bluuebunny/crossref_metadata_2025_split huggingface dataset:
Dopamine D4 receptor variants in unrelated schizophrenic cases and controls
Authors: Sommer Steve S. , Lind Tammy J. , Heston Leonard L. , Sobell Janet L. 
Published: June 2005

AbstractThe D4 dopamine receptor (D4DR) exists in multiple allelic forms (Van Tol et al.: Nature 358:149–152, 1992) which involve different numbers of a 48 basepair repeat sequence in the putative third cytoplasmic loop. Different binding properties have been reported for at least three of the alleles in cDNA binding assays with clozapine, an atypical neuroleptic, and spiperone (Van Tol et al., 1992). We have examined 115 unrelated schizophrenic cases defined by DSM‐III‐R criteria and 115 controls of similar ethnicity to determine the frequency of seven different D4 alleles in these groups. No statistically significant difference in the distribution of the alleles existed between cases and controls, although a trend towards a greater prevalence of homozygotes for the 4‐repeat allele was observed in schizophrenics. © 1993 Wiley‐Liss, Inc.
Power to detect linkage with heterogeneity in samples of small nuclear families
Authors: Levinson Douglas F. 
Published: June 2005

AbstractComputer simulation methods were used to investigate the power of genetically homogeneous or heterogeneous samples of nuclear families to detect linkage of a rare dominant disease allele to flanking DNA markers (threepoint analysis, admixture text). Phase was assumed to be unknown (no grandparents available), and unaffected siblings were not considered. A sample of 95 families with an ill parent and two ill offspring, or 45 families with three ill offspring, demonstrated 90% power to detect a lod score of 3.0 when 50% of families were assumed to be segregating for a disease allele located midway between two DNA markers (PIC = .70) that were .05 M apart. When the proportion of linked families (α) = .25, 90% power required 380 and 160 families, respectively. For α < .25, sample size requirements become prohibitive. Issues are reviewed concerning the use of the admixture test in the case of more complex disease models. Screening of the genome with adequate sample sizes for low values of α is likely to require multiple large collaborative efforts. © 1993 Wiley‐Liss, Inc.
Linkage between tyrosine hydroxylase gene and affective disorder cannot be excluded in two of six pedigrees
Authors: Lim Lionel C. C. , Gurling Hugh , Curtis David , Brynjolfsson Jon , Petursson Hannes , Gill Michael 
Published: June 2005

AbstractGenetic linkage between manic depression and DNA markers on the short arm of chromosome 11 was first reported in 1987 but not supported by further analyses. However, genetic markers at the tyrosine hydroxylase (TH) gene located within this region have been reported to show allelic association with the affective disorder phenotype. We present the results of a linkage analysis using polymorphic DNA segments within the TH gene and the nearby dopamine D4 receptor (DRD4) gene in 6 families multiply affected with affective disorder. Small positive Lod scores were obtained in 2 of 6 pedigrees with the TH polymorphism which may be indicative of genetic heterogeneity. © 1993 Wiley‐Liss, Inc.
Risk factors for suicide in huntingtons disease: A retrospective case controlled study
Authors: Lipe Hillary , Schultz Amelia , Bird Thomas D. 
Published: June 2005

AbstractWe reviewed 11 instances of suicide in HD families to determine what clinical and social characteristics might alert health professionals to increased suicide potential. The subjects were eight males and one female affected with HD, one female at risk for HD, and one unaffected female spouse, ranging in age from 24 to 65 years. Six of the nine individuals with HD who committed suicide were single or divorced. Duration of HD symptoms ranged from 1 to 14 years. The single most important risk factor for suicide in HD was having no offspring. Other suicides in the family, being unmarried, having contact with others affected with HD, living alone, and depression slightly increased the risk of suicide. The suicide of an unaffected spouse and an individual at risk, but unaffected, emphasizes the heavy burden of HD on other family members. Recognition of the thesee risk factors should allow health care providers to assist families coping with HD and presymptomatic diagnosis. © 1993 Wiley‐Liss, Inc.
Natural history of trisomy 18 and trisomy 13: I. Growth, physical assessment, medical histories, survival, and recurrence risk
Authors: Baty Bonnie J. , Blackburn Brent L. , Carey John C. 
Published: June 2005

AbstractThe natural history of trisomy 18 and trisomy 13 was investigated using data derived from parent questionaires and medical records from 98 families with an index case of trisomy 18 and 32 families with an index case of trisomy 13. Data are presented on pregnancy, delivery, survival, medical complications, immunizations, growth, cause of death, cytogenetics, and recurrence risk. Half of the trisomy 18 babies were delivered by C‐section. Fetal distress was a factor in half, and the only reason in a third of C‐section deliveries. One minute Apgar scores were significantly lower in C‐section and breech deliveries. There were more small for gestational age babies than in the general population, but most of the low birth weight new borns were small for gestational age, unlike the general population. Survival in this group of children was better than in other studies due to ascertainment bias. There were more girls than boys at all ages for both conditions, and the sex ratio decreased with time. Growth curves for length, weight, head circumference, and weight vs height are provided. Long‐term survival did not appear to be due to mosaicism. We found no adverse reactions attributable to immunizations. At age 1 year there was an average of approximately 2 operations per living child. We report the second case of successful major cardiac surgery in a trisomy 18 child. Almost 70% of deaths were attributed to cardiopulmonary arrest. The sibling recurrence risk for trisomy 18 or trisomy 13 was 0.55%. © 1994 Wiley‐Liss, Inc.
Polydactyly, campomelia, ambiguous genitalia, cystic dysplastic kidneys, and cerebral malformation in a fetus of consanguineous parents: A new multiple malformation syndrome, or a severe form of oral–facial–digital syndrome type IV?
Authors: Adès L. C. , Clapton W. K. , Morphett A. , Morris L. L. , Haan E. A. 
Published: June 2005

AbstractWe describe a 27‐week fetus with occipitoschisis, polydactyly, campomelia, cleft palate, laryngeal dysplasia, ocular colobomata, hepatic fibrosis and intrahepatic cyst, ambiguous genitalia, cystic dyslstic kidneys, and brain malformation. This pattern of abnormalities appears unique. The differential diagnosis is discussed. The parents are first cousins, making autosomal recessive inheritance likely. © 1994 Wiley‐Liss, Inc.
Mutation analysis of 28 Gaucher disease patients: The Australasian experience
Authors: Lewis Barry D. , Nelson Paul V. , Robertson Evelyn F. , Morris C. Phillip 
Published: June 2005

AbstractGaucher disease is the most common lysosomal storage disease. It is an autosomal recessive disorder that results from a deficiency of β‐glucocerebrosidase. Three clinical phenotypes have been described: non‐neuronopathic, acute neuronopathic, and subacute neuronopathic. Genomic DNA from 28 Australasian patients of diverse ethnic origin with Gaucher disease was screened for 3 common mutations (1226G, 1448C and 84GG) using the amplification refractory mutation system (ARMS), and one uncommon mutation (1504T) by restriction enzyme digestion. Thirty‐eight of the 56 independent alleles in these patients were characterized, with 1448C present in 42% and 1226G in 28% of the alleles. The 1226G mutation was associated only with the non‐neuronopathic phenotype and 7 of the 15 patients who carried the 1448C mutation developed neuronopathic disease. Three infants who died in the neonatal period following a rapidly progressive neurodegenerative course carried no identifiable mutations. The 84GG mutation was carried by 2 Jewish patients and 1504T was present in one patient. It is now possible to rapidly identify the common Gaucher mutations using ARMS and restriction enzyme digestion, and our findings confirm the heterogeneity of mutations in Gaucher disease. It is also possible to predict in part the phenotypic outcome when screening patients for these mutations. We consider mutation analysis to be of most use in prenatal diagnosis and for carrier detection within affected families. © 1994 Wiley‐Liss, Inc.
Microphthalmia with linear skin defects (MLS) syndrome: Clinical, cytogenetic, and molecular characterization
Authors: Lindsay Elizabeth A. , Grillo Alessandra , Ferrero Giovanni B. , Roth Elizabeth J. , Magenis Ellen , Grompe Markus , Hultén Maj , Gould Clive , Baldini Antonio , Zoghbi Huda Y. , Ballabio Andrea 
Published: June 2005

AbstractThe microphthalmia with linear skin defects (MLS) syndrome (MIM 309801) is a severe developmental disorder observed in XX individuals with distal Xp segmental monosomy. The phenotype of this syndrome overlaps with that of both Aicardi (MIM 304050) and Goltz (MIM 305600) syndromes, two X‐linked dominant, male‐lethal disorders. Here we report the clinical, cytogenetic, and molecular characterization of 3 patients with this syndrome. Two of these patients are females with a terminal Xpter‐p22.2 delection. One of these 2 patients had an aborted fetus with anencephaly and the same chromosome abnormality. The third patient is an XX male with Xp/Yp exchange spanning the SRY gene which results in distal Xp monosomy. The extensive clinical variability observed in these patients and the results of the molecular analysis suggest that X‐inactivation plays an important role in determining the phenotype of the MLS syndrome. We propose that the MLS, Aicardi, and Goltz syndromes are due to the involvement of the same gene(s), and that different patterns of X‐inactivation are responsible for the phenotypic differences observed in these 3 disorders. However, we cannot rule out that each component of the MLS phenotype is caused by deletion of a different gene (a contiguous gene syndrome). © 1994 Wiley‐Liss, Inc.
Mild growth retardation and developmental delay, microcephaly, and a distinctive facial appearance
Authors: Partington Michael , Anderson Donald 
Published: June 2005

AbstractWe describe a brother and sister from one family and a girl from a second, unrelated family; they have a syndrome of pre‐ and postnatal growth deficiency, developmental delay, a friendly personality, microcephaly, and a distinctive facial appearance marked by thick eyebrows, full cheeks, and a short nose with the columella inserted below the nasal alae. We think this is a new syndrome probably inherited as an autosomal recessive trait. © 1994 Wiley‐Liss, Inc.
Another family with tricho‐rhino‐phalangeal syndrome type III (Sugio‐Kajii syndrome)
Authors: Nagai Toshiro , Nishimura Gen , Kasai Hideaki , Hasegawa Tomonobu , Kato Rumiko , Ohashi Hirofumi , Fukushima Yoshimitu 
Published: June 2005

AbstractTricho‐rhino‐phalangeal syndrome Type III (TRPS III) is a newly defined genetic entity. Only 9 patients in a family and one sporadic patient have been reported. We add another family in which 4 individuals in 3 generations are affected with this autosomal dominant trait. Although they manifested short stature, sparse hair, “pear‐shaped” nose, and coneshaped epiphyses, sharing these findings with TRPS Type I, the presence of a severe form of generalized shortness of all phalanges and metacarpals, and the absences of mental deficiency and exostoses in this family distinguish the disorder from the TRPS Types I and II. Their manifestations are quite similar to those of the patients reported as TRPS III (Sugio‐Kajii syndrome). © 1994 Wiley‐Liss, Inc.
Diffusion of information about neurofibromatosis type 1 DNA testing
Authors: Hofman Karen J. 
Published: June 2005

AbstractThere is little information available as to how individuals with genetic disorders receive information about the availability of DNA tests and what effect this has on their utilization. The purpose of this study was to survey centers where some individuals with neurofibromatosis type 1 (NF 1) are cared for, to establish how this type of information was disseminated. In 1990 announcement of the availability of testing for familial NF 1 was published in a newsletter of the National Neurofibromatosis Foundation (NNFF) and sent to individuals with NF 1 or NF 2 and their families, professionals, and NF centers in North America. Two years later these centers were surveyed to determine whether they had notified their patients of test availability. Of the 46 responding centers, 65% indicated they had attempted to notify their patients. The majority (80%) notified patients on an individual basis in clinic. The rest did so either on an individual basis in the clinic or by telephone or by letter or by a combination of these. Based on a survey response rate of 56% and approximately 1,000 enquiries received by the NNFF from families and physicians, it is concluded that 1) factors other than knowledge of test availability determined whether DNA testing for NF 1 was utilized; 2) some centers used testing more frequently than others; 100% of the referrals came from 40% of the centers, with 15% of referrals coming from a single center; 3) a significant percentage (35%) of NF centers did not inform their patients that DNA testing was available. © 1994 Wiley‐Liss, Inc.
Jarcho‐Levin syndrome: Unusual survival in a classical case
Authors: McCall Caroline P. , Hudgins Louanne , Cloutier Michelle , Greenstein Robert M. , Cassidy Suzanne B. 
Published: June 2005

AbstractSpondylothoracic dysostosis, or Jarcho‐Levin syndrome, together with spondylocostal dysostosis, constitute a heterogeneous group of rare disorders characterized by short‐neck, short‐trunk dwarfism and multiple vertebral anomalies at all levels of the vertebral column. The latter include hemivertebrae, fused, hypoplastic, and “butterfly” vertebrae. In most cases of Jarcho‐Levin syndrome, the small size of the thorax causes respiratory death in infancy. This report of a Puerto Rican child with spondylothoracic dysostosis and unusually long survival to 11 years exemplifies the nosologic and prognostic difficulties associated with this syndrome. © 1994 Wiley‐Liss, Inc.
Elevated MSAFP levels and congenital heart defects: Lack of an association
Authors: Albar H. , MacDonald K. M. , Harman C. R. , Evans J. A. , Chodirker B. N. 
Published: June 2005

AbstractThis study was undertaken to evaluate the relationship between elevated maternal serum alpha fetoprotein (MSAFP) lavels and congenital heart defects. Thirty‐two infants with isolated major congenital heart defects and whose mothers had had MSAFP screening were identified. In only one case was the MSAFP greater than 2.3 multiples of the median. A review of our experience with women with elevated MSAFP levels did not document a higher rate of congenital heart malformations than would be expected based on estimated frequencies in the general population. © 1994 Wiley‐Liss, Inc.
Biparental inheritance of chromosome 21 polymorphic markers indicates that some Robertsonian translocations t(21; 21) occur postzygotically
Authors: Blouin Jean‐Louis , Binkert Franz , Antonarakis Stylianos E 
Published: June 2005

AbstractRobertsonian translocations between acrocentric chromosomes are the most common structural chromosomal rearrangements in humans and many other organisms, and several mechanisms for their formation have been proposed. We have analyzed highly informative DNA polymorphisms in a family with a non‐mosaic de novo Robertsonian translocation 21q; 21q, to determine the parental origin of the two 21q arms of the rearranged chromosome. The genotypes indicated a biparental origin, i.e. one 21q was paternal and the other maternal. These results imply that in some cases the formation of the rob (21q; 21q) occurs in the zygote or in the first few postzygotic mitotic divisions. © 1994 Wiley‐Liss, Inc.
Two cases of Y; autosome translocations: A 45, X male and a clinically trisomy 18 patient
Authors: Farah Solange B. , Ramos Clarisa F. , de Mello Maricilda P. , Sartorato Edi L. , Horelli‐Kuitunen Nina , Lopes Vera L. G. S. , Cavalcanti Denise P. , Hackel Christine 
Published: June 2005

AbstractWe report on 2 cases of Y;autosome translocations. One is a male with normal external genitalia and 45,X karyotype without evidence of mosaicism or apparent translocation on cytogenetic analysis. In situ hybridization showed that the euchromatic portion of the Y‐chromosome is translocated to the chromosome 15. The other case is a clinically trisomy 18 male patient, with modal number of 46, a small metacentric marker with appearance of an i(18p) and cytogenetic and molecular evidence of Y;18 translocation. The occurrence of Y;18 translocation associated with clinical signs of trisomy 18 is reported here for the first time. © 1994 Wiley‐Liss, Inc.
Abnormality of type IX collagen in a patient with diastrophic dysplasia
Authors: Diab Mohammad , Wu Jiann‐Jiu , Shapiro Frederic , Eyre David 
Published: June 2005

AbstractThere is growing evidence that a spectrum of chondrodysplasias are caused by mutations in the gene coding for type II collagen. The basic molecular defect in diastrophic dysplasia has not been defined, but it appears not to be in collagen type II. Cartilage contains other tissue‐specific collagens, types IX, X, and XI, but no mutations have yet been found in their genes in clinical disease. Type IX collagen is hypothesized to play a role in the regulation of type II collagen fibril organization and structure in cartilage extracellular matrix. In this study, we have examined iliac crest growth cartilage from a patient with diastrophic dysplasia. Although collagen fibrils were markedly increased in diameter on transmission electron microscopy, type II collagen appeared to be normal biochemically. Type XI collagen was also normal. However, type IX collagen appeared abnormal on sodium dodecyl sulfate polyacrylamide gel electrophoresis with a pronounced excess of the COL1 domain of the molecule in pepsin extracts. The findings point to an abnormality in structure or metabolism of type IX collagen in diastrophic dysplasia. © 1994 Wiley‐Liss, Inc.
Duplication and deletion of chromosome band 2(p21p22) resulting from a familial interstitial insertion (2;11)(p21;p15)
Authors: Sawyer Jeffrey R. , Jones Emmett , Hawks Flora F. , Quirk J. Gerald , Cunniff Christopher 
Published: June 2005

AbstractRoutine amniocentesis for advanced maternal age led to the prenatal diagnosis of a fetus with a karyotype of a 46,XX,del(2)(p21p22). At delivery the baby had holoprosencephaly as the major clinical finding, which has been associated with a deletion of band 2p21 in several other case reports. Chromosome studies of the parents showed a normal 46,XY karyotype in the father, and a balanced interstitial insertion 46,XX dir ins (11;2)(p15.1;p21p22) in the mother. Subsequent chromosome studies of other relatives documented a 23‐year‐old half‐brother of the proposita with a partial trisomy for the segment deleted in the proposita. The half‐brother showed the derivative chromosome 11 from the mother, resulting in a 46,XY,der(11)dup(2)(p21p22) karyotype. Major clinical findings include short stature, mild development delay, and behavior abnormalities. A half‐sister of the proposita is also a balanced carrier of the dir ins (11;2) (p15.1;p21p22.2). The association of the deletion chromosome band 2p21 and the clinical finding of holoprosencephaly is further supported by the findings in this family. © 1994 Wiley‐Liss, Inc.
Achondrogenesis type IB (Fraccaro): Study of collagen in the tissue and in chondrocytes cultured in agarose
Authors: Freisinger P. , Stanescu V. , Jacob B. , Cohen‐Solal L. , Maroteaux P. , Bonaventure J. 
Published: June 2005

AbstractA lethal chondrodysplasia characterized by extreme micromelia was diagnosed by ultrasound examination in two sibs whose nonconsanguineous parents were healthy. Radiographic and histopathologic data indicated that the two foetuses (18 and 21 weeks old) had achondrogenesis type IB (Fraccaro). Quantitation of total collagen extractable from dried cartilage samples demonstrated a 50% decrease when compared to an age‐related control. This decrease was essentially related to type II collagen. Nevertheless, the α chains and the CB peptides of type II collagen had a normal electrophoretic mobility. A significant amount of collagen type I was also detected. The electrophoretic pattern of collagens type IX and XI did not differ significantly from control sample.The extracellular matrix elaborated by patient chondrocytes cultured in agarose for 10–12 days, contained less collagen type II than normal cells. Labelling with 14C‐proline of cultured cells showed the presence of pro‐collagen and type II collagen chains with a normal electrophoretic mobility, but an α2(I) chain was detectable in the patient material, indicating the presence of collagen type I which supported the tissue findings. The significance of the type II collagen reduction in the patient's cartilage is unclear but it is unlikely to be the primary defect in achondrogenesis type I. © 1994 Wiley‐Liss, Inc.
Prenatal diagnosis of partial trisomy 1q using fluorescent in situ hybridization
Authors: DuPont B. R. , Huff R. W. , Ridgway L. E. , Stratton R. F. , Moore C. M. 
Published: June 2005

AbstractWe report the use of fluorescent in situ hybridization (FISH) with a DNA library of chromosome 1‐specific probes to confirm the karyotype, 46,XY,15, + der15,t(1;15)(q32.1; q26.3), obtained by prenatal periumbilical blood sampling from a fetus who exhibited multiple abnormalities by ultrasound examination. GTG‐banding of chromosomes obtained from the mother showed a normal karyotype, while the father was unavailable for study. The propositus was born at 37 weeks gestation and survived for several weeks. Cytogenetic analysis performed after the birth of the male infant with multiple anomalies verified partial trisomy 1q. This patient is compared with other partial trisomy 1q patients reported in the literature. The usefulness of FISH is demonstrated in situations where fetal abnormalities are present with de novo chromosomal rearrangements where paternal chromosomes are unavailable for study. © 1994 Wiley‐Liss, Inc.
Fallot complex, severe mental, and growth retardation: A new autosomal recessive syndrome?
Authors: Bindewald Bettina , Ulmer Herbert , Müller Ulrich 
Published: June 2005

AbstractWe report on the syndromic occurrence of the Fallot complex in sibs born to consanguineous Pakistani parents. Additional manifestations included minor facial anomalies, pronounced failure to thrive, and mental retardation. Expression of the syndrome varied. While one of the four patients had cardiac malformations, another sib had only non‐cardiac manifestations. The clinical findings suggest a new autosomal recessive syndrome. © 1994 Wiley‐Liss, Inc.