

Cardiomyopathy is a heterogeneous disorder with numerous inherited and acquired causes. Familial, isolated, dilated cardiomyopathy is usually reported as being inherited in an autosomal dominant mode with variable penetrance and expressivity: In this paper we describe a form of autosomal recessively inherited, dilated, cardiomyopathy occurring in three members of a consanguineous Madeira Portuguese family. Following review of the literature, it appears that the autosomal recessive form of dilated cardiomyopathy is more common than previously reported.
Female carriers of Duchenne muscular dystrophy: a dilemma
Authors: Isaacs H. , Badenhorst M.
Published: July 2010

In this paper female non‐identical twins of a known Duchenne carrier are presented; one has typical features and the anticipated progression of Duchenne dystrophy, the other appears to be normal. In addition, two female children with Duchenne‐like dystrophy are discussed. These cases show no evidence of translocation or mosaicism and offer an opportunity to reappraise the genetics of Duchenne dystrophy with specific regard to females. The subjects have been fully investigated, and in Case 3 the glycolytic enzymes and mitochondrial energy‐producing capacity were also studied.
Choroideremia: close linkage to DXYS1 and DXYS12 demonstrated by segregation analysis and historical‐genealogical evidence
Authors: Sankila E.‐M. , Chapelle A. DE LA , Karna J. , Forsius H. , Frants R. , Eriksson A.
Published: July 2010

Linkage studies using restriction fragment length polymorphisms were conducted in the X‐linked disorder, choroideremia, designated TCD for Progressive Tapeto‐Choroidal Dystrophy. Previously demonstrated close linkage with locus DXYS1 was confirmed (lod 11.44 at 0 recombination distance). In addition, locus DXYS12 was found to be closely linked with TCD (lod 3.31 at 0 recombination distance). The disease mainly occurs in three large kindreds in remote Northern Finland. While formal genealogical proof is lacking, all presently living (more than 80 affected males and 120 carrier females) probably originate from a common founder couple born in 1644 and 1646, twelve generations ago. All 36 patients and 48 carriers tested from the three kindreds had the same haplotype (TCD/DXYS1, llkb/DXYS12,1.6kb). Given that at least 105 female meioses transmitting TCD have occurred since 1650 in these kindreds, extremely close linkage between TCD, DXYS1 and DXYS12 is suggested. The above haplotype is a very useful diagnostic tool in these TCD families. We suggest that our historical‐genealogical approach to linkage analysis may be possible elsewhere in similar isolated populations.
Partial duplication 16q: report of two affected siblings resulting from a maternal translocation and literature review
Authors: Hahm S. Y. E. , Chitayat D. , Iqbal M. A. , Cho S. , Nitowsky H. M.
Published: July 2010

Two siblings with a partial duplication 16q, born to a woman with a balanced translocation (6; 16), are described. The first infant died at 8 weeks of age; the second died at 4 months. Fifteen other cases of duplications involving 16q have been reported, all of them derived from a balanced parental translocation. The most frequent physical findings have included dysmorphic facies characterized by high forehead, prominent nose, antimongoloid slant, malformed ears, and micrognathia, as well as flexion contractures of the joints, deformity of the feet, and genital hypoplasia in the male. Anorectal, intestinal and cardiac malformations were less frequent findings. Most of the affected infants died at ages ranging from 8 days to 6 months. The few with longer survival (up to 6 years) had a shorter, more distal segment duplication of chromosome 16. Although intrauterine growth retardation and microcephaly were not always present at birth, most of the infants had postnatal growth failure. The phenotypic and clinical findings of the two infants in this report are compared with those of previously reported cases, from which there appears to be correlation of the length of the 16q duplication with clinical phenotype and survivals.
Effect of vitamin E and ticlopidine on platelet aggregation in Fabry's disease
Authors: Sakuraba H. , Igarashi T. , Shibata T. , Suzuki Y.
Published: July 2010

Thromboembolism, increased platelet aggregation and high plasma concentration of /?‐throm‐boglobulin were observed frequently in hemizygotes and heterozygotes of Fabry's disease. The administration of vitamin E and ticlopidine could improve the increased platelet aggregation in this disease. The platelet activation, probably induced by vascular endothelial damages, would accelerate atherosclerotic and thromboembolic vascular changes. Antiplatelet therapy will be effective for the prevention of these vascular complications in this disease.
Familial transmission of Wolf syndrome resulting from specific deletion 4p16 from t(4;8)(p16;p21) mat.
Authors: Martsolf J. T. , Chase T. R. , Jalal S. M. , Wasdahl W. A.
Published: July 2010

Wolf syndrome has been recognized since the mid‐sixties. It has also been postulated that the loss of 4p16 is the primary reason for the syndrome. However, in a handful of cases the breakpoints have been identified, only a very few of which are exclusively 4p16. In this report we present familial transmission of 4p16 deletion (associated with 8pter→8p21 duplication) in three individuals with typical expression of Wolf syndrome. The transmission occurs from a de novo balanced maternal translocation, 46,XX,t(4;8)(p16;p21). An effort has also been made to distinguish the terminal deletion syndrome from the emerging interstitial deletion syndrome of 4p.
Autosomal dominant inheritance of cervical ribs
Authors: Schapera J.
Published: July 2010

Nine members of three generations of a South African kindred had cervical ribs. The distribution of this abnormality in the family was consistent with autosomal dominant inheritance.
A Japanese patient with the Dubowitz syndrome
Authors: Kondo I. , Takeda K. , Kuwajima K. , Hirano T.
Published: July 2010

A 2‐year‐old Japanese male whose clinical features included intrauterine and postnatal growth retardation, mild mental retardation, microcephaly and characteristic facial appearance including sloping forehead, blepharophimosis, ptosis of unilateral eyelid, broad nasal bridge, dys‐plastic auricles, and retrognathia, is presented. The clinical findings of this patient are strikingly similar to those of patients with the Dubowitz syndrome. However, all reported cases with the Dubowitz syndrome are Caucasians. This syndrome may be diagnosed even in sporadic cases of any ethnic groups based on the characteristic features.
Pallister‐Killian syndrome: cytogenetic and molecular studies
Authors: Peltomäki P. , Knuutila S. , Ritvanen A. , Kaitila I. , Chapelle A. DE LA
Published: July 2010

Pallister‐Killian syndrome is a dysmorphic syndrome characterized by a tissue‐limited mosaicism: a majority of fibroblasts have 47 chromosomes with an extra small metacentric chromosome, whereas the karyotype of lymphocytes is normal. In this study, the interpretation of the extra chromosome as composed of two short arms of chromosome 12 is confirmed, using molecular methods. Furthermore, restriction fragment length polymorphisms indicate that the two arms are identical, which is compatible with the hypothesis of an isochromosome 12p. A new feature which may be important in understanding the mechanism of origin of the abnormality is described: the proportion of abnormal mitoses falls dramatically during long‐term culture of fibroblasts.
Convoluted cells as a marker for maternal cell contamination in CVS cultures
Authors: Hertz J. M. , Jensen P. K. A. , Therkelsen A. J.
Published: July 2010

In order to identify cells of maternal origin in CVS cultures, tissue from 1st trimester abortions were cultivated and the cultures stained in situ for X‐chromatin. Convoluted cells and maternal fibroblasts were found to be positive. By chromosome analysis of cultures from 105 diagnostic placenta biopsies, obtained by the transabdominal route, metaphases of maternal origin were found in nine cases. In eight of these cases colonies of convoluted cells were observed. We conclude that convoluted cells are of maternal origin and are a reliable marker for maternal cell contamination in CVS cultures.
The Brachmann‐de Lange syndrome in two siblings of normal parents
Authors: FRYNS J. P. , Dereymaeker A. M. , Hoefnagels M. , D'Hondt F. , Mertens G. , Berghe H. van den
Published: July 2010

In this report we describe two male siblings with typical Brachmann‐de Lange syndrome. Both presented a severe form of this MCA syndrome, and died at the age of 3 months and 3 weeks, respectively. Family history was completely negative, parents were normal, and prometaphase chromosome studies failed to reveal a chromosomal basis for this unique malformation syndrome.
Autosomal dominant epidermolysis bullosa dystrophics: are the Cockayne‐ Touraine, the Pasini and the Bart‐types different expressions of the same mutant gene?
Authors: Bavinck J. N. Bouwes , Haeringen A. Van , Ruiter D. , Schroeff J. G. van der
Published: July 2010

We report on a family with autosomal dominant dystrophic epidermolysis bullosa and congenital localized absence of skin, resembling the features of Bart's Syndrome. This type of epidermolysis bullosa and the Cockyane‐Touraine and Pasini types may represent different expressions of the same gene defect.
Elevated 1,25‐dihydroxyvitamin D and normocalcaemia in presumed familial Williams syndrome
Authors: Knudtzon J. , Aksnes L. , Akslen L. A. , Aarskog D.
Published: July 2010

Two brothers with Williams syndrome without hypercalcaemia are presented. One boy died during the first month of life. His brother also had the typical phenotypic features of the elfin fades. He developed severe microcephaly and cataract and died at the age of 9 years. The skeleton was osteosclerotic at birth, and became generally osteoporotic at the age of 2 years. He had persistently elevated 1,25‐dihydroxyvitamin D levels during the first 2 years of life, in spite of normocalcaemia. At autopsy, microcalcifications were found in the brain and kidneys. The present report underscores the familial occurrence of Williams syndrome of severe degree. Elevated 1, 25‐dihydroxyvitamin D levels without hypercalcaemia have not been reported previously, and may suggest causal heterogeneity of the Williams syndrome.
Trisomy 18 clustering in Kuwait
Authors: Naguib Kamal K. , Al‐Awadi Sadika A. , Marafie M. J. , Al‐Huji S. Y.
Published: July 2010

Thirteen cases of trisomy 18 (T18) were ascertained clinically and cytogenetically during the period 1984–1986.

Eight cases were delivered during 1986 in the Maternity Hospital out of 17318 live births, making an incidence of 4.61/10000, which is significantly higher than the international incidence as well as the incidence in previous years. The femaie‐to‐male sex ratio was 1.8/1, the median maternal age 32.5, and the median paternal age 40.

There was no history of polyhydramnios. Five cases were delivered by cesarean section and four cases died in the neonatal period. All cases proved to be full trisomy 18 with no mosaicism detected; in one case parental inversion 9 was detected.
A boy with Down's syndrome having recombinant chromosome 21 but no SOD‐1 excess
Authors: Miyazaki Kiyoshi , Yamanaka Tsutomu , Ogasawara Nobuaki
Published: July 2010

A 5‐year‐old boy with Down's syndrome of mild phenotype is described. Chromosome studies revealed that the karyotype of the proband was 46,XY,rec(21),dupq,inv(21)(pll.2q22.1)mat, and the segment 21q22.1 → 21qter was trisomic. The erythrocyte superoxide dismutase‐1 (SOD‐1) was found to be normal, and so we conclude that SOD‐1 excess is not necessarily observed in patients with Down's syndrome caused by partial 21 trisomy. It is suggested that the gene for SOD‐I is located on the more proximal segment of the sub‐band 21q22.1.
On the origin of recurrent trisomy 21: determination using chromosomal and DNA polymorphisms
Authors: Hamers A. J. H. , Vaes‐Peeters G. P. M. , Jongbloed R. J. E. , Millington‐Ward A. M. , Meujer H. , De Die‐Smulders C. E. M. , Geraedts J. P. M.
Published: July 2010

A family is described in which two cases of trisomy 21 occurred in, respectively, a newborn infant and a prenatally diagnosed fetus. Using fluorescent chromosomal polymorphisms, it was established that in both cases the extra chromosome resulted from a first meiotic division error in the mother and that the father contributed the same centromeric region to both children. RFLP‐associated probes were used to examine the genetic content of the chromosomes. It was noted that the polymorphism patterns of the chromosomes 21 which both children inherited from their parents were identical for three, but not identical for one of the probes studied. This difference must be the result of recombination. This result is discussed in relation to the suggestion that the increased recurrence rate in mothers with a trisomic child could be due to a reduced recombination rate.
New type of spinocerebellar degeneration syndrome in a northern Swedish population
Authors: Gustavson K.‐H. , Modrzewska K. , Erikson A. , Andersson U.
Published: July 2010

A follow‐up investigation of 24 patients with hereditary spasticity in a geographically isolated northern Swedish population, first examined by Böök (1953), was performed. Fifteen of them were dead. During the period from 1950–1972 five new cases of spastic syndromes were diagnosed in this population. The patterns of clinical symptoms and the genetic associations between the new and 24 previously reported patients with spastic syndromes were analyzed. Three of the five new cases had a specific syndrome. This starts in the first years of life with ataxia, which is followed by dysarthria, spasticity and jerky intention tremor. Initially the patients are mentally normal, but there seems to be slight mental deterioration through the years. The disorder is a progressive spinocerebellar degeneration with autosomal recessive inheritance.
A new autosomal dominant craniofacial deafness syndrome
Authors: Kassutto S. , Kassutto Z. , Ben‐Ami T. , Goodman R. M.
Published: July 2010

A Jewish family is reported in which the proband and her father had congenital hearing loss and unusual facies consisting of facial asymmetry, temporal alopecia with frontal bossing, a broad nasal root and small nasal alae. In addition, both were born with a short frenulum of the tongue. We believe these findings represent a new autosomal dominant deafness syndrome with distinct craniofacial features.
Transcultural study of Turner's syndrome
Authors: Nielsen J. , Stradiot Marleen
Published: July 2010

A transcultural questionnaire study was made of 111 girls with Turner's syndrome aged 17 to 30 from Belgium, Canada, Denmark, France, the FRG and Hungary. The study reveals that there is still too much secrecy and ignorance concerning Turner's syndrome, and the diagnosis should be made and presented together with full information much earlier than at present, preferably at birth. More and better information concerning Turner's syndrome is needed in all participating countries, but more in some countries than in others. The study further shows that there is a great need for the establishment of Turner's syndrome societies or Turner contact groups so that such groups are available in all countries. The study also shows that in spite of personality profiles with characteristics such as happy, active, extroverted, realistic, talkative, and good contact abilities, far too many girls with Turner's syndrome suffer from anxiety, loneliness and inferiority feelings, especially in certain countries. This is definitely due to environmental factors that ought to be changed and can be changed by an increase in the level of information and research, together with establishment of Turner contact groups in all countries.
Multiple pterygium syndrome: a case complicated by malignant hyperthermia
Authors: Robinson L. K. , O'Brien N. C. , Puckett M. C. , Cox M. A.
Published: July 2010

The autosomal recessive multiple pterygium syndromes are a heterogeneous group of disorders in which multiple joint contractures are associated with cutaneous webbing. Recently, we evaluated a 33 week gestation male in whom multiple pterygia were one feature of a broader pattern of malformation. Clinical management was adversely affected by malignant hyperthermia. In this report we present the clinical, radiographic and pathologic data of this patient and those of an affected stillborn female sibling. We believe that these represent the features of a newly recognized disorder.
Non‐mosaic isodicentric X‐chromosome in a patient with secondary amenorrhea
Authors: Ponzio G. , Chiodo F. , Messina M. , Surico N. , Libanori E. , Folpini E. , Porcelli A. , Marchese C.
Published: July 2010

An isodicentric X‐chromosome idic(X) (pter→ q26.1::q26.1 → pter) was found in lymphocytes and ovarian tissue of a 40‐year‐old female patient with secondary amenorrhea. No mosaicism was observed. The phenotype‐karyotype correlation of our case and of previously described non‐mosaic cases of idic(X) (q::q) with different breakpoints is discussed.
Langer‐Giedion syndrome with del 8 (q24.13‐q24.22)
Authors: Okuno T. , Inoue A. , Asakura T. , Nakao S.
Published: July 2010

An 8‐year‐old boy with the features of Langer‐Giedion syndrome except for short stature is described. Chromosome analysis using high resolution G‐banding techniques revealed an interstitial deletion of the long arm of chromosome 8: 46,XY,del(8)(q24.13‐q24.22).
Gene for incontinentia pigmenti maps to band Xp11 with an (X;10) (p11;q22) translocation
Authors: Cannizzaro Linda A. , Hecht Frederick
Published: July 2010

Incontinentia pigmenti (IP) is a genetic disease that is usually lethal in males. We report finding an X;10 translocation in a girl with IP. Three other X/autosome translations have been observed in females with IP: two involving chromosome 9 and one involving chromosome 17. The breakpoint in all four cases in the X chromosome was in band Xp11. The IP gene locus can therefore be confidently assigned to the X chromosome and, specifically, to band Xp11. The IP gene is most likely in subband Xp11.2. We propose that IP may prove to be a submicroscopic deletion.
Genetic history: I. The Schneersons of Lubavich
Authors: Hecht Frederick , Sandberg Avery A.
Published: July 2010

Genetic history in pedigree form is a useful tool in historical studies. This is illustrated by the Schneerson family dynasty, which has led the Lubavich sect of ultra‐orthodox Hasidic Jews since its inception in the 18th century. The current leader is the seventh successive Schneerson to head the Lubavichers.
Chromosome studies in IgA‐deficient patients
Authors: Taalman R. D. F. M. , Weemaes C. M. R. , Hustinx T. W. J. , Scheres J. M. J. C. , Clement J. M. E. , Stoelinga G. B. A.
Published: July 2010

Chromosome analysis was performed in 17 children ith IgA‐deficiency. In two patients a constitutional structural chromosome abnormality was found. A ring chromosome 22 was seen in one, while in the other a mosaicism of ring chromosome 18/18p+ was observed. Both patients wcre metanlly retarded and showed distinct congénital defects. From ten asymptomatic patients, spontaneous as well as X‐ray‐induced chromosome instability was investigated. There was no increased spontaneous instability, and also after irradiation the induced chromosome damage was within normal control levels. A relationship between IgA‐deficiency and X‐ray hypersensitivity, as might be suggested by the frequently occurring coïncidence of radiosensitivi‐ty and IgA‐deficiency in ataxia teleangiectasia patients, is not established.
Type III congenital cystic adenomatoid malformation of the lung: another cause of elevated alpha fetoprotein?
Authors: Petit P. , Bossens M. , Thomas D. , Moerman Ph , Fryns J. P. , van den Berghe H.
Published: July 2010

In this report we document the first observation of highly elevated alpha fetoprotein (AFP) levels in the amniotic fluid of a 23‐week gestation male fetus with cystic adenomatoid lung malformation (CCAML) Type III and caudal regression. The increase of AFP levels may be related to the presence of tumor‐like lung masses of embryonic origin.
Three‐generation transmission of Hirschsprung's disease
Authors: Lipson A. H. , Harvey J.
Published: July 2010

A three‐generation family with non‐syndromic biopsy‐proven Hirschsprung's disease involving both short and long segments of the large bowel is reported. Although this is the first three‐generation family reported, it is expected that with the improved diagnosis and treatment that has occurred over the last 30 years further such families will be described, and that the heritability of this condition will be further clarified.
The gene for incontinentia pigmenti: failure of linkage studies using DNA probes to confirm cytogenetic localization
Authors: Harris Ann , Lankester Shelley , Haan Eric , Beres Judith , Hulten Maj , Szollar Judit , Soutter Linda , Bobrow Martin
Published: July 2010

Probes for restriction fragment length polymorphisms mapping between Xp21 and Xq22.3 have been used in a linkage study of incontinentia pigmenti (IP). Six independent sporadic cases of disorders resembling IP with X‐autosome translocations involving the same X chromosome breakpoint (Xp11) have been reported. These observations suggest that the IP gene may be located in the Xp11 chromosomal region. However, the linkage study with DNA probes has failed to confirm this localisation.
The phenotype of partial dup(7q) reconsidered: a report of five new cases
Authors: Forabosco A. , Baroncini A. , Dalpra L. , Chessa L. , Giannotti A. , Maccagnani F. , Dallapiccola B.
Published: July 2010

Five unrelated patients with partial trisomy 7q are described. In two of them the duplicated region was 7q21→qter and in the others 7q22→qter, 7q34→qter and 7q35→qter, respectively. Clinical features were compared with those reported in published cases. Karyotype‐phenotype correlations showed a relationship between the size of the unbalanced region and the survival, and prenatal and postnatal growth. In contrast, the same proportionality was not demonstrated between the severity of dysmorphic features and the size of the duplicated region. However, cleft palate seemed associated rather characteristically with dup 7q22/31→qter.
Neonatal screening for amino acidaemias in Karnataka, South India
Authors: Rao N. Appaji , Devi A. Radha Rama , Savithri H. S. , Rao S. Venkat , Bittles A. H.
Published: July 2010

Consanguineous marriages are strongly favoured among the peoples of South India. Because of the potential genetic risks resulting from inbreeding, a neonatal screening project was established in 1980 in the state of Karnataka for the identification of amino acidaemias. To date, blood samples obtained by toe‐stab from 98 256 neonates have been tested by thin layer chromatography, with 46 single and 70 general amino acidaemias detected. The coefficients of inbreeding (F) for the two groups of neonates were 0.0336 and 0.0350, by comparison with a previously determined F value for the general, new‐born population of 0.0298. The most common single abnormality detected was tyrosinaemia, with spontaneous resolution in the majority of cases.
Mucopolysaccharidosis type IIIC (Sanfilippo): early clinical presentation in a large Turkish pedigree
Authors: Sewell A. C. , Pontz B. F. , Benischek G.
Published: July 2010

Two sisters from a large consanguineous Turkish family with Sanfilippo C disease presented within the first 2 years of life. They had coarse facial features, organomegaly and discrete radiological signs of dysostosis multiplex. Urinary glycosaminoglycan excretion was elevated, heparan sulfate being the major component. The uptake of radioactive sulfate into fibroblasts from both patients was abnormal. A deficiency of acetylCoA:α‐glucosamine transferase was demonstrated in fibroblasts from one patient. To our knowledge, this is the first report of the disease presenting in early infancy.
First‐trimester diagnosis of metachromatic leucodystrophy
Authors: Fensom A. H. , Marsh Jane , Jackson Marie , McGuire V. Mary , Vimal Christina , Nicolaides K. , Sheridan R.
Published: July 2010

Two pregnancies at risk for late infantile metachromatic leucodystrophy were monitored by assaying arylsulphatase A at 0°C in homogenates of chorionic villi. In one, the very low activity recorded indicated the fetus to be affected, and this was confirmed by demonstration of low arylsulphatase A activity in cultured villi and cultured fetal fibroblasts after termination. In the other pregnancy, normal activity was found in the villi and the pregnancy is continuing. This simple chromogenic assay appears to be reliable for first‐trimester diagnosis of metachromatic leucodystrophy. However, there is a probability of mis‐diagnosis if the standard assay at 37°C is used.
A genetic‐diagnostic survey in an institutionalized population of 158 mentally retarded patients. The Viaene experience
Authors: Dereymaeker A. M. , Fryns J. P. , Haegeman J. , Deroover J. , Van den Berghe H.
Published: July 2010

In this report we summarize the results of a genetic‐diagnostic survey of an institutionalized population of 158 severely mentally retarded patients. The etiological study was based on a clinical genetic approach with special attention to dysmorphology and neurological findings. In 72 patients a constitutional cause of their mental impairment was found: a chromosomal abnormality in 21, a Mendelian disorder in 36 (autosomal recessive disorder: 23; autosomal dominant: 12; and X‐linked recessive: 1), a MCA/MR syndrome in 9, and a CNS malformation in 6 patients. In 33 patients, a pre‐ or perinatal cause was found, and 20 patients presented a pre‐ or perinatal infection of the CNS. Finally, no etiological diagnosis was detected in 28 patients; 6 of them presented a hitherto unclassifiable type of familial mental retardation.
Fibroblasts of two patients with trisomy 18 show 1.5‐fold increase in peptidase A activity over normal human diploid fibroblasts
Authors: Namba Masayoshi , Nakatsuka Shigeharu , Etoh Hisashi , Kataoka Naoki , Kimoto Tetsuo
Published: July 2010

Peptidase A (Pep A) activity assigned to chromosome 18q23 was biochemically examined in fibroblasts cultured from two patients with trisomy 18 and in fibroblasts derived from normal individuals. The trisomy 18 fibroblasts showed approximately a 1.5‐fold increase in Pep A activity over that of the control fibroblasts. Agar gel electrophoretic analysis revealed no detectable differences in the electrophoretic mobility and isoenzyme patterns of Pep A between the trisomy 18 fibroblasts and normal ones. The present results show the trisomy 18 fibroblasts to be suitable for study of the gene dosage effect of Pep A.
Huntington disease carrier status and the problems involved for those affected. A psychotherapeutic experience
Authors: Wolff Gerhard
Published: July 2010

The paper presents a case report of a clinicalty healthy woman with a family history of Huntington disease, whose child developed symptoms of the disease at the age of 8 years. Psychotherapeutic treatment for more than 18 months has provided insight into the problems associated with being an unsymptomatic carrier of the gene and helps to elucidate some aspects of predictive testing.
Risk effect of maternal age in Pallister i(12p) syndrome
Authors: Wenger Sharon L. , Steele Mark W. , Yu Wei‐Dong
Published: July 2010

Pallister syndrome is consequent to mosaicism for i(12p). The isochromosome is found mainly in skin fibroblast cultures, but rarely also in cultured peripheral blood lymphocytes. Maternal age for reported cases of Pallister syndrome was significantly older (p < 0.005) compared to maternal age for the general population, and similar to maternal age in cases of Down syndrome (p<0.5). Paternal age in cases of Pallister syndrome was that expected in the general population from the age of their spouses (p<0.9). These data complement the maternal age effect seen in other aneuploidy conditions and suggest, as is found in mosaic cases of Down syndrome, that the chromosomally normal cell line in Pallister syndrome arises post‐conception from a zygote already aneuploid consequent to meiotic nondisjunction.
False negative findings at third trimester chorionic villus sampling (C.V.S.)
Authors: Leschot N. J. , Wolf H. , Weenink G. H.
Published: July 2010

A discrepancy is reported between the karyotypes of chorionic cells (direct method):46,XX and of cultured amniotic fluid cells: 47,XX,+18 in a pregnancy of 30 weeks. A stillborn girl, with external signs of trisomy 18 syndrome, was subsequently shown to have a mosaic pattern in both the lymphocytes and the placenta.
Coffin‐Lowry syndrome: a multicenter study
Authors: Gilgenkrantz S. , Mujica P. , Gruet P. , Tridon P. , Schweitzer F. , Nivelon‐Chevallier A. , Nivelon J. L. , Couillault G. , David A. , Verloes A. , Lambotte C. , Piussan Ch. , Mathieu M.
Published: July 2010

The Coffin‐Lowry syndrome is an inherited syndrome of mental retardation, characteristic facies and skeletal anomalies. The occurrence of severe manifestations in males, with no instance of male‐to‐male transmission, suggests an X‐linked inheritance. The paper describes seven families from five European Centers.
Apolipoprotein E alleles and hyperlipoproteinemia in Japan
Authors: Eto M. , Watanabe K. , Ishii K.
Published: July 2010

Genetic polymorphism of apolipoprotein (apo) E has been demonstrated to be associated with hyperlipoproteinemia (HLP). There are few reports on this association in Japan. Thus, in this study, we have examined the apo E allele frequencies in normolipidemia (n = 129), nonfamilial hypercholesterolemic (FH) type IIa HLP (n=40), non‐FH type IIb HLP (n = 35), type III HLP (n = 17), type IV HLP (n = 59), type V HLP (n = 19) and heterozygous FH (n = 51) in Japan, and compared these frequencies between normolipidemia, and different types of HLP and FH. The frequency of the 4 allele was significantly higher in type IIa (18.7%), IIb (21.4%) and V (29.0%) HLP and FH (16.6%) than in normolipidemia (8.9%), whereas the frequency of the σ2 allele was significantly higher in type III (70.6%) and IV (11.0%) HLP than in normolipidemia (3.1%). These results indicate that the σ4 allele is associated with non‐FH hypercholesterolemia (type IIa and IIb HLP), type V HLP and FH, whereas the ɛ2 allele is associated not only with type III HLP but also with type IV HLP.
Association of apolipoprotein ɛ4 allele with hypertriglyceridemia in obesity
Authors: Fumeron F. , Rigaud D. , Bertiere M. C. , Bardon S. , Dely C. , Apfelbaum M.
Published: July 2010

Hypertriglyceridemia is the most frequent lipid abnormality associated with obesity. Genetic polymorphism of apolipoprotein E (apoE) has been demonstrated to influence lipid levels. We wanted to assess the role of apoE alleles in the hypertriglyceridemias of the obese population. The apoE phenotypes and lipid status were investigated in a population of 172 obese French subjects. The frequencies of phenotypes E4/3, E4/4 and E4/2 were 29.7%, 8.1% and 2.1%, respectively, in a subgroup with triglycerides ≥ 200. mg/dl (n = 37) versus 14.2%, 2.7% and 0.9% in the normolipidemic subgroup (p< 0.005). The odds ratio of hypertriglyceridemia was 3.15 for obese subjects with ɛ4; 27.7% of hypertriglyceridemias could be attributed to ɛ4 allele. It is concluded that the genetic polymorphism of apoE modulates the effects of obesity on lipids and lipoproteins and that allele ɛ4 increases the risk of obesity‐induced hypertriglyceridemia.
Marner's cataract (CAM) assigned to chromosome 16: linkage to haptoglobin
Authors: Eiberg Hans , Marner Else , Rosenberg Thomas , Mohr Jan
Published: July 2010

In the present study the kindred with Marner's cataràct (CAM), which now comprises nine generations, was examined for linkage with 14 marker loci. We found strong evidence for linkage to haptoglobin, zmax = 8.33 at thetamax = 0.05 for males and thetamax = 0.04 for females.
Normal DNA polymorphism at the low density lipoprotein receptor (LDLR) locus associated with serum cholesterol level
Authors: Pedersen Jan Chr. , Berg Káre
Published: July 2010

A restriction fragment length polymorphism (RFLP) at the low density lipoprotein receptor (LDLR) locus detectable with the restriction enzyme PvuII exhibits association with total serum cholesterol level. People who are homozygous for absence of the PvuII restriction site have a significantly higher total cholesterol level than heterozygotes (the number of homozygotes for presence of the restriction site was too small to permit meaningful comparison). This difference is significant at the 2% level. Thus, this study of sex‐ and age‐adjusted cholesterol levels in a sample of healthy people yields additional evidence and sustains our previous proposal that normal alleles at the LDLR locus contribute to the population variation in total cholesterol levels. Absence of the PvuII site appears to confer an odds ratio of approximately 2.7 for having a cholesterol level in the top quartile of the population distribution.
Complex chromosome rearrangements involving chromosomes 1;3 and 2;3 in two abnormal children
Authors: Voullaire L. E. , Webb G. C.
Published: July 2010

Complex chromosome rearrangements (CCR) involving multiple breaks in two chromosomes are rare. The detection of a four‐break apparently balanced rearrangement involving chromosomes 1 and 3 in a child with developmental delay led us to reanalyse, using prometaphase banding, another complex two‐chromosome rearrangement in a previously reported case (Fitzgerald 1974). The relationship between clinical abnormalities and apparently balanced rearrangements is discussed.
Male transmission of Apert syndrome
Authors: Rollnick B. R.
Published: July 2010

This report presents the first example of male transmission of Apert acrocephalosyndactyly syndrome. Female transmission has been reported in the five previous well‐documented cases of dominant inheritance of the syndrome.
A new rare heritable fragile site at 8q24.1 found in a Japanese population
Authors: Takahashi Ei‐ichi , Hori Tada‐aki , Murata Motoi
Published: July 2010

A new rare fragile site, fra(8)(q24.1) (Takahashi et al. 1987), was characterized. This site was confirmed to be heritable from the pedigree analyses of two families. Its expression was induced by AT‐specific DNA‐ligands: distamycin A, Hoechst 33258, berenil and DAPI, but not in M‐F10‐, BrdU‐ and control‐cultures. The incidence has already been evaluated to be 0.71% (6/845) in a healthy population (Takahashi et al. 1987). Thus, a fragile 8q24.1 in the present study can be classified into the rare heritable distamycin A‐inducible site.
Pitfalls in genetic counselling for β‐thalassemia: an individual with 4 different thalassemia mutations
Authors: Galanello R. , Paglietti M. E. , Addis M. , Melis M. A. , Tuveri T. , Furbetta M. , Cao A.
Published: July 2010

This paper describes a complex combination of four thalassemia genes (δ+, βo, nondeletion and deletion α‐thalassemia) in the spouse of a typical high Hb A2 β‐thalassemia carrier presenting for genetic counselling. This complex gene combination resulted in a hematological phenotype, characterized by thalassemia‐like red cell indices, normal Hb A2 and Hb F levels and slightly reduced α/β globin chain synthesis ratio, and therefore not indicative for the presence of β‐thalassemia trait. Family studies in combination with α‐globin gene mapping, haplotype analysis at the β‐globin gene cluster and definition of the β‐thalassemia mutation by oligonucleotide hybridization led us to identify a β‐thalassemia mutation, to define the molecular basis for this phenotype and give the appropriate genetic counselling.
Partial duplication of the lower limb with agenesis of ipsilateral kidney — a new syndrome: report of a case and review of the literature
Authors: Weisselberg B. , Ben‐Ami T. , Goodman R. M.
Published: July 2010

A detailed account is given of a 19‐month‐old female infant with partial duplication of the left lower limb and aplasia of the ipsilateral kidney, plus other congenital malformations. Although the etiology is unknown, we believe this constellation of findings, which has been reported previously, represents a new congenital malformation syndrome.
A simplified test to detect PKU heterozygotes by discriminant analysis in mentally retarded children and their mothers
Authors: Sartorio Renata , Greco Luigi , Carrozzo Romeo , Budillon Cristiana , Andria Generoso
Published: July 2010

We have developed classification coefficients and an equation to detect heterozygotes for phenylketonuria. The combination of several variables (Phe, Phe/Tyr, Phe2/Tyr) gave a safe diagnosis in more than 96% of cases. We then computerized a random selection of our population, which was divided into two groups: the first was “selected” to compute discriminant functions, while the second, excluded from computation, was used to check the fitness of our method. Despite the reduction of sample size, 95.2% of unknown subjects were correctly classified. Finally, we used our equation to detect heterozygotes for phenylketonuria in a population of 26 children, affected by non‐specific mental retardation, and their mothers. We found a high proportion of carriers for phenylketonuria, defined as subjects having a percent probability of correct classification higher than 90. By this method, heterozygosity was detected in two child‐mother couples, four individual children and five mothers.
HLA determinants in 70 Danish patients with idiopathic haemochromatosis
Authors: Milman Nils , Graudal Niels , Nielsen Lillian Staub , Fenger Kirsten
Published: July 2010

HLA‐A, ‐B, ‐C and ‐DR antigens were determined in 70 unrelated Danish patients with idiopathic haemochromatosis. The frequencies of HLA‐A and ‐B antigens compared to 1967 normal control subjects and the relative risk values (RR) were: A3, 80.0% vs. 26.9% (P<0.0001), RR=10.9; B7, 60.0% vs. 26.8% (P<0.0001), RR=4.1; B14, 10.0% vs. 4.5% (P=0.03), RR=2.4; B47, 4.3% vs. 0.5% (P<0.0001), RR=9.7; A3, B7, 51.4% vs. 12.2% (P<0.0001), RR=7.6; A3, B14, 10.0% vs. 1.4% (P<0.0001), RR=7.7; A3, B47, 4.3% vs. 0.5% (P<0.0001), RR=9.7. Six patients (8.6%) possessed none of these four typical antigens. There was no association between disease and the frequencies of HLA‐C and HLA‐DR antigens. The pattern of HLA‐antigens associated with haemochromatosis in Denmark shows similarities to those reported both in Germany, being HLA‐A3, B7 dominated, and in Brittany, Great Britain and Central Sweden, being HLA‐A3, B14 dominated.
Diploid/tetraploid mosaicism in a liveborn infant demonstrable only in the bone marrow: case report and literature review
Authors: Aughton David J. , Saal Howard M. , Delach Judith A. , ur Rahman Zia , Fisher David
Published: July 2010

A case of a multiply malformed liveborn infant with mosaic tetraploidy on examination of bone marrow but not of peripheral lymphocytes or skin fibroblasts is presented. The literature is reviewed and the clinical features of our patient are compared with those of the nine previously reported cases. We suggest that when the clinical suspicion of polyploidy is strong, it may be prudent to expand the search for the abnormality to include cytogenetic studies of the bone marrow, despite a normal karyotype in peripheral blood.
Higher resolution banding techniques in the clinical routine
Authors: Latos‐Bielenska Anna , Hameister Horst
Published: July 2010

Experience with higher resolution banding techniques is described. Cell synchronization and different chemicals which delay the mitotic condensation process were tried. None of these agents alone was able to induce undercondensation in a sufficient way in any of the patients investigated. Of the banding techniques, GTG banding proved preferable, but in some special cases RBA banding will be more informative.
Counseling needs and attitudes toward prenatal diagnosis and abortion in fragile‐X families
Authors: Meryash David L. , Abuelo Dianne
Published: July 2010

The genetic counseling needs of 32 women of normal intelligence at‐risk for having children with the fragile‐X syndrome (FXS) were determined by a questionnaire study which included assessment of their attitudes toward prenatal diagnosis and the option of pregnancy termination. Eighteen (56%) of the women had one or more children with the FXS and 14 (44%) had no affected children. Twenty‐six (81%) of the subjects stated that they would choose to have prenatal diagnosis and 9 (28%) indicated they would terminate an affected pregnancy. There was no significant difference between women who had affected children and those who did not have affected children, nor between Catholics and non‐Catholics regarding acceptance of prenatal diagnosis. Catholic women were less likely to consider pregnancy termination than non‐Catholics, but the majority of subjects (56%) were unsure what they would do if a fetus they were carrying was found to be affected. Issues the subjects considered most important for discussion with a genetic counselor included: 1) availability of treatment, 2) risk for having an affected grand child, 3) expectations for future functioning of affected children, and 4) availability of prenatal diagnosis.
Familial partial trisomy 5p resulting from segregation of an insertional translocation
Authors: Gustavson Karl‐Henrik , Lundberg Per Olov , Nicol Peter
Published: July 2010

A case of duplication of segment p13–p15 of the short arm of chromosome 5 as the result of an insertional translocation in a mentally retarded girl with congenital anomalies is reported. Some of the apparently balanced carriers of the inverted insertion showed minor congenital anomalies.
The fragile X‐chromosome: an evaluation of the results in a routine cytogenetic laboratory in the period 1981–1986
Authors: Veenema H. , Beverstock G. C. , de Koning Th. , Pearson P. L. , van de Kamp J. J. P.
Published: July 2010

We report on the cytogenetic studies, performed in a routine cytogenetic laboratory between 1981 and 1986, on 428 subjects: 291 probands with non‐specific mental retardation, 101 first‐degree relatives of fra(X) positive patients and 36 non‐retarded patients, referred for other reasons. As a rule 50 cells, cultured in folate‐deficient medium were analysed. The results are compared with data collected from the literature and with the data expected from prior genetic risks and fra(X) penetrance. If no more than 50 cells were analysed, the fragile site was found in a lower than expected proportion (69.2%) of the retarded first‐degree male relatives. The probability of misclassification can be calculated for various levels of fra(X) expression. We conclude that in a substantial number of unselected patients with mental retardation the diagnosis fra(X) syndrome will only be confirmed cytogenetically if at least 100 cells are analysed. Five percent of the male and 10% of the female index patients showed a fragile X‐like abnormality, probably not associated with the Martin‐Bell syndrome.
Myelodysplastic syndrome in a kindred with ins(16) (p11.2)
Authors: Clark R. E. , Geddes D. , Whittaker K. , Jacobs A.
Published: July 2010

A constitutional karyotypic abnormality, ins(16)(p11.2), is described in a case of myelodysplastic syndrome (MDS). The source of material for this insertion could not be established, but did not arise from either a balanced deletion or translocation, and did not consist of constitutive heterochromatin as defined by C‐banding. The same lesion was found in both sisters, both nephews and four of the five great‐nephews. Of these, all were phenotypically and haematologically normal, with the exception of a great‐nephew who at the age of 6 exhibits features compatible with partial trisomy 16p. The relationship of the karyotypic abnormality to the MDS and partial trisomy 16p in this family is discussed.
Selective immunodeficiency with defect in interferon‐gamma induction in two sibs with recurrent infections
Authors: Tzoneva Maria , Ganev Varban , Galabov Angel , Georgieva Kitchka
Published: July 2010

Phytohaemagglutinin induces interferon‐gamma synthesis in lymphocyte cultures from healthy individuals. We report two sibs with recurrent infections, selective IgA deficiency, and reduced blast transformation index under PHA‐stimulation, without interferon‐gamma response.
Mild expression of the Pfeiffer syndrome
Authors: Rasmussen Sonja A. , Frias Jaime L.
Published: July 2010

The acrocephalosyndactylies are a group of conditions with a wide variability of expression. We report a patient with features of the Pfeiffer syndrome (acrocephalosyndactyly type V), initially believed to be a new mutation in her family. Further examination of her mother demonstrated abnormalities of her right thumb which we believe may represent mild expression of the Pfeiffer syndrome. This observation illustrates the variability of phenotypic expression in the Pfeiffer syndrome and underscores the importance of careful investigation of parents and other family members when evaluating individuals with this condition.
AT‐related disorder
Authors: Wegner R.‐D. , Metzger M. , Hanefeld F. , Jaspers N. G. J. , Baan C. , Magdorf K. , Kunze J. , Sperling K.
Published: July 2010

Two sisters with a complex clinical pattern, including microcephaly, microgenia, defects of skin pigmentation, anal stenosis/atresia, and combined immunodeficiency together with spontaneous chromosomal instability and cellular hypersensitivity to X‐rays and bleomycin are described. Complementation studies on heterokaryons proved that the underlying genetic defect is non‐allelic with that of patients with ataxia telangiectasia (complementation groups AB‐E) and the Nijmegen breakage syndrome, but identical with the case described by Conley et al. (1986).
Hereditary neurocutaneous angiomatous malformations: autosomal dominant inheritance in two families
Authors: Hurst Jane , Baraitser Michael
Published: July 2010

We present two families in whom the affected members have angiomatous lesions which may be found in both the skin and the central nervous system. Within these families the inheritance is autosomal dominant.
Isolated mesomelic shortening of the forearm in father and daughter: a new entity in the group of mesomelic dysplasias
Authors: Fryns J. P. , Hofkens G. , Fabry G. , van den Berghe H.
Published: July 2010

In this report we describe the occurrence of severe mesomelic shortening of the forearms due to hypoplasia of the ulnae with severe radial bowing. In contrast to the mesomelic dysplasias, i.e. Langer type of mesomelic dwarfism, this apparently autosomal dominantly inherited skeletal anomaly occurred as an isolated anomaly without concomitant involvement of shanks or other parts of the skeleton, and did not influence final adult height.
Molecular Xp deletion in a male: suggestion of a locus for hypogonadotropic hypogonadism distal to the glycerol kinase and adrenal hypoplasia loci
Authors: Goonewardena P. , Dahl N. , Ritzén M. , van Ommen G. J. B. , Pettersson U.
Published: July 2010

We have analyzed one patient with a syndrome of glycerol kinase deficiency (GKD), adrenal hypoplasia (AH), mental retardation (MR) and hypogonadotropic hypogonadism (HH). Although a cytogenetic analysis of the patient failed to reveal any detectable chromosomal abnormality, Southern blot analysis, using DNA probes from the Xp21‐Xp22 region, revealed a molecular deletion localized between the DXS41 and the DXS268 loci. Our results together with those of others (van Ommen et al. 1986, 1987, Francke et al. 1987, Yates et al. 1987, Chelly et al. 1988) suggest that the GK gene is located between the DXS68 and DXS268 loci. In addition, we propose a locus for HH in Xp, distal to the genes for GK and AH.