bluuebunny/crossref_metadata_2025 huggingface dataset:
Paracentric inversions in man
Authors: Callen D. F. , Woollatt E. , Sutherland G. R.
Published: July 2010

Two new cases of familial paracentric inversions, 46, XY, inv(3)(p21.1p25) and 46, XY, inv(7) (q22.3q36.1) are presented. A review of published cases suggests that prenatal diagnosis for carriers of paracentric inversions is not warranted. However, care must be exercised in eliminating the possibility of insertions.
Familial recurrence of terminal transverse defects of the arm
Authors: Pauli Richard M. , Lebovitz Ruth M. , Meyer R. Daniel
Published: July 2010

Three families in which relatives were concordant for upper limb terminal transverse defects are described. These families and previously reported ones with similar recurrence of terminal transverse defects are reviewed and analyzed. It is suggested that, at least in part, the patterns of relatedness for these recurrences more likely are the result of a genetic contribution to the development of this birth defect, rather than such recurrences being solely due to chance.
Tandem duplication of 10(q21‐q22) in a mentally deficient man
Authors: Reinthaller A.
Published: July 2010

A mentally retarded man with congenital malformations, carrying a tandem duplication of 10(q21‐q22) is reported. The clinical picture is compared with the description of previously reported cases and the possible origin of the aberrant chromosome is discussed.
Autosomal recessive congenital cerebellar hypoplasia
Authors: Wichman Alison , Frank L. Matthew , Kelly Thaddeus E.
Published: July 2010

We report three sibling pairs with congenital cerebellar hypoplasia. All six children presented in the first years of life with delays in motor and language development. All patients showed cerebellar and/or vermal dysfunction and, on formal psychometric testing, cognitive abilities ranged from normal to moderately retarded. Abnormalities on CT scan ranged from prominent valleculla to an enlarged cisterna magna with hypoplasia of the cerebellar hemispheres and vermis. The pedigrees are consistent with autosomal recessive inheritance.
On the paradoxically high relative prevalence of osteogenesis imperfecta type III in the Black population of South Africa
Authors: Beighton P. , Versfeld G. A.
Published: July 2010

In a survey of Black patients with osteogenesis imperfecta (OI) attending the Baragwanath Hospital, Johannesburg, the severe autosomal recessive OI type III was recognized in 21, of whom 18 lived in the Johannesburg area. By contrast only 5 had the ostensibly common mild autosomal dominant OI type I. The estimated minimum population frequency is 0.6 per hundred thousand for OI type III in this group and 0.1 per hundred thousand for OI type I. These figures are the reverse of those calculated for White Australians, where the ratio between OI type I and III is of the order of 7 to 1. This anomalous situation has important genetic and practical implications.
Partial deletion of the short arm of chromosome 3 (3p25 → 3pter) Further delineation of the clinical phenotype
Authors: Witt David R. , Biedermann Brian , Hall Judith G.
Published: July 2010

Clinical descriptions of individuals with partial deletion of the distal short arm of chromosome three have been reported rarely. A characteristic phenotype has been proposed. We present another patient with this cytogenetic abnormality whose physical and developmental features show similarities with, as well as differences from, previously reported cases. This suggests that the clinical phenotype requires further definition. In addition, gene dosage studies were undertaken on several serum proteins in order to try to map the location of the responsible genes on chromosome three.
Velo‐cardio‐facial syndrome presenting as holoprosencephaly
Authors: Wraith J. E. , Super M. , Watson G. H. , Phillips M.
Published: July 2010

A baby with holoprosencephaly and the tetralogy of Fallot is described. The mother had operative correction of the same cardiac lesion and shows features typical of the velo‐cardio‐facial syndrome, an autosomal dominant disorder. The association between holoprosencephaly and this condition has not been previously reported. When holoprosencephaly is found associated with congenital heart disease, velo‐cardio‐facial syndrome should be sought in other family members.
Linkage of transcobalamin II (TC2) to the P blood group system and assignment to chromosome 22
Authors: Eiberg H. , Møller N. , Mohr J. , Nielsen L. S.
Published: July 2010

The linkage relationships of transcobalamin II (TC2) against 64 other marker systems are studied in a Danish family material (families 604–1505). A strong indication of linkage between TC2 and the blood group system P was discovered (ž= 7.91 at θ=0.14 for males and θ=0.20 for females combined). Accordingly, TC2 could be assigned to chromosome 22 (since blood group P has earlier been assigned to this chromosome).
Linkage between the loci for cystic fibrosis and paraoxonase
Authors: Schmiegelow K. , Eiberg H. , Tsui L. ‐C. , Buchwald M. , Phelan P. D. , Williamson R. , Warwick W. , Niebuhr E. , Mohr J. , Schwartz M. , Koch C.
Published: July 2010

In a material of 22 Danish, 26 Canadian, 10 Australian, 5 English and 5 American families with at least 2 children affected with cystic fibrosis (CF) a combined positive LOD score of 3.46 was found for the relationship cystic fibrosis‐paraoxonase (PON) at recombination fractionθ=0.07 in males and θ= 0.13 in females. Assuming a three allele model for PON the LOD score was 4.50 at the same recombination fractions. This confirms our earlier finding of an indication of CF‐PON synteny.
Whole‐arm t (X;17) (Xp17q;Xq17p) and gonadal dysgenesis
Authors: Rivera H. , Eníuquez‐Guerra M. A. , ROLÓN A. , JIMÉNEZ‐SÁINZ M. E. , Núñez‐Gonzalez L. , Cantú J. M.
Published: July 2010

A 19‐year‐old female patient with gonadal dysgenesis and a de novo t(X;17) (Xp17q;Xq17p) is described. Since the critical segment Xq13 → q26 was intact, this case is a further exception to the critical region hypothesis.
Tricho‐rhino‐phalangeal syndrome without exostoses, with an interstitial deletion of 8q23
Authors: Goldblatt J. , Smart R. D.
Published: July 2010

We report on a patient with the Tricho‐Rhino‐Phalangeal syndrome (TRPS) with normal mentation, without exostoses and with a partial microdeletion of 8q23. Although she had the phenotypic characteristics of TRPS Type I, karyotypic analysis demonstrated the 8q‐microdeletion usually associated with TRPS Type II, in which exostoses are present. Our patient represents the second reported instance of this phenotypic chromosomal association and provides further evidence for homogeneity of the TRPS.
De novo del(4) (p15.32) with incomplete expression of the Wolf‐Hirschhorn syndrome
Authors: Castro‐Felix L. P. , RamSrez M. L. , Valera‐Huezo S. , Matute E. , Rivas F. , Rivera H. , Moller M. , Cantu J. M.
Published: July 2010

A 7 7/12‐year‐old girl with a de novo deletion 4p15.32→ pter without the typical Wolf‐Hirschhorn syndrome (WHS) is presented. This observation and others from medical literature suggest that monosomy 4p15.31→ 4p15.32, rather than 4p16, is the cause of the typical WHS.
Typing of families with classical phenylketonuria using three alleles of the Hindlll linked restriction fragment polymorphism, detectable with a phenylalanine hydroxylase cDNA probe
Authors: Speer A. , Dahl H.‐H. , Riess O. , Cobet G. , Hanke R. , Cotton R. G. H. , Coutelle Ch.
Published: July 2010

A human phenylalanine hydroxylase cDNA clone was isolated from a human liver cDNA library. The size of the cDNA insert is approximately 2.4 kb and appears to be a near full length copy of a phenylalanine hydroxylase mRN A. This cDN A was used to probe for Hindlll restriction enzyme polymorphisms in heterozygote typing of families with phenylketonuria. The use of three alleles of this polymorphism, as opposed to the two alleles as previously described, increases the informativity for typing ‐ and therefore also for prenatal diagnosis ‐in certain families from 75% to 100%.
First trimester chorionic villi sampling and direct chromosome preparations
Authors: Tharapel A. T. , Dacus J. V. , Tharapel S. A. , Dempsey J. , Flinn G. , Shaver D. C. , Massouda D. , Wilroy R. Sid
Published: July 2010

Chorionic villi sampling was performed on 52 patients prior to elective termination of their pregnancies. Villi were obtained in 42, and direct chromosome preparations were successful in 41 of them. The use of a mixture of 0.075 M potassium chloride and 1% sodium citrate in the ratio of 2:1 for hypotonic treatment and 40% acetic acid for cell dispersal yielded chromosomes with good morphology and G‐bands.
Craniofrontonasal dysplasia: clinical and genetic analysis
Authors: Sax Christina M. , Flannery David B.
Published: July 2010

We have identified a case of craniofrontonasal dysplasia which demonstrates the potential lethality of this gene. Genetic analysis of this pedigree and nine others reveals that craniofrontonasal dysplasia does not follow a Mendelian mode of inheritance and may be a human mutation analogous to the T‐locus of mice.
Usher syndrome in four Norwegian counties
Authors: Grøndahl Jan , Mjøen Svein
Published: July 2010

Among 89 probands selected for tapeto‐retinal degeneration, 18 (20%) were given the diagnosis of Usher syndrome. Among the relatives of the probands another 10 cases of Usher syndrome were found.

The distribution on type diagnoses was: Usher syndrome type I: 14 cases, type II: 10 cases and type III: four cases. The pattern of inheritance was autosomal recessive for 12 families, and the remaining six probands were solitary cases without consanguinity between the parents.

There was a high intrafamiliar correlation with respect to hearing function, indicating genetic heterogeneity in Usher syndrome.

Obligate heterozygotes did not demonstrate heterozygote manifestation.

One man with Usher syndrome type I was psychotic, the remaining 27 did not demonstrate serious psychic disturbances. Atactic gait was not observed, though vestibular response was abolished in three patients with Usher syndrome type I. Three patients with type II and one person with type III had normal vestibular response.

The prognosis for visual function was not highly correlated to the type diagnosis or to the age when hemeralopia was first noticed. Visual function was good before 30 years of age and bad in most patients after the age of 50.
High resolution chromosome results in retinoblastoma families
Authors: Emslie J. , Davison E. V. , Roberts D. F.
Published: July 2010

In three families in the North of England, where retinoblastoma is transmitted, 41 members were studied by high resolution chromosome banding at the 500+ and 900+ levels. None of the 10 affected individuals or their normal relatives showed any deletion in the 13q14 region.
Increased levels of apo‐transcobalamins I and II in amniotic fluid from pregnant women with previous neural tube defect offspring
Authors: Magnus P. , Magnus E. M. , Berg K.
Published: July 2010

In an attempt to identify biochemical components of the genetic predisposition to neural tube defects (NTDs), levels of folate, cobalamin, apo‐transcobalamins I and II and a‐fetoprotein were studied in midtrimester amniotic fluid from 24 pregnant women who had previously had a child with NTD. The control group consisted of 76 mothers, subjected to amniocentesis for reasons other than risk of NTD in offspring. Only pregnancies with normal outcome were included. No differences were found between groups for levels of folate, cobalamin or a‐fetoprotein. Folate intake or metabolism did not appear to differ between groups. In contrast, the level of apo‐transcobalamin I was doubled and the level of apo‐transcobalamin II tripled in amniotic fluid from women who had had a child with NTD compared with the control group. Since the variation in apo‐transcobalamin II in adults is to a high degree genetically determined, the present results may suggest that the genetic predisposition to NTD is associated with variation in this protein. Further studies are needed to substantiate or reject this possibility.
The Johanson‐Blizzard syndrome: report of a new case with special reference to the dentition and review of the literature
Authors: Zerres K. , Holtgrave E. ‐A.
Published: July 2010

We report a new case of Johanson‐Blizzard syndrome. The clinical findings with special reference to the dentition are discussed, and the literature is reviewed. The reported case underlines the heterogeneity of ectodermal dysplasias mentioned by Freire‐Maia (1971).
Autosomal dominant onychodystrophy and anonychia with type B brachydactyly and ectrodactyly
Authors: Kumar D. , Levick R. K.
Published: July 2010

A family is reported with nail dysplasia and/or absent nails, long and broad finger‐like thumbs, camptodactyly and absent fingers. Radiological studies revealed hypoplasia of metacarpals, metatarsals and distal phalanges. Two affected individuals have absent metacarpals and phalanges. The clinical and radiological features may constitute a distinct syndrome of autosomal dominant onychodystrophy and anonychia with Julia Bell brachydactyly type B.
Familial supernumerary non‐satellited microchromosome
Authors: Tsukahara M. , Endo F. , Aoki Y. , Matsuo K. , Kajh T.
Published: July 2010

A small, non‐satellited and metacentric supernumerary chromosome was ascertained in an amniotic fluid cell culture. The supernumerary chromosome was present in four of seven family members karyotyped. Of these four carriers, two were phenotypically normal, while the other two, the fetus and its elder sister, suffered from methylmalonic acidemia. The supernumerary chromosome was apparently stable, being transmitted through three generations without causing mosaicism. It had a single C band, seven G bands and was silver staining negative, a hitherto undescribed situation.
Frequency of rare fragile sites among mentally subnormal schoolchildren
Authors: Kähkönen M. , Leisti J. , Thoden C.‐J. , Autio S.
Published: July 2010

The frequency of rare fragile sites was studied among 240 children in special schools for subnormal intelligence (IQ 52–85). 1/130 boys studied (0.8%) had the fragile site at Xq27.3 while it was not found in any girl (0/110). In two children an autosomal rare fragile site at 2ql 1.2 (2/240, 0.8%) was seen. In addition a constitutional chromosome abnormality was found in a further seven children (7/240, 2.9%).
First trimester diagnosis of Pompe's disease (glycogenosis type II) with normal outcome: assay of acid α‐glucosidase in chorionic villous biopsy using antibodies
Authors: Grubisic A. , Shin Y. S. , Meyer W. , Endres W. , Becker U. , Wischerath H.
Published: July 2010

Prenatal diagnosis of glycogenosis type II was performed by direct assay of acid α‐glucosidase (EC 3.2.1.20) in chorionic villous biopsy obtained by transcervical cannula aspiration from a pregnancy at risk in the 10th week of gestation. The exact value of the enzyme activity estimated by the use of antibody preparations for purified human liver acid α‐glucosidase was in the heterozygous range, and so the homozygous enzyme deficiency could be excluded. The subsequent analysis of cells cultured from amniocentesis sampling in the 18th week of gestation resulted in a similar outcome. The study with antibodies showed that in 23 control chorionic villi obtained during gestational ages between 7–13 weeks, 1–15% of the total a‐glucosidase activity at pH 4.0 were due to renal or neutral enzyme. This indicates that it may be important to employ antibodies for prenatal diagnosis using chorionic villous sampling.

A healthy and unaffected boy was born. The biochemical values obtained from an umbilical blood specimen were in accordance with the results of the prenatal diagnosis.
Effect of sibship position on reproductive behavior of couples after the birth of a genetically handicapped child
Authors: Steele M. W. , Rosser L. , Rodnan J. B. , Bryce M.
Published: July 2010

We compared the reproductive behavior of 132 white married couples of whom 44 had a child with cystic fibrosis, 44 with either Down Syndrome or neural tube defect, and 44 with cerebral palsy to that of the general USA white married population. The three groups of couples were similar respecting race, religion, maternal age, parental occupation and education, and sex of affected child. Most couples had received some genetic counseling and all were followed for at least 3 years after diagnosis of the affected child. Regardless of the degree of recurrent risk and availability or not of prenatal diagnosis, couples were several fold more likely to reproduce again when the affected child was the 1st rather than later born. From this study and others, we conclude that the three major determinators of reproductive behavior in couples after having a genetically handicapped child are the same as those for the general population. Specifically, these are: (1) parental desire for children, (2) past reproductive experiences (that is, sibship size and perhaps also outcome), and (3) maternal age.
The Cowden syndrome: a clinical and genetic study in 21 patients
Authors: Starink Th. M. , Veen J. P. W. van der , Arwert F. , Waal L. P. de , Lange G. G.de , Gille J. J. P. , Eriksson A. W.
Published: July 2010

An analysis of the findings in 21 patients with the Cowden syndrome or the multiple hamartoma syndrome is presented. The Cowden syndrome is a cancer‐associated genodermatosis with characteristic mucocutaneous findings and a wide array of associated abnormalities including a high incidence of breast cancer in female patients. Genetic studies confirmed autosomal dominant inheritance with a high penetrance in both sexes and moderate interfamilial and intrafamilial differences in the expressivity of a number of symptoms. Familial occurrence was present in 4 of the 7 families. There was a strong predominance of female patients (6:1), which may be fortuitous. Mucocutaneous changes were the most constant (100% incidence) and characteristic findings; they almost invariably became manifest in the second decade. Four of our 18 female patients (22%) were treated for breast cancer, a lower incidence than reported previously. No increased incidence of other types of malignancies was found. Craniomegaly (high head circumference) was found to be the most common extracutaneous manifestation (80% incidence); craniomegaly appears to be an important early marker. We also found high incidences of gastrointestinal polyps (approximately 60%) and cutaneous fibromas (76%), while the incidence of thyroid abnormalities, thus far regarded as the most common extracutaneous finding, was similar to that reported previously (62%). G‐banded karyotype and preliminary DNA‐repair studies revealed no clear abnormalities. No linkage with the loci of HLA, and immunoglobulin haplotypes was found.
Copper‐measurement in a muscle‐biopsy. A possible method for postmortem diagnosis of Menkes disease
Authors: TØNNESEN T. , Müller‐Schauenburg G. , Damsgaard E. , Horn N.
Published: July 2010

A 5‐month‐old boy showed severe delay in mental and motor development. His hair was normal. He died at 18 months from bronchopneumonia. Autopsy of the brain revealed meningo‐cerebral angiodysplasia with tortuous vessels at the surface of the brain. This raised a suspicion of Menkes disease.

A muscle‐biopsy, the only remaining tissue from the patient, showed an increased copper‐content, thus corroborating the suspicion of Menkes disease. Copper‐uptake studies on 2 independent repeatedly tested fibroblast‐cultures from the mother gave normal values in 4 and elevated levels in three tests. Such a pattern is often seen in carriers of Menkes disease. Furthermore one of the test values was above the critical limit. Just one value above this limit for females from families with Menkes disease will unequivocally classify a woman as a carrier irregardless of her genetic risk.

This is to our knowledge the first time copper‐measurements in tissues have been used to establish a post‐mortem diagnosis of Menkes disease.
A simple technique for recording and counting sweat pores on the dermal ridges
Authors: O'Leary E. , Slaney J. , Bryant D. G. , Fraser F. C.
Published: July 2010

A simple method was devised for recording dermatoglyphics in a form suitable for sweat pore counting. Fifteen members of a family with a hypohidrotic X‐linked ectodermal dysplasia made their own hand prints using our method and mailed the results to us for interpretation. The simplicity of the technique also makes it practical to use on new‐born males at risk for the condition, or where dermatoglyphic records are required for other purposes. Preliminary data suggest that patchiness of sweat pore distribution on the fingers and palms may be useful in the discrimination of heterozygotes.
A de novo translocation in a family with a balanced reciprocal chromosomal translocation
Authors: Short M. Priscilla , Gilbert Fred , Hirschhorn Kurt
Published: July 2010

A carrier of a reciprocal translocation between chromosomes 10 and 18 had a child with a reciprocal translocation involving different segments of the same chromosomes. The categories of possible meiotic errors in carriers of balanced rearrangements must, therefore, be expanded to include new reciprocal translocations.
A family with congenital suprabulbar paresis (Worster‐Drought syndrome)
Authors: Patton M. A. , Baraitser M. , Brett E. M.
Published: July 2010

A three generation family is described in which four members were found to have congenital suprabulbar paresis (Worster‐Drought syndrome). It is suggested that some cases of congenital suprabulbar paresis are inherited as an autosomal dominant trait with variable expression and penetrance.
X‐linked short stature with skin pigmentation: evidence for heterogeneity of the Russell‐Silver syndrome
Authors: Partington M. W.
Published: July 2010

A family is described with a syndrome of short stature, abnormal pigmentation of the skin and mild facial dysmorphism. The short stature and pigmentary anomalies were more marked in the males than the females. The pattern of inheritance appeared X‐linked. In 2 young brothers the clinical picture mimicked that of the Russell‐Silver syndrome. It is suggested that the Russell‐Silver syndrome is heterogeneous and that the criteria for its diagnosis need re‐evaluation.
Psychosocial adjustment of adult women with Turner syndrome
Authors: McCauley Elizabeth , Sybert Virginia P. , Ehrhardt Anke A.
Published: July 2010

This paper presents results from a detailed assessment of the psycho‐social adaptation of a group of adult women with Turner syndrome. Thirty subjects, 21 to 48 years of age, participated in an evaluation of social and psychiatric status. The evaluation included a semi‐structured interview designed to assess current social functioning and past psychiatric and social history. Subjects completed two self‐report questionnaires as well: the Tennessee Self‐Concept Scale and the Carroll Rating Scale for Depression. The results reveal a significant subgroup of subjects reporting major psychiatric difficulties and endorsing a considerably impaired sense of self‐esteem. These women presented as very dissatisfied with themselves and their lives. These findings are not consistent with previous reports in which women with Turner syndrome have been described as having an unusually high tolerance for stress and being emotionally inert.
The spectrum of clinical features in CHARGE syndrome
Authors: Davenport Sandra L. H. , Hefner Margaret A. , Mitchell Joyce A.
Published: July 2010

Fifteen patients with CHARGE syndrome are described, nine sporadic and six familial. A recognizable pattern of malformations is present which appears to constitute a syndrome rather than a non‐random association. In addition to acronymic features of Coloboma, ifeart disease, Atresia of the choanae,.Retarded growth and development, Genital hypoplasia, and Ear anomalies, other important diagnostic features include facial paralysis and feeding problems suggestive of velopharyngeal incompetency. A square facial appearance with asymmetry and malar flattening is characteristic, and long philtrum or prominent nasal columella may be present. Characteristic external ear anomalies and a ‘wedge’‐shaped audiogram may be unique to this syndrome. Short stature and hypogonadism with genital hypoplasia is pituitary or possibly hypothalamic in origin. Each feature varies from normal to severe involvement including mental function, and no single feature appears to be necessary for diagnosis.
Gonadoblastoma and Y‐chromosome fluorescence
Authors: Lukusa T. , Fryns J. P. , Berghe H. van den
Published: July 2010

In this report we summarize our experience in 4 patients with 45, X/46, XY, one patient with 45, X/47, XYY mosaicism, and one patient with 46, XY karyotype and ambiguous external genitalia. In the 3 patients with a fluorescent Y‐chromosome, the development of one or two gonadoblastomas was found, independent of the age of the patients at the time of examination. In the 3 patients with 45, X/46, XYnf mosaicism no gonadoblastoma was detected. This finding prompted us to review the data on patients reported with 45, X/46, XYnf mosaicism.

Up to now, no patient with well documented 45, X/46, XYnf mosaicism and convincing evidence of development of gonadoblastoma has been reported. These data seem to confirm that alterations of the characteristic distal fluorescence of Yq may protect the dysgenetic gonad against tumoral degeneration in patients with 45, X/46, XY mosaicism. Possible mechanisms responsible for these changes in the oncogenic potential of Yq in relation with the Y chromosome fluorescence are discussed.
Trichodermodysplasia with dental alterations: an apparently new genetic ectodermal dysplasia of the trichoodonto‐onychial subgroup
Authors: Pinheiro Marta , Freire‐Maia Dértia V. , Miranda E. , Silva‐Filho O. G. , Maia N. Freire‐
Published: July 2010

A mother and two children with trichodysplasia, hypodontia, onychodysplasia (not present in the mother), mild skin alterations, bilateral inward deflection of the 4th toes, and other findings are described. This is an ectodermal dysplasia of the tricho‐odonto‐onychial subgroup probably due to an autosomal dominant gene.
Spastic paresis, glaucoma and mental retardation ‐ a probable autosomal recessive syndrome?
Authors: Chenevix‐Trench G. , Leshner R. , Mamunes P.
Published: July 2010

A syndrome of spastic paresis, mental retardation and glaucoma has been described only once previously (Heijbel & Jagell 1981). We describe three brothers, products of a marriage between first cousins once‐removed, who appear to have the same syndrome. The brothers are not dysmorphic but they have slowly progressive spastic diparesis, moderate mental retardation and glaucoma with secondary cataracts. Documentation of a second consanguineous kindred with this triad of features supports the view that this is a distinct entity with an autosomal recessive mode of inheritance.
A racial difference in apolipoprotein E allele frequencies between the Japanese and Caucasian populations
Authors: Eto M. , Watanabe K. , Ishii K.
Published: July 2010

We have examined the apo E phenotype frequencies in the Japanese population (n = 576, 16–78 years of age). Apo E phenotypes were determined by the rapid flat gel isoelectric focusing method that we previously reported. The apo E phenotype frequencies in the Japanese were 0.3% for E2/2, 6.1% for E3/2, 71.9% for E3/3, 0.7% for E4/2, 19.3% for E4/3 and 1.7% for E4/4. The apo E allele frequencies were 0.037, 0.846 and 0.117 for the e2, e3 and e4 alleles, respectively. These frequencies were compared with those in the Caucasian populations (n = 3033) reported by Sing & Davignon (1985). There was a significant difference in the apo E phenotype frequencies between the Japanese and Caucasian populations. In addition, a significantly lower frequency of the e2 and e4 alleles and a significantly higher frequency of the e3 allele were found in the Japanese than those reported for the Caucasian populations. It is concluded that there is a racial difference in the apo E allele frequencies between the Japanese and Caucasian populations.
Ehlers‐Danlos features with progeroid facies and mild mental retardation
Authors: Hernández Alejandro , Aguirre‐Negrete María Guadalupe , González‐Flores Silvia , Reynoso‐Luna Martha Celina , Fragoso Rubén , Nazará Zamira , AND Guadalupe Tapia‐Arizmendi , Cantú Jose María
Published: July 2010

A syndrome characterized by progeroid facies, multiple nevi, mild mental retardation, skin hyperextensibility, bruisability, moderate skin fragility, joint hypermobility principally in digits, is described in two unrelated patients. Electron microscopy of the skin showed some fragmentation of the elastic fibers' fibrous portion and moderate electrodensity in the amorphous portion. Since a practically identical constellation of clinical features was previously reported in three patients, the individualization of a distinct connective tissue disorder, probably autosomal dominant, with variable expressivity is concluded.
Weill‐Marchesani syndrome in mother and son
Authors: Young I. D. , Fielder A. R. , Casey T. A.
Published: July 2010

A mother and son, each showing the characteristic features of the Weill‐Marchesani syndrome, are described. It is suggested that this family provides further evidence for genetic heterogeneity in this condition.
Client reactions to genetic counseling: self‐reports of influence
Authors: Wertz Dorothy C. , RSorenson James
Published: July 2010

Of 628 clients completing questionnaires six months after genetic counseling, 273 (43.5%) reported that their reproductive plans had been influenced by the counseling session. Of those who said that they were influenced, 144 (52.7%) held the same reproductive plans that they reported before counseling: 41 (15%) were planning more pregnancies, 36 (13.2%) were planning fewer, and 52 (19.1 %) became reproductively uncertain. A similar pattern of stability and change appeared in the reproductive plans of those who reported that they were not influenced by genetic counseling. Stepwise logistic regression indicated that clients who reported that their plans were influenced: (1) came to counseling to get information for making a decision about whether to have a child; (2) discussed this decision in depth with the counselor; and (3) had more education than clients who said that they were not influenced. We found no evidence that counseling was supplanting clients' own personal values. In the discussion, we suggest several reasons why clients of higher socio‐economic status are more likely than others to report that they are influenced, and discuss the ethical implications of these results.
Trisomy (18q) and tetrasomy (18p) resulting from isochromosome formation
Authors: Kleczkowska A. , Fryns J. P. , Buttiens M. , Bisschop F. de , Emmery L. , Berghe H. Van den
Published: July 2010

In this paper we report two clinically recognizable chromosomal syndromes, both resulting from isochromosome 18 formation, i.e. trisomy 18q and tetrasomy 18p. The possible mechanisms of the isochromosome formation are discussed and the literature on subject is reviewed.
“Unclassifiable” weak A blood group and deficient H phenotype (Hm) in one pedigree
Authors: Light Jan , Wenk Robert E. , Greenwell Pamela
Published: July 2010

A new variant of blood group A [A(WAS)] was expressed in three generations of a Caucasian family: Phenotype included weak mixed field hemagglutination by anti‐A reagents, secretion of H substance, and presence of anti‐Ai in serum. The A(WAS) variant was inherited in a Mendelian fashion, dominant to O. A‐transferase activity was absent from cells and saliva but was 0.2% of normal A, transferase activity in serum, with a pH optimum of 6.0. Family members expressing A(WAS) also demonstrated partly deficient H type on cells (Hm). H‐transferase activity in serum was normal for a weak A subgroup and showed typical Km and acceptor specificities. Linkage of H‐modifier and ABO loci cannot be excluded.
Triphalangeal thumb and brachy‐ectrodactyly syndrome
Authors: Silengo M. Cirillo , Biagioli M. , Bell G. Lopez , Bona G. , Franceschini P.
Published: July 2010

Two patients with triphalangeal thumbs‐ectrodactyly syndrome are described.

The first case is a 4‐year‐old female with triphalangeal thumbs, preaxial Polydactyly with rudimentary Polydactyly of the 3rd finger of the right hand and ectro‐syndactyly of feet. Her stillborn sister had triphalangeal thumbs and ectrodactyly of feet. The mother has triphalangeal thumbs, brachysyndactyly of the left foot and ectro‐syndactyly of the right one. The maternal grandmother has syndactyly of 1st, 2nd, 3rd toes and hypoplasia of the 3rd toe on the right foot.

The second case is sporadic and shows triphalangeal thumbs, preaxial Polydactyly of the right hand and bilateral lobster‐claw feet.

Our observations confirm the variability of clinical expression and support the autosomal dominant inheritance of the syndrome.
Bloom's syndrome with porokeratosis of Mibeili and multiple cancers of the skin, lung and colon
Authors: Takemiya Masataka , Shiraishi Satoshi , Teramoto Tatsuyuki , Miki Yoshiharu
Published: July 2010

A 38‐year‐old Japanese male with Bloom's syndrome (BS) and porokeratosis of Mibeili (PM) developed multiple carcinomas of the skin and lung. There were multiple, spontaneous chromosomal aberrations and frequent sister chromatid exchanges (SCE). Cutaneous delayed‐type hypersensitivity reactions were defective and serum IgM was decreased. The lung cancer was treated with radiation, which was effective but caused a severe pulmonary atelectasis and esophageal stricture. The patient expired one‐and‐a‐half years later because of pneumonia. Autopsy disclosed an adenocarcinoma of the colon. The concurrent PM was considered responsible for the occurrence of multiple skin cancers.
Chromosomal aberrations in 85 mentally retarded patients examined by high resolution banding
Authors: Tengstrqm Carola , Autto Seppo
Published: July 2010

Eighty‐five mentally retarded patients had their chromosomes examined by using the high resolution banding techniques. Fifty‐nine of them had multiple congenital anomalies and/or dysmorphic features. Twenty‐six had mental retardation but no major anomalies; they were primarily suspected of having the fragile X syndrome. This suspicion was first excluded. Fifteen patients were found to have a chromosome aberration, interpreted as clinically significant. Eleven of them had been examined earlier by conventional methods. The aberrations found were divided into three groups: (I) those detectable with an accuracy of ca. 300–400 bands (N = 4), (II) those detectable with an accuracy of ca. 400–550 bands (N = 6) and (III) those detectable with an accuracy of ca. 550–850 bands (N = 5). The aberrations are described and discussed.
Robinow syndrome: report of two patients and review of literature
Authors: Butler Merlin G. , Wadlington William B.
Published: July 2010

We report two patients with Robinow or fetal face syndrome. We present a thirteen year follow‐up on three previously published cases and a review of 32 cases in the literature. The cardinal features of this condition include mesomelic shortening of the forearms, frontal bossing, hypertelorism, wide palpebral fissures, short upturned broad nose with anteverted nares, long philtrum, small chin, brachydactyly, hypoplastic genitalia and a normal karyotype. Development delay and mental retardation was noted in 18% of the reported cases. Early death was identified in about 10% of the cases. Genetic heterogeneity is suggested with autosomal dominant inheritance reported in 8 individuals from 3 families and autosomal recessive inheritance in 8 siblings from 4 families although no clinical differences were identified among those individuals with different inheritance patterns. Male to male transmission was reported in one family. Parental age does not appear to be a factor in the cause of this syndrome.
Centromeric instability of chromosomes 1, 9 and 16 with variable immune deficiency. Support of a new syndrome
Authors: Valkova Grozdana , Ghenev Evgheny , Tzancheva Maria
Published: July 2010

A four‐month‐old girl with facial dysmorphism, moderate mental retardation, immune deficiency (decreased IgG and IgA and absence of IgM), centromeric instability of chromosomes 1, 9, 16 and very rarely of chromosome 2, and disposition to formation of multibranched chromosomal figures, is described. The case is the fifth described with such chromosomal and immune abnormalities, which prove the existence of a new syndrome. The authors suggest an autosomal recessive inheritance.
Roberts syndrome and SC phocomelia. A single genetic entity
Authors: Römke Christiane , Froster‐Iskenius Ursula , Heyne Klaus , Höhn Wolfram , Hof Marita , Grzetszczyk Grzegorz , Rauskolb Rüdiger , Rehder Helga , Schwinger Eberhard
Published: July 2010

A family with three siblings showing different manifestations of Roberts syndrome or SC phocomelia is described. With regard to previously published cases of familial Roberts syndrome and SC phocomelia we conclude that these two syndromes are one and the same genetic entity.
A new interstitial deletion of chromosome No. 4 del(4) (q22::q25)
Authors: Butler L. J. , Palmer A. V. , Spencer T. , Tabios‐Broadway R. , Wall W. J.
Published: July 2010

A female child is described with multiple anomalies including epicanthus, frontal bossing, short sternum, Polydactyly, cleft of the larynx, renal cysts, and unusual dermatoglyphics. She died aged 3 months and was found to have a unique de novo deletion of chromosome No. 4 (q22 ‐ q25). This case is compared with other long arm deletions of 4q and reference made to assignment of genetic markers to chromosome No. 4.
Kallmann syndrome associated with choanal atresia
Authors: Klein Victor R. , Friedman Jan M. , Brookshire Gail S. , Brown Orval E. , Edman Clare D.
Published: July 2010

Kallmann syndrome is defined by the association of hypogonadotropic hypogonadism and anosmia. A previously unreported association of Kallmann syndrome and choanal atresia in a family is reported. The mechanism of the embryopathic association of hypogonadotropic hypogonadism, anosmia, and choanal atresia is thought to be due to a single developmental field defect in the region of the median forebrain and associated structures. An irregular autosomal dominant mode of inheritance is suspected.
Proximal 15q variant with normal phenotype in three unrelated individuals
Authors: Brookwell R. , Veleba A.
Published: July 2010

Three individuals, ascertained for differing reasons, were found to have extra material in the proximal long arm of chromosome 15. The abnormal offspring of one of these also carried this chromosome. The extra material appears identical in all four individuals. The occurrence of this variant in patients of normal phenotype indicates that the region q11‐q13 of chromosome 15 contains material which can be duplicated with little effect, unless the gene whose disruption causes Prader‐Willi syndrome is involved at the breakpoint.
Oro‐facial‐digital syndrome II. Transitional type between the Mohr and the Majewski syndromes: report of two new cases
Authors: Silengo M. C. , Bell G. L. , Biagiou M. , Franceschini P.
Published: July 2010

Two patients with the oro‐facial‐digital syndrome II or Mohr syndrome presented laryngeal anomalies and hallucal and postaxial polysyndactyly of the feet. Those rare malformations are typically observed in patients with the Majewski syndrome, a lethal, short rib‐polydactyly skeletal dysplasia with orofacial findings almost identical to those of the Mohr syndrome. Phenotypic overlap between the Mohr and the Majewski syndromes has already been reported in the literature, and it has been suggested that the two syndromes may be mild and severe expressions of the same autosomal recessive disorder. Our two cases give further support to this hypothesis.
Supernumary marker chromosomes in a mentally retarded population identified as in vdup(15)
Authors: KIRKILIONIS A. J. , SERGOVICH F. R.
Published: July 2010

Bisattelited supernumary chromosomes, identified as inv dup(15)s, were detected at a prevalence of 8/1000 among institutionalized, mentally retarded (non‐Down syndrome) males. This finding suggests that the inv dup(15) contributes significantly to the etiology of mental retardation among institutionalized individuals.
Linkage of G8 (D4S10) in two Swedish families with Huntington's disease
Authors: Holmgren G. , Almqvtst E. Winnberg , Anyret M. , Conneally M. , Hobbs W. , Mattsson B. , Wahlström J. , Winblad B. , Gusella J. F.
Published: July 2010

Two Swedish families with Huntington's disease (HD) have been investigated for linkage with G8 (D4S10). In one family from northern Sweden (Family 1) 48 family members were examined, and in another family from the southwestern part of Sweden (Family 2) 14 family members were examined. The lod scores were 1.531 for Family 1 and 2.057 for Family 2, and the combined lod score was 3.59. The HD gene was segregating with the haplotype C in Family 1 and with haplotype A in Family 2. The predictive value of the test was obvious. Before the testing with the G8 probe, 84.2% of the family members in Family 1 had a theoretical risk of 25% or 50% of having the HD gene. After the testing with the G8 probe, only 23.7% of the family members remained at the same risk, and it could also be certified that 63.2% had no or little risk of having the HD gene. Only one asymptomatic person was predicted to have HD.
Familial dysbetalipoproteinemic subjects with the E3/E2 phenotype exhibit an E2 isoform with only one cysteine residue
Authors: Smit Maruke , de Knuff Peter , Frants Rune R. , Klasen Eduard C. , Havekes Louis M.
Published: July 2010

Most familial dysbetalipoproteinemic patients are E2/E2 homozygotes for the apolipoprotein E (apoE) polymorphism, whereas patients with the E4/E2 or E3/E2 phenotype are very rare. Three out of 41 dysbetalipoproteinemic patients from our lipid clinic appeared to be E3/E2 heterozygotes. ApoE protein phenotyping and DNA oligonucleotide hybridization techniques showed that all three patients exhibit an uncommon E2 variant that contains only one cysteine residue. These results suggest that, in contrast to the by far most frequently occurring E2(Arg158→ Cys) allele, heterozygosity for this uncommon E2 allele may cause familial dysbet‐alipoproteinemia. Preliminary family studies suggest that this uncommon E2 allele cosegregates with familial dysbetalipoproteinemia.
Free proximal trisomy 21 without the Down syndrome
Authors: Park Jonathan P. , Wurster‐Hill Doris H. , Andrews Patricia A. , Cooley William C. , Graham John M.
Published: July 2010

Analysis of partial duplication of chromosome 21 suggests that band 21q22 contains determinants for the Down syndrome. We report two cases of free proximal trisomy 21 without manifestations of the Down syndrome. Phenotypic anomalies included marked microcephaly, short stature, hypoplastic nails, and mental retardation/developmental delay. Our cases are consistent with the assignment of band 21q22 as the causal duplicated segment in the Down syndrome.
Pitted enamel hypoplasia in tuberous sclerosis patients and first‐degree relatives
Authors: Lygidaias N. A. , Lindenbaum R. H.
Published: July 2010

Thirty‐six families with tuberous sclerosis (TS) including 49 affected persons and 68 apparently unaffected first‐degree relatives were examined for dental abnormality. Fifty unrelated controls were similarly examined. Clinically observed multiple enamel pits (pitted enamel hypoplasia) were noted in 71% of persons with typical TS and in one out of 10 “atypical” cases.

Enamel pits were rarely seen, and in small numbers only, in the control series, and they were rare in the otherwise apparently normal TS first‐degree relatives. However, one parent and one half‐sib of persons with typical TS, but themselves without other signs of TS, were found to have multiple enamel pits. Examination for pitted enamel hypoplasia should be made in all persons suspected of having TS and in all close relatives; enamel pits are a valuable clinical sign and may identify otherwise unsuspected carriers of the gene within the family.
Relative effect of parental birth weight on infant birth weight at term
Authors: Langhoff‐Roos Jens , Lindmark Gunilla , Gustavson Karl‐Henrik , Gebre‐Medhin Mehari , Meirik Olav
Published: July 2010

The relations between some hereditary and environmental factors and the variation in infant birth weight were estimated by multiple linear regression analyses on a sample of 276 Scandinavian single term pregnancies.

Gestational age explained 10.9%, fetal factors (maternal and paternal birth weights and fetal sex) 7.9%, maternal factors (parity, pre‐pregnancy weight and height) 5.5% and external factors (adjusted weight gain and smoking) 5.8% of the variation in infant birth weight.

It is concluded that maternal and paternal birth weights are rather poor predictors of infant birth weight. Together they explain only 5.6% of the variation in infant birth weight at term.
Prenatal diagnosis of glycerol‐kinase deficiency associated with a DNA deletion on the short arm of the X‐chromosome
Authors: Børmsen A. ‐L. , Hellerud C. , Møller P. , Søvik O. , Berg K.
Published: July 2010

Amniocentesis was performed in a woman who previously had given birth to a boy who died at 12 months of age with a diagnosis of glyceroluria and adrenal insufficiency. A high amount of glycerol (9.0 standard deviations above mean for controls) was found in the amniotic fluid. Enzyme activity of glycerol‐kinase (ATP:glycerol‐3‐phosphotransferase, EC 2.7.1.30) in the cultured amniotic fluid cells was very low. The pregnancy was terminated and a male fetus was aborted. Examinations of DNA isolated from the fetus did demonstrate deletions of two out of 16 DNA probes mapping to the short arm of the X‐chromosome. The probes failing to hybridize to DNA from the fetus were C7 (DXS28) and L1.4 (DXS68), both mapping to Xp21.3 and located terminal to the Duchenne locus.
Tetrasomy for the short arm of chromosome 12 with accessory isochromosome (+i(12p)) and a marked LDH‐B gene dosage effect
Authors: Steinbach P. , Rehder H.
Published: July 2010

A fetus with tetrasomy for the short arm of chromosome 12 due to a de novo accessory isochromosome i(12p) is described. Involvement of the 12p in this chromosome aberration was suggested by banding analysis and substantiated by detection of a marked increase of LDH‐B in the fetal fibroblasts.

The syndrome shown by this fetus includes many of the minor anomalies described for live‐born patients with partial trisomy 12p, and in addition malformations including brachymelia, anal atresia and double kidneys.
Incidence of familial dysautonomia in Israel 1977–1981
Authors: Maayan Ch. , Kaplan E. , Shachar Sh. , Peleg O. , Godfrey S.
Published: July 2010

The incidence of all diagnosed cases of familial dysautonomia in Israel among Ashkenazi Jews from 1977–1981 was 27/100,000 or 1/3703. This incidence is higher than that previously reported in Israel in 1967 of 8.3/100,000 (1/12,048) (Moses et al. 1967). It is also higher than that of North American Ashkenazi Jews in 1970, when the rate was 5–10/100,000 (1/ 10,000–20,000) (Brunt & McKusick 1970). This higher incidence could be explained by current awareness of the diagnosis, or by the emergence of more cases.
Inverted tandem duplication generates a duplication deficiency of chromosome 8p
Authors: Dill F. J. , Schertzer M. , Sandercock J. , Tischler B. , Wood S.
Published: July 2010

An adult female with severe mental retardation and dysmorphic features is described. A de novo chromosomal aberration involving 8p was found. The karyotype was 46, XX, inv dup (8) (pl2→p23.1). Dosage studies with the DNA probe D8S7, which is located at 8p23→8pter, showed that the patient was monosomic for this marker. Thus the de novo rearrangement generated a duplication‐deficiency chromosome. The possible mechanisms of formation of this abnormal chromosome are discussed.
Hereditary hypotrichosis simplex of the scalp
Authors: Kohn Gertrude , Metzker Aryeh
Published: July 2010

Hereditary hypotrichosis simplex of the scalp is a rare trait with onset in early childhood. This phenomenon has been reported only once previously, in a Spanish kindred. This communication describes a case in a Jcwish‐Yemenite kindred with 51 affected individuals and confirms autosomal dominant inheritance.