bluuebunny/crossref_metadata_2025 huggingface dataset:
The psychological profile of the fragile X syndrome
Authors: Fryns J. P. , Jacobs J. , Kleczkowska A. , Berghe H. van den
Published: July 2010

An attempt is made to present a more accurate description of the psychological profile of males with the fragile X syndrome after the evaluation of an unselected group of 21 affected patients. Except for one boy with slight mental retardation, all were moderately to severely mentally retarded, with retardation of motor development and pronounced speech disability. The most striking behavioral problem is hyperactivity together with concentration difficulties. A great number of patients show auto mutilation especially with hand biting, and autistic behaviour also appears in some of them.
Diagnostic considerations in arthrogry‐posis syndromes in South Africa
Authors: Gericke G. S. , Hall J. G. , Nelson M. M. , Beighton P. H.
Published: July 2010

Congenital rigidity of multiple joints poses a difficult diagnostic and therapeutic problem. There are also semantic difficulties as the non‐specific term “arthrogryposis” is often used for any individual with congenital limitation of joint movement. Many distinct syndromes present in this way and as they differ in their course, prognosis and genetic implications, diagnostic precision is crucial.

A diagnostic analysis is given of 247 South African patients in whom “arthrogryposis” had been recorded, and the pathogenesis and nosology of congenital contractures are discussed in this paper. Three of these stiff joint conditions were originally described in South African patients, i.e. Liebenberg synostosis syndrome, digitotalar dysmorphism, and the Gordon syndrome of autosomal dominant cleft palate, camptodactyly and club feet.
Autosomal recessive inheritance of Charcot‐Marie‐Tooth disease associated with sensorineural deafness
Authors: Cornell J. , Sellars S. , Beighton P.
Published: July 2010

Three siblings with a combination of sensorineural deafness and the Charcot‐Marie‐Tooth syndrome have been investigated in a consanguineous Indian kindred. This syndrome, which to the best of our knowledge has not previously been reported, is probably inherited as an autosomal recessive trait.
Ring chromosome 10 syndrome: case report and the possibility of clinical diagnosis
Authors: Kondo Ikuko , Shimakura Yae , Hirano Takeki , Kaneko Michio , Yabuta Keijiro
Published: July 2010

A 2‐year‐old boy, whose clinical abnormalities included growth retardation(3rd percentile), mild mental retardation (DQ = 67), microcephaly, hypertelorism, strabismus, prominent nasal bridge, stubby nose, pointed chin, undescended testes and hydronephrosis, had a ring chromosome 10. Using high‐resolution banding technique, the breakpoints were decided at p15.3 and q26.3 of chromosome 10. The clinical features observed in this case were common in 8 other cases with ring chromosome 10 previously reported. Thus, the terminal deletion of both arms of chromosome 10 seems to be the cause of the specific clinical abnormalities. When a patient has the clinical common abnormalities above mentioned, ring chromosome 10 syndrome will be suspected before chromosome analysis.
Is the PiF allele of α1‐antitrypsin as‐sociated with pulmonary disease?
Authors: Beckman Gunhild , Stjernberg Nils L. , Eklund Anders
Published: July 2010

Pulmonary function was studied in thirteen individuals heterozygous for the α1‐antitrypsin allele PiF. Respiratory symptoms were present in seven out of twelve individuals with the FM phenotype, of which five had pulmonary function impairment, mostly of the obstructive type. One patient with the phenotype FZ had bronchitic symptoms and a mild obstructive spirometry pattern. The results suggest a relationship between the PiF allele and chronic obstructive pulmonary disease, which is independent of the serum α1‐AT level.
Partial ornithine transcarbamylase deficiency associated with recurrent hyperammonemia, lethargy and depressed sensorium
Authors: Oizumi Jun , Ng Won G. , Koch Richard , Shaw Kenneth N. F. , Sweetman Lawrence , Velazquez Antonio , Donnell George N.
Published: July 2010

A 6‐year‐old boy presented with recurrent coma associated with hyperammonemia and infection is reported. A liver biopsy revealed decreased ornithine transcarbamylase (OTC) activity (16% of normal). The enzymatic abnormality in the child is supported by the finding of elevated orotic acid excretion in his mother following a protein load, compatible with an X‐linked pattern of inheritance. Since initiation of a dietary arginine supplement, the child has not had recurrent episodes of hyperammonemia.
Partial sweat gland aplasia in incontinentia pigmenti Bloch‐Sulzberger
Authors: Rott H.‐D.
Published: July 2010

Dermatoglyphic investigation of palm prints in patients with Incontinentia pigmenti revealed in five of eight cases a partial ridge dissociation with lack of sweat gland pores. This disease can, therefore, be accepted as a second X‐linked anhidrotic ectodermal dysplasia, which, however, is only segregated in the female.
Fetoscopy in prenatal diagnosis of the Majewski and the Saldino‐Noonan types of the Short Rib‐Polydactyly syndromes
Authors: Toftager‐Larsen K. , Benzie R. J.
Published: July 2010

Fetoscopy was performed in three pregnancies at risk for the Majewski syndrome and in one pregnancy at risk for the Saldino‐Noonan syndrome of the fetus. One case of Majewski syndrome and two normal fetuses were correctly diagnosed. In the remaining case the amniotic fluid was blood‐stained and the fetus could not be visualized. Patients previously carrying a fetus with a Short Rib‐Polydactyly syndrome of the Majewski or Saldino‐Noonan types are at a high risk of recurrence (25%) and should be offered prenatal diagnosis in subsequent pregnancies. Polydactyly is consistently present in these syndromes, and is easily seen through trie fetoscope. Fetoscopy offers a safe and instant diagnosis as early as 15–16 weeks of gestation.
Mentally retarded siblings with congenital heart defect, peculiar facies and cryptorchidism in the male: possible McDonough syndrome with coincidental (X; 20) translocation
Authors: García‐Sagredo J. M. , Lozano C. , Ferrando P. , Román C. San
Published: July 2010

We report on a family in which two of the three children (girl and boy) have a MCA/MR syndrome consisting of peculiar facies, retarded psychomotor development, mental retardation, congenital heart defect, kyphoscoliosis, diastasis recti, and cryptorchidism in the boy. This syndrome is quite similar to that of the only family previously described and which was denominated McDonough Syndrome. The syndrome is delineated and autosomal recessive inheritance is suggested as the most likely etiology.

A balanced translocation (X; 20) in the affected boy and in the unaffected mother was a coincidental finding.
Mandibuloacral dysplasia: a rare progeroid syndrome Two brothers confirm autosomal recessive inheritance
Authors: Pallotta R. , Morgese G.
Published: July 2010

Mandibuloacral Dysplasia would appear to be a very rare syndrome, probably because it is usually mistakenly diagnosed. This article describes the case histories of two brothers, confirming Welsh's (1975) earlier hypothesis concerning autosomal recessive inheritance and makes certain observations which should be helpful in diagnosing this rare hereditary syndrome.
Mosaic tetrasomy 21 in a male child
Authors: Kwee M. L. , Barth P. G. , Arwert F. , Madan K.
Published: July 2010

We report a three‐year‐old male child with dysmorphy, severe mental retardation and a mosaic tetrasomy 21 caused by an extra F‐like chromosome composed of two long arms of chromosome 21. We have compared this unusual case with two other similar published case reports. Hypotheses to account for the origin of the abnormal chromosome and the mosaicism are presented and discussed.
Further evidence for a significant effect of fetal genes on variation in birth weight
Authors: Magnus P.
Published: July 2010

The contribution of fetal and maternal genes to the variation in birth weight was estimated in a sample of5,625 grandchildren of monozygotic and dizygotic twins. Fetal and maternal genetic effects were separated by comparing the covariance structure for offspring of daughters of twins with that for offspring of sons of twins. Only insignificant amounts (3.0%) of the total variance in birth weight could be accounted for by maternal genes, while fetal genes seemed to account for the major part (69.4%) of the variation. Environmental factors common to sibs could explain 8.6% and random environmental factors 19.0% of the total variance. The findings are consistent with the results of an earlier study of birth weight in the same population but differ from findings in other populations.
The manifestations and natural history of spondylo‐epi‐metaphyseal dysplasia with joint laxity
Authors: Beighton P. , Gericke G. , Kozlowski K. , Grobler L.
Published: July 2010

Spondylo‐epi‐metaphyseal dysplasia with joint laxity (SEMDJL) is characterized by severe dwarfism, articular hypermobility and progressive spinal malalignment. The clinical manifestations of 18 affected persons in 13 families of the Afrikans‐speaking community of South Africa have been analysed and it has become evident that survival into adulthood is unusual. SEMDJL is inherited as an autosomal recessive trait.
Endocrine and genetic characterization of cousins with male pseudohermaphroditism: evidence that the Lubs pheno‐type can result from a mutation that alters the structure of the androgen receptor
Authors: Wilson Jean D. , Carlson Barbara R. , Weaver David D. , Kovacs William J. , Griffin James E.
Published: July 2010

Impaired virilization of genetic males with testes (male pseudohermaphroditism) can result either from deficiency in androgen production or defects in androgen action, the latter most commonly involving an abnormal androgen receptor. We report here two maternal cousins with male pseudohermaphroditism and clinical features characteristic of the Lubs phenotype, namely apparent females with sufficient fusion of the labioscrotal folds so that a single urogenital sinus orifice is present. Testosterone levels in these genetic males rose appropriately after administration of human chorionic gonadotropin. The amount (maximal binding capacity of 24 to 30 fmol/mg protein) and hormone binding affinity (half‐maximal saturation of 0.2 nM) of the androgen receptor in cultured skin fibroblasts was normal, but the receptor was qualitatively abnormal as evidenced by instability on sucrose density gradient centrifugation. The pattern of inheritance in this family is compatible with X‐linkage. These findings, together with previous studies, indicate that the spectrum of abnormalities that result from defects of the androgen receptor in genetic men can encompass the entire spectrum between male and female phenotypes.
The Coffin‐Siris syndrome: Report of a family and further delineation
Authors: Haspeslagh M. , Fryns J. P. , van den Berghe H.
Published: July 2010

The familial occurrence of the Coffin‐Siris syndrome, combining a typical facial appearance with hypoplastic or absent fifth finger‐ or toenails, is reported. The full expression of the syndrome was present in two sisters, and partial clinical manifestations were present in their mentally borderline father. The relevant literature is reviewed, and the relation and confusion with other mental retardation syndromes, mainly the Coffin‐Lowry syndrome, is discussed.
The gene for apolipoprotein C‐ll is closely linked to the gene for apolipoprotein E on chromosome 19
Authors: Humphries S. E. , Berg K. , Gill L. , Cumming A. M. , Robertson F. W. , Stalenhoef A. F. H. , Williamson R. , Børresen A.‐L.
Published: July 2010

We have used a common TaqI restriction fragment length polymorphism (RFLP) near the human apolipoprotein C‐II (apoC‐II) gene to study linkage with apolipoprotein E (apoE). The inheritance of the apoC‐II RFLP was followed in seven families that were segregating for apoE protein variants. No recombinants were observed in 20 informative meioses, giving an overall lod score of > 4.0 at recombination fraction 0. We have also observed apparent linkage disequilibrium between apoE and the apoC‐II RFLP. Taken together these results demonstrate that these two apolipoprotein genes are closely linked and confirm that the gene for apoC‐II is on human chromosome 19.
Amniotic fluid analysis in prenatal diagnosis of neural tube defects: a comparison between six biochemical tests supplementary to the measurement of amniotic fluid alpha‐fetoprotein
Authors: Toftager‐Larsen K. , Wandrup J. , Nørgaard‐Pedersen B.
Published: July 2010

Concanavalin A (con A) and lens culinaris agglutinin (LCA) microheterogeneity pattern of AFP (crossed affinity immunoelectrophoresis), alpha‐2‐macroglobulin and synaptic membrane protein D‐2 (rocket immunoelectrophoresis) and qualitative (polyacrylamide gel electrophoresis) and quantitative (enzyme kinetic reaction rate) acetylcholinesterase were analysed in 87 consequtive samples from normal pregnancies and 37 abnormal samples (fetal neural tube defect or abdominal wall defect).

Very few false positive results were obtained in normal pregnancies with any of the tests. In all cases of neural tube defects the correct result was obtained with qualitative acetylcholinesterase analysis, whereas only 2/3 of the abdominal wall defects were correctly predicted. Testing with con A or LCA was less optimal in neural tube defects, whereas all abdominal wall defects could be predicted correctly. Acetylcholinesterase in the quantitative test and protein D‐2 did not decrease the rate of false results. Determination of the alpha‐2‐macroglobulin concentration performed well in the present study, but is not recommended because of the very high susceptibility to contamination of amniotic fluid with fetal or maternal blood.
New anomalies found in the 11q‐ syndrome
Authors: Sirota L. , Shabtai F. , Landman I. , Halbrecht I. , Dulitzky F.
Published: July 2010

The cytogenetic analysis of an infant with multiple congenital anomalies revealed a small deletion of the long arm of one No. 11 chromosome: 46XX del 11 (q23‐q25). The main clinical manifestations included: trigonocephaly, flat broad nasal bridge, micrognathia, carp mouth, hypertelorism, low set ears, severe congenital heart disease, anomalies of limbs and external genitalia. In comparison to the previously reported cases of 1 lq‐, the patient presented here had congenital anomalies not described before, including severe affected urogenital system, hypoplasia of the adrenal, accessory spleens and mild hydrocephaly.
The inheritance of constitutive and facultative skin colour
Authors: Banerjee Sarla
Published: July 2010

Observations on skin reflectance were made on 309 endogamous Indian families, for constitutive (medial upper arm) and facultative skin colour (forehead) to investigate which of the two colours is under a rigid control of genetic action. An assessment of data by coefficient of correlation “r” show that facultative colour is inherited more strictly than the constitutive colour.

Received 4 July, accepted 3 October 1983
Atypical gonadal dysgenesis: the role of Yq in determining phenotype and malignancy risk
Authors: Tyrkus M. , McCorquodale M. , Postellon D. , Franco‐Saenz R.
Published: July 2010

Two cases of atypical gonadal dysgenesis are described. Phenotypes are attributed to unique karyotypes derived from abnormal zygotic states modified by secondary cell line loss. A model is presented which proposes and defines a regulatory locus of Yq (Y‐HT) and comments are made regarding the risk of malignancy in such patients.
Preaxial polydactyly type 4: variability in a large kindred
Authors: Reynolds James F. , Sommer Annemarie , Kelly Thaddeus E.
Published: July 2010

A five generation family with type 4 preaxial polydactyly is reported. The 21 affected individuals demonstrated variability in expression without apparent sex influence and penetrance which was complete. The deformities were more severe in the feet than the hands. Anteroposterior flatness of the thumbs was the only manifestation of the trait in the hands of several affected family members.
Polymorphism at the Apoprotein‐E locus in relation to risk of coronary disease
Authors: Cumming Alastair M. , Robertson Forbes W.
Published: July 2010

The frequency of genotypes at the polymorphic locus which codes for Apoprotein‐E, an important constituent of very low density serum lipoprotein, has been determined in a random sample of persons between the ages of 45 and 60 years, born in the Grampian Region of North East Scotland. Three alleles, EII EIII and EIV occur with a frequency of respectively 0.08, 0.77 and 0.15. In a random sample of survivors of myocardial infarction, born in the same region, genotype EIVEIII occurs more and EIIIEII less frequently than expected. Also the mean age at first infarction is lower in men for genotype EIVEIII than for other genotypes. Commonly occurring genotypes at this locus apparently influence the risk of coronary disease. A prospective study is needed to show how the genetic effects are expressed.
Interstitial deletion of band q12 of chromosome 5
Authors: Dudin Gertrud , Alexander Denis , Talj Fayrouz , Deeb Mary , Musallam Salim , Kaloustian Vazken M. Der
Published: July 2010

A six‐months‐old girl is presented with psychomotor retardation and multiple congenital malformations. The karyotype done on peripheral blood lymphocytes and skin fibroblasts was found to be 46,XX del(5)(411q13). The parents are consanguineous. Their karyotypes were normal.

The genes for Arylsulphatase B and Hexosaminidase B are not located in band 5q12.
Genetic counseling for autosomal dominant diseases with a negative family history
Authors: Friedman J. M.
Published: July 2010

The first appearance of an autosomal dominant disease in a family is often attributed to new mutation, and the parents may be given a very low risk of recurrence for future offspring. This counseling is not appropriate if penetrance of the disease is incomplete and the reproductive fitness of affected individuals is close to normal. The risk of recurrence (PR) for an autosomal dominant disease in the sibling of an affected child, neither of whose parents is affected, may be estimated as:

PR= y(1‐y)/2(2‐y‐f)

where f is fitness of the carrier genotype regardless of phenotype, y is penetrance, and mutation‐selection equilibrium is assumed to exist. Recurrence risks have been calculated with this formula for various values of f and y. In cases in which penetrance is moderate and fitness is moderate or high, the risk of recurrence in siblings of the proband is often greater than 10%. When fitness is very high (f±0.9), the risk to siblings may be greater than 25%. These observations have important implications for genetic counseling and may also affect mutation rate calculations, demonstration of paternal age effects, and determination of inheritance patterns in genetically heterogeneous conditions.
Karsch‐Neugebauer syndrome: split foot/split hand and congenital nystagmus
Authors: Pilarski Robert T. , Pauli Richard M. , Bresnick George H. , Lebovitz Ruth M.
Published: July 2010

A family with four members with split foot/split hand malformations and congenital nystagmus is described. The clinical characteristics in this family correspond to those seen in two other families previously reported. Taken together, these three families suggest that a single, pleiotropic dominant gene is causal. Karsch‐Neugebauer syndrome is suggested as an appropriate eponymic designation for this disorder.
De novo t(4;5) (q3100; q2200) with del(5)(q1500q2200). Tentative delineation of a 5q monosomy syndrome and assignment of the critical segment
Authors: Rivera Horacio , Rolón Araceli , Sánchez‐Corona José , Cantú José María
Published: July 2010

An 8‐month‐old boy with multiple malformations and psychomotor retardation was found to have a de novo t(4;5)(q3100;q2200) with del(5)(ql500q2200). The phenotypical comparison with 10 similar monosomic cases from the literature led us to tentatively delineate a 5q monosomy syndrome and to postulate the band 5ql5 as the correspondent critical segment.
Disease risk estimates from marker association data: Application to individuals at risk for hemochromatosis
Authors: Lin Henry J. , Conte William J. , Rotter Jerome I.
Published: July 2010

The recessive hemochromatosis gene is both linked to the HLA region on chromosome 6 and nonrandomly associated with certain HLA alleles. The use of linked HLA markers to trace known hemochromatosis genes within a family is well known, but using the population associations to detect unsuspected disease genes has not been fully appreciated. Thus, while HLA typing has been utilized to detect asymptomatic affected siblings, it has not been applied to other relatives. We propose a method in which Bayes' rule is used to calculate the probability that designated HLA marker haplotypes, brought into the family by spouses, have attendant hemochromatosis genes. The A3, B14 and A3, B7 haplotypes are such high risk markers. When these haplotypes are inherited from the unaffected parent, the offspring of an individual with hemochromatosis is at marked increased risk for the disease. When A3 and B14 are absent from the HLA marker haplotype, however, the risk of having a hemochromatosis gene is less than that for the general population. This approach should be helpful in identifying family members at a higher risk for developing the disease and who may then undergo appropriate periodic screening.
Semiautomated chromosome analysis: A clinical test
Authors: Philip J. , Lundsteen C.
Published: July 2010

An interactive system for semiautomated chromosome analysis, consisting of a high‐speed image processor with light‐pen, TV monitor and key‐board interfaced to a microscope with motorized scanning stage and video‐camera and to a hard‐copy printer, has been clinically tested for twenty consecutive working days.

Metaphase search takes place over night. Identified metaphases are ranked automatically according to their suitability for analysis. Less than every second metaphase found cannot be either counted or analysed.

164 samples were analysed. Only one was not completed. Two numerical and two structural abnormalities were identified and clinical consequences taken.

Average time per completed analysis (10 counts, four karyotypes) were 37.5 min (28–84). Average time varied between technicians. In another test including 120 metaphases and 40 karyotypes average time for counting the chromosomes of a metaphase was 37 sec. (28–48), and average time for producing one karyotype, including a hard‐copy was 4 min 30 sec (3 min 43 sec‐5 min 54 sec). Number of manual interactions was 8 (2–17) and 36 (25–61), respectively.

Although improvements are possible, the system is able to at least double the output of four cytogenetic technicians.
Effect of balanced X/autosome translocations on sexual and physical development
Authors: Kleczkowska A. , Fryns J. P. , Vinken L. , Berghe H. van den
Published: July 2010

Four different balanced X/autosome translocations: 46,X,t(X;9)(pll;ql3); 46,X,t(X;I2) (pll;ql2); 46,X,t(X;15)(ql2;pll) and 46,X,t(X;19)(q26;pl2) are described in four female patients. The effect of X/autosome translocations on physical and sexual development of these women and their offspring is discussed.
A distinct variant of intermediate maple syrup urine disease
Authors: Gonzalez‐Rios Maria del Carmen , Chuang David T. , Cox Rody P. , Schmidt Kathleen , Knopf Karen , Packman Seymour
Published: July 2010

Branched chain α‐ketoacid dehydrogenase (BCKAD) deficiency, or maple syrup urine disease (MSUD), can be categorized as classical, intermediate, intermittent or thiamine responsive, based on generally concordant in vitro BCKAD activity and severity of phenotype. We present clinical and enzymatic data on a boy with intermediate maple syrup urine disease, and suggest that he represents a novel category of mutation. He presented at age 10 months in ketoacidotic coma, with a history of irritability, poor feeding and growth and developmental delay. Branched chain amino acid restriction effected normal growth and developmental parameters by age 42 months. In contrast to previous patients with intermediate MSUD, his fibroblasts and fibroblast extracts failed to decarboxylate [1‐14C]‐α‐ketoisovalerate (KIV). The defect is not in mitochondrial transport of substrate, but rather in the catalytic activity of the E1 component of the BCKAD. Disrupted cells of the proband exhibited negligible BCKAD activity over a wide range of keto acid substrate concentrations, irrespective of the presence of added thiamine pyrophosphate (TPP). These results differ from the sigmoidal kinetics observed using classical MSUD extracts, and the hyperbolic kinetics with control preparations under the same assay conditions. We propose that the structurally altered enzyme possesses reduced but not negligible activity in vivo, and exists as an unstable complex in vitro under assay conditions used, even in the presence of added TPP.
A complex rearrangement, including a deleted 8q, in a case of Langer‐Giedion syndrome
Authors: Schwartz S. , Beisel J. H. , Panny S. R. , Cohen M. M.
Published: July 2010

A 10‐month‐old infant with failure to thrive, delayed development, mild dysmorphia, cardiac anomalies, and cryptorchidism was referred for cytogenetic evaluation. Routine GTG‐banded analysis revealed a modal number of 46 chromosomes, which contained an obvious complex rearrangement involving chromosomes 1, 8, and 14. Parental chromosomes were normal. Following high resolution techniques, this de novo rearrangement demonstrated an intraband deletion and was designated as [46,XY,t(1;8;14)(1pter→1p13.1::14q12→14pter;1qter→ Ip13.1::8q24.13‐8qter; 14qter→14ql2::8p23.3→8q24.11:)].

Although deletions have been implicated as possibly responsible for abnormal phenotypes in patients with de novo“balanced rearrangements”, in most cases, they could not be demonstrated. The present case is only the second instance documenting a subtle intraband deletion in association with a complex translocation. Fourteen of the reported 18 patients with an 8q deletion (including this infant) have Langer‐Giedion syndrome, suggesting an etiologic relationship. However, the same deletion is not present in all cases.
Low density lipoprotein receptor activity in cultured skin fibroblasts from octa‐ and nonagenarians
Authors: Leren Trond P. , Maartmann‐Moe Kjell , Berg Kåre
Published: July 2010

Low density lipoprotein (LDL) receptor activity determined as association or degradation of 125I‐LDL at 37oC, was measured in cultured skin fibroblasts from 48 elderly, independent subjects (84–95 years old). Data concerning these subjects were compared with those from a reference group of 27 younger, healthy subjects (5–64 years old) and 23 heterozygotes for familial hypercholesterolemia (9–67 years old). The median (10th‐90th percentile) association and degradation value for the older subjects were 294 (172–535) ng 125I‐LDL/mg protein/6h and 191 (99–376) ng 125I‐LDL/mg protein/6h, respectively. These values did not differ significantly from the corresponding values in the normal subjects (296 (60–491) ng ,25I‐LDL/mg protein/6h and 171 (99–275) ng 125I‐LDL/mg protein/6h, respectively). Thus, maximal LDL receptor activity in fibroblasts from the older subjects seems to be comparable to that of younger, healthy controls. However, the elderly subjects had markedly higher values for total serum cholesterol and LDL cholesterol than the normal controls. There was a significant increase in LDL receptor activity with age in the normal controls. Such an increase was not found in heterozygotes for familial hypercholesterolemia.
Effect of folic acid treatment in the fragile X syndrome
Authors: Gustavson Karl‐Henrik , Dahlbom Kate , Flood Anders , Holmgren Gösta , Blomquist Hans K→son , Sanner Gunnar
Published: July 2010

The effect of folic acid intake on the frequency of fragile X positive cells and some behavioural characteristics were evaluated in 5 boys and 4 adult males with the fragile X syndrome. The expression of fragile X was nullified in 6 and decreased in 3 of the 9 patients. Behavioural and motor ability were considered to have improved in 4 of the 5 boys but not in the 4 adults with fragile X syndrome.
Prenatal diagnosis of glycogenosis type II (Pompe's disease) using chorionic villi biopsy
Authors: Besançon Anne‐Marie , Castelnau Laetitia , Nicolesco Henriette , Dumez Yves , Poenaru Livia
Published: July 2010

Glycogenosis type II (Pompe's disease) has been diagnosed using cultured amniotic cells for several years. In this paper, we present three prenatal diagnoses based on chorionic villi biopsy in three families at risk for Pompe's disease juvenile form: a normal fetus that was diagnosed and confirmed by enzymatic assay on amniotic cells; two affected fetuses that were diagnosed and confirmed on post‐abortion fetal tissues. In one case a residual acid a‐glucosidase activity was found; we concluded that the residual activity was due to maternal contamination. Prenatal diagnosis of Pompe's disease is therefore possible using chorionic villi biopsy.
Centromeric instability of chromosomes 1 and 16 with variable immune deficiency: a new syndrome
Authors: Howard P. J. , Lewis I. J. , Harris F. , Walker S.
Published: July 2010

We describe an extended study of a boy with combined immunodeficiency and centromeric fragility of chromosomes 1 and 16. This case, together with three previously reported cases with similar clinical, immunological and chromosomal features, appears to confirm a specific syndrome of immune deficiency associated with centromeric fragility of chromosomes 1, 9 and 16.
Gustatory lacrimation in association with the branchio‐oto‐renal syndrome
Authors: Preisch James W. , Bixler David , Ellis Forrest D.
Published: July 2010

Branchio‐oto‐renal (BOR) syndrome is a developmental complex presenting with various combinations of ear pits, branchial cleft cysts, deafness and renal anomalies, which is inherited as an autosomal dominant trait. This report describes a father and 2 children with BOR syndrome in which gustatory lacrimation (GL) was also present in 2 of them. GL is considered to be a rare, non‐hereditary type of anomalous, cranial nerve‐end organ innervation. Since lacrimal stenosis, which can clinically mimic GL, is also a feature of the BOR syndrome, future reports require lacrimal reflex testing and duct patency evaluation to define this variation in the BOR phenotype.
A folate sensitive heritable fragile site at 19p13
Authors: Tommerup Niels , Nielsen Johannes , Mikkelsen Margareta
Published: July 2010

A fragile site at 19pl3 was found in the mother of a newborn girl with Downs syndrome. The fragile site was expressed in medium containing low folate and by addition of FdU, whereas high folate, thymidine and thymidine‐analogues inhibited the expression. This fragile site may prove valuable for linkage studies on chromosome 19.
Two cases of interstitial deletion of the long arm of chromosome 1: del(1)(q21 → q25) and del(1)(q41 → q43)
Authors: Beemer F. A. , Pater J. M. Klep‐de , Sepers G. J. , Janssen B.
Published: July 2010

Two unrelated children, one with a proximal interstitial deletion 1 (l(pter → q21: :q25 → qter)) and the other one with a distal interstitial deletion 1 (l(pter → q41: :q43 → qter)) are presented. The clinical features of the patient with a proximal deletion (q21‐q25) correspond with those of eight earlier reported cases with a deletion lq21/22/23 → q25. The second patient with the distal interstitial deletion (q41‐q43) is the first case published as far as we know. The clinical characteristics of the latter patient are compared with those of six cases with a terminal deletion 1q with at least one common band missing (1q42).
Frequency of fragile X chromosome in normal females
Authors: Abuelo Dunne , Castree Katherine , Pueschel Siegfried , Padre‐Mendoza Teresita , Zolnierz Kathy
Published: July 2010

Because of the ambiguities in diagnosing carriers of the fragile X syndrome, we studied thirty‐six normal females to determine whether the fragile site at Xq27 can be seen in noncarrier females and at what frequency. A fragile site at Xq27 was identified in one out of thirty‐six females, occurring at a frequency of 0.5% in her peripheral lymphocytes. We conclude that the fragile Xq27 site occurs only rarely in noncarrier females and that each laboratory should determine its own baseline frequencies of fragile X in order to most accurately distinguish between normal and carrier women.
The cerebro‐costo‐mandibular syndrome: third report of familial occurrence
Authors: Hennekam R. C. M. , Beemer F. A. , Huijbers W. A. R. , Hustinx P. A. , Sprang F. J. van
Published: July 2010

Two male sibs with cerebro‐costo‐mandibular syndrome and spina bifida are described. The parents are physically and radiologically normal. A short review of the pertinent literature is given with special emphasis on the mode of inheritance.
Partial trisomy 5q and partial monosomy 5q within the same family
Authors: Lazjuk G. I. , Lurie I. W. , Kirillova I. A. , Zaletajev D. V. , Gurevich D. B. , Shved I. A. , Ostrovskaya T. I.
Published: July 2010

The observation of partial trisomy for 5q31‐5qter and partial monosomy for the same segment in two offspring within the same family is presented. Their normal mother was a balanced carrier of a reciprocal translocation 46, XX, t(5;10) (q31.3;q26). The trisomic female had craniofacial dysplasia, a short neck, clinodactyly of the 5th fingers, a small umbilical hernia, arhinencephalia, cerebellar hypoplasia, atrial septal defect, an accessory spleen, bifid uterus and vagina, hypoplastic ovaries. Potter syndrome with cystic dysplasia of the left kidney and agenesis of the right, urethral atresia, uterus unicornus with utero‐urethral fistula, true hermaphroditism with two ovaries and one testicle were found in her stillborn sister. Analysis of the manifestations of monosomy 5q and trisomy 5q in the same family supports a well known fact that the effects of deletions are more pronounced than those of duplications for the same segments.
Duchenne‐like muscular dystrophy in two sisters with normal karyotypes: evidence for autosomal recessive inheritance
Authors: Somer Hannu , Voutilainen Arja , Knuutila Sakari , Kaitila Ilkka , Rapola Juhani , Leinonen Hannu
Published: July 2010

Two sisters, products of a consanguineous marriage (with a total of 12 children) showed muscle weakness at ages 7 and 6 yrs, respectively. The symptoms progressed rapidly and the patients were confined to wheelchairs at ages of 12 and 11 yrs, respectively. They had mild facial weakness and pseudohypertrophy of the calves, but neither cardiomyopathy nor mental retardation. Serum CK activities exceeded upper normal limit by 70 to 85‐fold. Muscle biopsies were compatible with muscular dystrophy. Both girls had a normal karyotype. The healthy mother had mild CK elevations in two out of three occasions, but the muscle biopsy was normal. Three out of the six unaffected sibs had mild CK elevations. The findings support the concept of severe progressive muscular dystrophy with autosomal recessive inheritance. The condition is clinically indistinguishable from Duchenne muscular dystrophy.
Cornelia de Lange syndrome in a mother and daughter
Authors: Leavitt Anne , Dinno Nuhad , Davis Catherine
Published: July 2010

The Cornelia de Lange syndrome was first described in 1933. Since then, more than 250 cases have been described in the medical literature. It has generally been considered to be sporadic, but several authors have raised the possibility of genetic factors. We present a mother and child affected with Cornelia de Lange syndrome and raise the possibility of autosomal dominant inheritance.
An unusual variant chromosome 9 with an extra C‐negative, G‐dark segment in the short arm
Authors: Spedicato F. S. , Comite A. Di , Tohidast‐Akrad M.
Published: July 2010

An unusual variant chromosome 9 is described in a mother and a daughter: an extra G‐, C‐negative and G‐11 negative chromosomal segment is present in the short arm in the absence of apparent phenotypic effects. This extra material is also Ag‐As negative and exhibits a fluorescence similar in intensity to that of band 9q21 when stained by QFQ and DAPI/AMD, and to that of band 9p13 in RBA‐banded preparations; it is slightly less fluorescent when R‐banded by chromomycin A3.

The possibility of an association with an increased risk of spontaneous abortion is presented.
Use of HLA marker associations and HLA haplotype linkage to estimate disease risks in families with gluten‐sensitive enteropathy
Authors: Lin Henry J. , Rotter Jerome I. , Conte William J.
Published: July 2010

Based on a two‐locus, double recessive model, we derive formulas for the risks that relatives of individuals with gluten‐sensitive enteropathy (GSE) will also develop the disease. The calculations take advantage of: (i) the linkage between the HLA locus and one of the two proposed GSE loci, and (ii) the preferential association of the HLA‐DR3 and DR7 alleles with the GSE disease allele that occupies the HLA‐linked locus. We use Bayes' rule to quantitate the strength of the association between the GSE disease allele and the HLA marker allele. This method predicts that siblings of the proband have an overall 10% risk for GSE, which is consistent with observed family data. This predicted risk rises to 30% when siblings are HLA‐identical to the proband (also consistent with observed data) or when the sibling has the DR3 allele in the HLA haplotypes not shared with the proband. In those populations where DR7 also is associated with GSE, siblings of probands have a 10% predicted risk for GSE when only one HLA haplotype is shared with the proband and DR7 is included in the unshared haplotype. Other DR alleles are associated with much lower disease risks. By separating individuals into high and low risk groups, HLA typing identifies those individuals who would benefit from further diagnostic procedures. This general strategy should be applicable to other multilocus, marker‐associated diseases.
Variable clinical presentation of cutis laxa
Authors: Fitzsimmons J. S. , Fitzsimmons E. M. , Guibert P. R. , Zaldua V. , Dodd K. L.
Published: July 2010

We present 2 families with 4 individuals suffering from congenital cutis laxa. Family A has a single affected male child with developmental delay and ligamentous laxity, making this only the second male of the total 15 patients so far reported with this particular syndrome. Family B has 3 affected males, 2 of whom have significant involvement of other systems. Only one of the 4 affected children had very obvious loose skin folds and dependency on this clinical feature alone could result in under‐diagnosis of this disease. The clinical features and family pedigree information suggests recessive inheritance in Family B but the mode of inheritance in Family A is inconclusive.
Lethal and non‐lethal diastrophic dysplasia A study of 14 Swedish cases
Authors: Gustavson Karl‐Henrik , Holmgren Gösta , Jagell Sten , Jorulf Håkan
Published: July 2010

A clinical study was performed on 14 patients with diastrophic dysplasia (DD), including three pairs of sibs. Six of these patients, including two pairs of sibs, died shortly after birth of respiratory and circulatory insufficiency. We consider these six patients to represent a special lethal variant of DD. In all infants with the lethal variant of DD the birth weight was lower than in those with the non‐lethal variant. There were also roentgenological differences between these two groups. Overlapping in joints and dislocation of the cervical spine were seen in all the lethal cases. In addition, four of the six patients with lethal DD cases had a congenital heart defect, and none in the non‐lethal group.
Umbilical dysmorphology. The importance of contemplating the Belly Button
Authors: Friedman J. M.
Published: July 2010

Characteristic abnormalities of the umbilicus have been noted in children with Aarskog syndrome, Reiger syndrome, and Robinow syndrome. These observations indicate that specific umbilical configurations may be characteristic features of some malformation syndromes. Evaluation of the umbilicus for minor anomalies should be included in the examination of a dysmorphic child.
Pseudoisodicentric bisatellited extra marker chromosome (tetrasomy 22pter→q11, trisomy Yqh), derived from a maternal Y/22 translocation. Association between this tetrasomy and “Cat eye” phenotypical features
Authors: Gabarrón J. , Glover G. , Jimenez A. , Lamata E.
Published: July 2010

A patient with multiple congenital anomalies suggestive of the “Cat eye” syndrome was found to have an extra marker bisatellited chromosome 22 derived from a maternal Y/22 translocation, identified by multiple banding patterns in cultures treated with DA. The proband's karyotype is 47, XX, + psu idic(22)(Yqter→Yq12::22p13→22q11::22q11→22p13::Yq12→Yqter), t(22;Y)(p13;q12)mat., being tetrasomic for 22pter→q11, and trisomic for Yqh. Similarity between his clinical features and reported “Cat eye” cases, confirms that this region is responsible for the phenotypical expression of the syndrome.
The Aase‐Smith syndrome
Authors: Patton M. A. , Sharma A. , Winter R. M.
Published: July 2010

A distinct syndrome with hand abnormalities, joint contractures, cleft palate and a Dandy‐Walker malformation was reported by Aase & Smith (1968). This paper reports a second example of this syndrome in a mother and daughter.
Åland eye disease: no albino misrouting
Authors: Dorp D. B. van , Eriksson A. W. , Delleman J. W. , Vliet A. G. M. van , Collewijn H. , Balen A. Th. M. van , Forsius H. R.
Published: July 2010

Electrophysiological studies showed that a patient with Åland eye disease had no misrouting of the optic pathways which is always found in all forms of albinism as a consequence of the retinogeniculate anomaly. Also the spontaneous and optokinetic nystagmus did not resemble that of the large majority of human albinos. The marked asymmetry found in this patient seems to be typical for humans with a defective development of foveal binocular vision. These findings are in agreement with clinical, nystagmographic and EM findings that Åland eye disease is distinct from the Nettleship‐Falls type of X–linked ocular albinism. Furthermore, Åland eye disease is different from X‐chromosomal congenital stationary night blindness with myopia by the fact that the scotopic functions are only moderately affected and there is no restriction of the peripheral photopic visual fields. In addition, there is latent nystagmus of extraocular type that appears also in female carriers. There is no ophthalmoplegia, there is a progression of the myopia and the dyschromatopsia is of secondary type.
Ring chromosome 21 in a phenotypically normal but infertile man
Authors: Huret J. L. , Leonard C. , Kanoui V.
Published: July 2010

Analysis of the karyotype of an azoospermic 27‐year‐old man, without any dysmorphism, showed the presence of a ring chromosome 21.
Prenatal diagnosis of cystic fibrosis by trehalase enzyme assay in amniotic fluid
Authors: Szabó M. , Teichmann F. , Szeifert G. T. , Tóth M. , Tóth Z. , Török O. , Papp Z.
Published: July 2010

Amniocentesis and amniotic fluid trehalase enzyme assay were offered to 14 pregnant women at a 1 in 4 risk for a child with cystic fibrosis. Twelve of these pregnancies were screened at the 18th week of gestation; ten proceeded to term, seven following the finding of a normal trehalase activity and three despite the low enzyme level in amniotic fluid. In all ten cases prenatal diagnosis proved to be correct. In two cases with low enzyme activity parents opted for termination at the 19th week, and with PAS‐Alcian Blue staining some slight histochemical lesions characteristic of cystic fibrosis were seen in the exocrine glands, including the pancreas and intestinal mucosa, of both fetuses. The total protein content in the meconium of these fetuses was significantly higher than in the controls.

Results suggest that trehalase assay in the amniotic fluid is a potential prenatal test for cystic fibrosis and it appears that in fetuses with cystic fibrosis some histochemical and biochemical abnormalities can be observed as early as the 19th week of gestation. The role of ultrasound examination as an additional procedure for the prenatal diagnosis of cystic fibrosis is also discussed.
Genetic linkage analysis of epidermolysis bullosa dystrophia, Cockayne‐Touraine type
Authors: Mulley J. C. , Turner T. , Nicholls C. , Propert D. , Sutherland G. R.
Published: July 2010

Genetic linkage relationships between 27 informative marker loci and the locus for epidermolysis bullosa dystrophica, Cockayne‐Touraine type (EBD‐CT), were examined in a single large kindred. Linkage could not be demonstrated to any of the marker loci, further adding to the exclusion map for EBD‐CT. The dominant forms of EBD so far delineated by clinical criteria and electron microscopy remain genetically undefined in terms of loci and allelism. Further investigation will be undertaken using restriction fragment length polymorphisms mapped to regions outside the existing exclusion map.
Segregation analysis of a translocation (16;21)(p11;q22) in a large pedigree
Authors: Geraedts J. P. M. , Leschot N. J. , Veenema H.
Published: July 2010

A large family with an inherited reciprocal translocation (16;21) is described. An unbalanced karyotype due to adjacent‐1 segregation was documented in 6 cases, whereas 25 children dying within the first year of life and 4 individuals dying at later ages probably had the same abnormality. Therefore minimal and maximal risk estimates were calculated to be 6.0% and 26.5% for female, respectively, 4.8% and 33.3% for male translocation heterozygotes. Among the karyotyped phenotypically normal offspring of male as well as female carriers the ratio of normal children to balanced carriers was not different from 1:1.
The facio‐audio‐symphalangism syndrome: report of a case and review of the literature
Authors: Hurvitz S. A. , Goodman R. M. , Hertz M. , Katznelson M. Bat‐Miriam , Sack Y.
Published: July 2010

A detailed account is given of a 5‐year‐old girl with the facio‐audio‐symphalangism syndrome. This genetic disorder has been known previously by other names, including the WL syndrome. The reasons for suggesting this new descriptive term are given, along with a review of the literature.
The Groll‐Hirschowitz syndrome
Authors: Potasman I. , Stermer E. , Levy N. , Dar H. , Bassan H.
Published: July 2010

Two sisters showed a similar disorder with cachexia, sensory deafness, and upper gastrointestinal abnormalities. The family pedigree suggests autosomal recessive inheritance of the disorder. Demyelinization demonstrated by a peripheral nerve biopsy may explain the basis for the manifestations.

Only one family with this unique syndrome has been reported in the literature.

The term “The Groll‐Hirschowitz Syndrome” has been suggested, named after the two physicians who first described this condition.
The FG syndrome: 7 new cases
Authors: Thompson E. M. , Baraitser M. , Lindenbaum R. H. , Zaid Z. H. , Kroll J. S.
Published: July 2010

The X‐linked FG syndrome is characterised by mental retardation, congenital hypotonia and constipation (which may both be severe), structural anal anomalies and relative macrocephaly in some, and an unusual and characteristic facial appearance. We describe 7 males from 4 families. One had anal stenosis. Two of the mothers and one sister show probable carrier manifestations.

The features of the FG syndrome are individually non‐specific. We emphasize that the characteristic combination of features is needed to avoid overdiagnosis.
Familial syndrome with some features of the Langer‐Giedion syndrome, and paracentric inversion of chromosome 8, inv 8 (q11.23<q21.1)
Authors: Shabta F. , Sandowski U. , Nissimov R. , Klar D. , Halbrecht I.
Published: July 2010

A family is reported with an autosomal dominant inherited syndrome presenting some of the typical features of the tricho‐rhino‐phalangeal syndrome type II (TRP II) or Langer‐Giedion syndrome. The critical region for the expression of the syndrome seems to be at band 8q24.1.

In the affected members of the family reported here, anomaly of chromosome 8 was noted, involving however the proximal part of the 8 long arm, which was interpreted as a paracentric inversion. Whether the anomaly is causally or only casually related to the syndrome is a matter of discussion.