bluuebunny/crossref_metadata_2025_split huggingface dataset:
Absence of familial association between dementia of Alzheimer type and down syndrome
Authors: Berr C. , Borghi E. , Rethoré M. O. , Lejeune J. , Alperovitch A. 
Published: June 2005

AbstractThe aim of this study was to test whether there is an excess of dementia of Alzheimer type (DAT) cases in Down syndrome (DS) relatives. We conducted a case‐control study in families of DS children with classical trisomy 21. A control group was constituted of families of children referred to the same hospital for benign diseases.Families of 188 DS children and 185 controls were recruited. We obtained vital statistics on 1,850 (response rate 82%) grandparents and great‐grandparents in the DS group and 1,525 (69%) in the control group. Rates of possible severe dementia were calculated on ancestors over age 60 years with available data on mental function, 1,336 in the DS group and 1,113 in the control group. Rates of possible severe dementia were similar in the two groups: 5.6% (78 cases) in DS and 6.2% (66 cases) in control. Dementia with insidious onset suggestive of DAT was observed in 2% (28 cases) of DS ancestors and 2.6% (28 cases) of control ancestors.Our results argue against an excess of dementia cases with insidious onset suggestive of DAT in families of children with classical trisomy 21.
Familial Mediterranean fever in Armenians: Autosomal recessive inheritance with high gene frequency
Authors: Rogers David B. , Shohat Mordechai , Petersen Gloria M. , Bickal Joan , Congleton Jane , Schwabe Arthur D. , Rotter Jerome I. 
Published: June 2005

AbstractFamilial Mediterranean fever (FMF) is a recurrent episodic inflammatory disorder of unknown pathogenesis that occurs with high frequency in non‐Ashkenazi Jews and Armenians. However, there are some differences in the clinical manifestations of FMF in these ethnic groups. FMF has been reported to be an autosomal recessive disease in non‐Ashkenazi Jews, with a male/female ratio of 1.7, indicating reduced penetrance in females. However, the inheritance is less clear for Armenians. To resolve this problem, we studied prospectively families of 64 Armenian index cases randomly ascertained at the UCLA FMF clinic. Fifty‐three families containing 176 sibs in addition to the probands were analyzed by genetic segregation analysis (exclusions included: six single‐child families, four families in which one of the parents was also affected, and a family with incomplete information). Upper and lower bounds of the segregation ratio were estimated, and ranged from.10 ± .03 to.18 ± .05 when only definitely affected sibs were classified as affected;.17 ± .04 to.27 ± .05 when considering “possibly affected” sibs as affected; and.19 ± .04 to.30 ± .05 when incomplete penetrance in females was corrected. A value of.25 is the expected segregation ratio for autosomal recessive inheritance, and our data are consistent with this mode of inheritance. We can reject autosomal dominant inheritance, where the expected segregation ratio is.5. Using extended pedigree data, we calculated an FMF gene frequency of 0.073 and a carrier rate of 1/7, which is about four times the frequency in non‐Ashkenazi Jews. The parent‐to‐offspring transmission of FMF reported in Armenians can be explained by its high gene frequency in this ethnic group. We conclude that, despite the clinical differences, FMF is an autosomal recessive disease in all ethnic groups studied to date.
Autism is not associated with the Fragile X syndrome
Authors: Einfeld Stewart , Molony Helen , Hall Wayne 
Published: June 2005

AbstractWe provided a controlled test of the hypothesis that individuals with the Martin‐Bell or Fragile X [fra(x)] syndrome are more autistic than mentally retarded control individuals. A sample of fra(x) individuals was obtained from the register of a clinical genetics unit and compared with mentally retarded control individuals selected from an assessment centre who were individually matched for age, sex, and IQ. A comparison of 45 pairs of fra(x) cases and control individuals on the DSM‐III (R) criteria for autism and two standardized “instruments” for the assessment of autism (ABC and ADC) failed to find a higher prevalence of autism among fra(x) individuals. There was no statistically significant difference between fra(x) individuals and control individuals, and the mean differences on both the ABC and ADC scales were in the direction contrary to the hypothesis. An analysis of the study's statistical power suggested that it is unlikely the investigation failed to detect a large to medium difference between fra(x) individuals and control individuals in autistic behaviour. Subsidiary analyses of case‐control differences showed that two autistic‐like behaviours occurred at a higher rate among fra(x) individuals than other mentally retarded children, namely, gaze avoidance and hand flapping. These abnormalities may have misled clinicians into thinking that autism and fra(x) are associated.
“New” ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet
Authors: Wilson William G. , Greer Kenneth E. , Martof Andrew B. , McIlhenny Joan , Hatter Dennis L. 
Published: June 2005

AbstractWe describe a 2‐year‐old girl with virtual absence of body and scalp hair, rounded nails, thin dental enamel, preaxial polydactyly of feet, and unusual facial appearance. This combination of findings is not similar to that of any of the previously described ectodermal dysplasia syndromes and may represent a new disorder.
Translocation t(5;11)(q13.1;p13) associated with familial isolated aniridia
Authors: Pettenati Mark J. , Weaver R. Grey , Burton Barbara K. 
Published: June 2005

AbstractA father and daughter with isolated aniridia were observed to have an apparently balanced, reciprocal translocation involving chromosomes 5 and 11 [t(5;11)(q13.1;p13)]. No other clinical characteristics often associated with the deletion of 11p13 were observed in this family. This finding, in association with 3 other instances of single breaks at 11p13 and aniridia, supports the assignment of AN2 to 11p13.
Three sibs with achalasia and alacrimia: A separate entity different from triple‐A syndrome
Authors: Haverkamp F. , Zerres K. , Rosskamp R. 
Published: June 2005

AbstractWe report on two brothers and one sister with achalasia and alacrimia born to consanguineous unaffected parents. The combination of achalasia and alacrimia may represent an entity different from the triple‐A syndrome in showing normal adrenal function.
Ambiguous genitalia associated with skeletal abnormalities, cutis laxa, craniostenosis, psychomotor retardation, and facial abnormalities (SCARF syndrome)
Authors: Koppe Roswitha , Kaplan Paige , Hunter Alasdair , MacMurray Brock 
Published: June 2005

AbstractWe describe 2 male maternal first cousins, 7 years and 7 months old, with a previously unreported pattern of malformations including lax skin, joint hyperextensibility, umbilical and inguinal herniae, craniosynostosis, pectus carinatum, several abnormally shaped vertebrae, enamel hypoplasia and hypocalcification of the teeth, facial abnormalities and wide webbed neck, ambiguous genitalia, multiple nodular liver tumors, and mild psychomotor retardation. The occurrence of 2 male children related through their mothers suggests the possibility of X‐linked recessive inheritance. It is proposed to call this disorder the SCARF syndrome (skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, retardation, facial abnormalities).
Psychological aspects of genetic counseling: VI. A critical review of the literature dealing with education and reproduction
Authors: Kessler Seymour 
Published: June 2005

AbstractThe post‐1979 literature dealing with the educational and reproductive outcome and process of genetic counseling is reviewed. Despite methodological difficulties, recent publications strongly suggest that genetic counseling is successful in educating counselees about diagnostic and risk information. In general, investigators suggest that there is room for improvement and the factors leading to imperfect recall of information need to be elucidated. Process studies suggest that the educational priorities of counselors and counselees may not always be consistent. The contribution of these inconsistencies to outcome measures needs further study. Also, it appears that differing counseling approaches may be equally effective in achieving educational goals. Studies on the reproductive outcome of genetic counseling show no strong impact of counseling; there appears to be a net increase of desire for more children following counseling. Precounseling reproductive intentions, rather than counseling, were found to be a major factor in determining postcounseling outcome. Process studies suggest that although many counselees say that they were influenced by genetic counseling, it is uncertain what they mean, since for many counselees, reproductive decisions seem to have been made prior to counseling.
Apparent Smith‐Lemli‐Opitz syndrome and Miller‐Dieker syndrome in a family with segregating translocation t(7;17)(q34;p13.1)
Authors: Berry Rebecca , Wilson Harry , Robinson Jeanne , Sandlin Constance , Tyson Wes , Campbell John , Porreco Richard , Manchester David 
Published: June 2005

AbstractWe describe a family in which one male infant presented with Miller‐Dieker syndrome and four male relatives had a phenotype similar to the Smith‐Lemli‐Opitz (SLO) syndrome. High resolution cytogenetic analysis on the child with Miller‐Dieker syndrome showed 46, XY, −17, + der17t(7;17)(q34:p13.1). Paternal chromosomes showed a balanced translocation: 46, XY,t(7;17)(q34:p13.1). The paternal grandmother had a history of multiple miscarriages, and a paternal uncle had two sons who died neonatally. Chromosomes on these children and their father had originally been reported as normal. There was also a paternal cousin to the father of the propositus who had had two sons with similar clinical findings. A diagnosis of SLO syndrome was considered. Image enhancement techniques on previous suboptimal preparations on these four children documented the subtle unbalanced translocation 46, XY, − 7, + der7t(7;17)(q34:p13.1). Subsequent high resolution analysis on one of these four children who was still living confirmed this chromosome constitution. It is postulated that these apparent SLO cases may represent a contiguous gene syndrome in which SLO or a separate entity closely mimicking the syndrome in included.
Apparent Fryns syndrome in a boy with a tandem duplication of 1q24‐31.2
Authors: Clark Robin Dawn , Fenner‐Gonzales Melissa 
Published: June 2005

AbstractWe report on a newborn boy with manifestations of Fryns syndrome who also had a mosaic tandem duplication of chromosome 1q24‐31.2. The child had a diaphragmatic hernia, cleft palate, hypoplastic and absent digits, micrognathia, long philtrum, thin upper lip, and anteverted nose. The baby died at age 5 hours. An autopsy demonstrated absent right middle lobe of the lung, bilateral renal cysts, hypoplastic renal arteries, urethral stricture, hydronephrosis, and aortic coarctation. The brain was abnormal with absent olfactory tracts and cerebral and cerebellar heterotopias.This is the first report of a chromosome anomaly in a child with Fryns phenotype. It suggests that the gene for Fryns syndrome may be located in the region 1q24‐31.2.
Choroideremia and hypopituitarism: An association
Authors: Menon Ram K. , Ball William S. , Sperling Mark A. 
Published: June 2005

AbstractChoroideremia is a rare X‐linked, progressive, degenerative disease of the retina and choroid. We describe 2 patients, one a female, with choroideremia documented to have hypopituitarism and neurological abnormalities. We hypothesize that this previously undescribed association results from a degenerative process involving tissues of neural origin, or from contiguous submicroscopic gene deletions in the X chromosome region that define choroideremia and possibly hypopituitarism.
Prenatal detection of a gene for hereditary amyloidosis
Authors: Nichols William C. , Padilla Lillie‐Mae , Benson Merrill D. 
Published: June 2005

AbstractAutosomal dominant amyloidosis of the Indiana/Swiss type (familial amyloidotic polyneuropathy type II) is a late‐onset disorder characterized by carpal tunnel syndrome, peripheral neuropathy, vitreous opacities, and cardiomyopathy. The genetic basis of the disease is a variant of plasma prealbumin (transthyretin) which has a serine for isoleucine substitution at amino acid 84 of the 127 residue prealbumin molecule. Using the polymerase chain reaction (PCR), we amplified exon 3 of the prealbumin gene in DNA extracted from amniocytes of a fetus at‐risk of carrying the serine‐84 prealbumin gene. By allele‐specific oligonucleotide analysis as well as restriction enzyme analysis of the amplification products it was determined that the fetus was a carrier of the serine‐84 variant gene. This finding was confirmed at birth by Southern blot analysis using DNA obtained from cord blood. This is the first report of the prenatal detection of a gene for hereditary amyloidosis.
New type of autosomal recessive short‐limb dwarfism with absent fibulae, exceptionally short digits, and normal intelligence
Authors: Kohn Gertrude , Veder Max , Schoenfeld Alex , El Shawwa Raghda 
Published: June 2005

AbstractShort‐limb dwarfism is of heterogeneous origin and has various clinical manifestations. This communication describes a previously apparently unreported type of short‐limb dwarfism in 3 affected sibs. Characteristics of this syndrome are bilateral absence of fibulae and severe abnormalities of all digits.
Macrocephaly, multiple lipomas, and hemangiomata (Bannayan‐Zonana syndrome): Genetic heterogeneity or autosomal dominant locus with at least two different allelic forms?
Authors: Moretti‐Ferreira Danilo , Koiffmann Célia P. , Souza Deise H. , Diament Aron J. , Wajntal Anita 
Published: June 2005

AbstractWe describe a boy with mild manifestations of the Bannayan‐Zonana syndrome (BZS): large scaphocephalic head with marked frontal bossing, hypertrophy on the right side of the body, large and irregular café‐au‐lait spots, and cutaneous telangiectasia on large parts of the body and a cavernous hemangioma on the internal side of the left leg; soft cutaneous masses were present in the left axilla and inner part of the left arm; hypotonia and mild neurologic dysfunction were also present. BZS is reported as an autosomal dominant condition with variable expressivity; analysis of our data and those reported in the literature suggest that the interfamilial variability observed might represent different allelic mutations, or genetic heterogeneity.
Familial hyperinsulinism with nesidioblastosis of the pancreas: Further evidence for autosomal recessive inheritance
Authors: Moreno Luis A. , Turck Dominique , Gottrand Frederic , Fabre Monique , Manouvrier‐Hanu Sylvie , Farriaux Jean‐Pierre 
Published: June 2005

AbstractWe report on a brother and sister with hyperinsulinism and nesidioblastosis of the pancreas. In addition, one brother and one sister who died in the neonatal period were probably affected. The parents of these children were healthy and consanguineous. We think that this is strongly suggestive of autosomal recessive inheritance. Seven other reports of presumed autosomal recessive hyperinsulinism are reviewed. To our knowledge, we report the first case in sibs whose parents were consanguineous. We think that early recognition of the condition is of obvious importance not only for therapy, but also for purposes of genetic counseling.
Familial 5q11.2→q13.3 segmental duplication cosegregating with multiple anomalies, including schizophrenia
Authors: McGillivray Barbara C. , Bassett Anne S. , Langlois Sylvie , Pantzar Tapio , Wood Stephen 
Published: June 2005

AbstractWe report on 2 relatives with a segmental duplication of 5q11.2→13.3. The phenotype is surprisingly limited for the degree of chromosome imbalance, the propositus presenting with schizophrenia. Using RFLP markers, we have shown that the gene for HEXB lies within the duplicated region. We suggest this region as a candidate region for the location of a single major gene which predisposes to schizophrenia and which may be assessed by linkage analysis.
Autosomal recessive Robinow syndrome
Authors: Teebi Ahmad S. 
Published: June 2005

AbstractTwo brothers of normal first‐cousin parents were found to have Robinow syndrome. Their paternal uncle also married a first cousin and had 3 similarly affected children (2 boys, 1 girl). The 2 affected brothers had short stature, mesomelic and acromelic brachymelia, characteristic face with hypertelorism, wide palpebral fissures, midface hypoplasia and large mouth, and hypogenitalism. Parental consanguinity and affected individuals in 2 sibships of common ancestry strongly suggest autosomal recessive inheritance. Similar cases from the literature are briefly reviewed.
Clinical pattern and the genetics of the fetal iodine deficiency disorder (endemic cretinism): Results of a field study in Highland Ecuador
Authors: Held Karsten R. , Cruz Marcelo E. , Moncayo Fausto 
Published: June 2005

AbstractThe clinical manifestations of various degrees of mental retardation, spastic diplegia, and deaf mutism are known as the neurologic type of endemic cretinism (EC), occurring in countries with high goiter endemicity. Maternal iodine deficiency has been established as the major cause in EC, whereas a genetic predisposition has not been well‐documented. Genetic data on 70 families with EC from Highland Ecuador are reported. A segregation analysis of 49 fully classified families yielded an estimate of P=0.245 (var [P]=0.00167). Half‐sibs were all unaffected and no significant birth order effect was observed among 101 probands. The data indicate an autosomal recessive predisposition as a major etiological factor. Because the neurologic type of EC represents a defined section of the spectrum of iodine deficiency disorders (IDD), the term fetal iodine deficiency disorder (FIDD) rather than cretinism is suggested. The clinical findings in 70 patients were used to delineate the minimal diagnostic criteria of FIDD.
Waardenburg syndrome and Hirschsprung disease: Evidence for pleiotropic effects of a single dominant gene
Authors: Badner Judith A. , Chakravarti Aravinda 
Published: June 2005

AbstractSegregation and linkage analysis was performed on published data on 5 families segregating for Waardenburg syndrome (WS) and Hirschsprung disease (HRSD). Two of these families demonstrated parental consanguinity. On the basis of these families, autosomal recessive inheritance of the combination WS‐HRSD has been postulated. However, a single dominant gene with pleiotropic effects leading to WS and HRSD, with a more severe phenotype in homozygotes, is more plausible. A model of gene action incorporating stochastic effects is compatible with these observations.
Mouse major histocompatibility complex (H‐2) and fetal lung development: Implications for human pulmonary maturation
Authors: Hu Ching‐Chum , Jaskoll Tina F. , Minkin Cedric , Melnick Michael 
Published: June 2005

AbstractUsing C57/10Sn (B10, H‐2b) and B10.A/SgSn (B10.A, H‐2a) congenic mice, we measured 1) the level of endogenous pulmonary cor‐ticosterone during mouse development;2) the degree of lung morphological maturation on gestation day 17, with or without corticosteroid treatment; and 3) the maternal influence on normal lung development and fetal response to corticosteroids. The results of our study indicate that there was a progressive increase in the level of endogenous hormone with time in fetal B10 (H‐2b) and B10.A (H‐2a) mice; throughout mid‐ to late gestation, the detectable amount of hormone was almost identical in lungs of both strains. Evaluating the degree of lung maturation by morphometry, B10.A mouse lungs were found to be less mature than B10 mouse lungs. Following corticosteroid treatment on day 12 of gestation, H‐2a lungs were equal to or more mature than H‐2b lungs. We also compared heterozygous mouse lungs from reciprocal crosses (B10. B10.A, b/a and B10.A.B10, a/b). Mice with a maternally derived H‐2a haplotype had less mature lungs than those with a maternally derived H‐2b haplotype, suggesting a maternal effect. When exogenous hormone was administered, all heterozygous mouse lungs increased in maturity regardless of the origin of the H‐2a haplotype. The treated a/b or b/a lungs were more mature than homozygous b/b and less mature than homozygous a/a lungs. We conclude that progressive lung maturation is associated with a gene (s) at or near the H‐2 complex, as is the ability to respond to corticosteroids.
Geleophysic dysplasia
Authors: Wraith James E. , Bankier Agnes , Chow C. W. , Danks David M. , Sardharwalla Imdad B. 
Published: June 2005

AbstractWe describe 2 children with geleophasic dysplasia. Prominent cardiac disease in one of the patients caused death at an early age. The history of consanguinity in one of the families supports autosomal recessive mode of inheritance. Histological and ultrastructural changes suggest that a disturbance in the relations between cell membrane and extracellular matrix may be involved in the pathogenesis.
Direct chromosome preparation and culture using chorionic villi: An evaluation of the two techniques
Authors: Simoni Giuseppe , Terzoli Gianluigi , Rossella Franca 
Published: June 2005

AbstractWe present a comparison between direct chromosome preparation and cell culture for first trimester fetal chromosome study using chorionic villi. The 2 techniques have advantages and disadvantages and are demonstrated to be appropriate for routine diagnostic work.The combined use of both methods may optimize the quality of the chromosome study and minimize the possibility of false‐positive and false‐negative findings.
Transcobalamin II deficiency presenting with methylmalonic aciduria and homocystinuria and abnormal absorption of cobalamin
Authors: Barshop Bruce A. , Wolff Jon , Nyhan William L. , Yu Alice , Prodanos Christina , Jones Gilbert , Sweetman Lawrence , Leslie Jack , Holm Jan , Green Ralph , Jacobsen Donald W. , Cooper Bernard A. , Rosenblatt David 
Published: June 2005

AbstractAn infant with deficiency of transcobalamin II (TCII) presented with virtually complete failure to thrive and life‐threatening pancytopenia. Methylmalonic acid and homocystine were found in the urine. The concentration of B12 in the serum was 26 pg/ml. Fibroblasts derived from the patient failed to take up labeled cobalamin in the absence of a source of TCII. Uptake was normal in the presence of TCII. Treatment with parenteral cobalamin reversed the clinical and hematological manifestations of the disease but she developed glossitis when the interval between injections was lengthened. Intestinal absorption of 57Co‐cobalamin was less than 1% and remained abnormal when highly purified human intrinsic factor was given along with the labeled B12. Absorption improved when the labeled B12 was given together with rabbit TCII. The data suggest that TCII as well as intrinsic factor is required for transport of cobalamin from the intestine to the blood.