bluuebunny/crossref_metadata_2025_split huggingface dataset:
Prenatal diagnosis and carrier detection in fragile X
Authors: Von Koskull Harriet , Nordström Ann‐Marie , Salonen Riitta , Peltonen Leena 
Published: June 2005

AbstractPrenatal diagnosis was performed in 81 cases at risk for the fragile X syndrome. There were 12 fra (X)‐positive cases, two of which showed low expression in cultured amniotic fluid cells. FUdR and high thymidine were used for induction of fra(X) (q27.3) expression in all cases. In 21 cases linkage studies were performed, 7 with probes for the loci DXS52, DXS98 and DXS105, 13 with probes for DXS369 and DXS296, DXS304 or DXS374 and one with the probe Do33 for DXS465. In 11 of these cases linkage analysis gave risk figures higher than 95% or lower than 5%, all in concordance with the cytogenetic findings. Discordance was found in three cases studied earlier, the two cases with low expression mentioned above and one cytogenetically normal case, which were now restudied with the new probes. RFLP‐studies and linkage analysis was also performed for 24 cytogenetically fra(X)‐negative females having a 50%, 25% or 12.5% risk of being carriers according to pedigree data. In 15 cases the risk dropped to 1% or less. Six of these women were pregnant and had asked for prenatal diagnosis but after genetic counseling prenatal diagnosis was avoided.
Limited size of the fragile X site shown by fluorescence in situ hybridization
Authors: Verkerk Annemieke J. M. H. , Eussen Bert H. J. , Van Hemel Jan O. , Oostra Ben A. 
Published: June 2005

AbstractCosmids, isolated from a 475 kb YAC that spans the fragile X region, and the YAC itself, were used for fluorescence in situ hybridization (FISH) on metaphase chromosomes from fragile X patients. Cosmid 22.3, containing most of the hybrid translocation breakpoints, shows in situ hybridization signals distal and proximal from the fragile X site. We propose that the size of the fragile site is limited to 20 kb.
On some technical aspects of direct DNA diagnosis of the fragile X syndrome
Authors: Rousseau F. , Heitz D. , Biancalana V. , Oberlé I. , Mandel J. L. 
Published: June 2005

AbstractDirect DNA analysis of fragile X [Fra (X)] mutations has already shown its clear superiority for postnatal and prenatal diagnosis of the disorder and for carrier detection. However, it is of great importance to have conditions which gurantee optimal reliability and sensitivity. Some mutations may be more difficult to detect, especially in female carriers: this is the case for small amplifications of the CGG repeat (premutations) or for smears which can be generated by the instability of the full mutation in somatic tissues. We present the various alternatives (probe/enzymes combinations) for Southern blot based diagnosis, the possible artefacts and our detailed experimental protocol, which has given excellent results on a large number of families. While detection of amplification, using for instance EcoRI, appears sufficient for initial testing of mentally retarded patients, once the fra(X) diagnosis has been established, we favor the use of an EcoRI +EagI digest, which detects both amplification and abnormal methylation, for analysis of the family, including carrier detection and prenatal diagnosis. We discuss the place of proposed PCR based techniques for detection of mutations, or for indirect tracking using polymorphic microsatellites in the immediate vicinity of the fra(X) locus.
Two families with Xq27.3 fragility, no detectable insert in the FMR‐1 gene, mild mental impairment, and absence of the Martin‐Bell phenotype
Authors: Dennis Nicholas R. , Curtis Greta , Macpherson James N. , Jacobs Patricia A. 
Published: June 2005

AbstractIn 2 families, propositi were investigated because of mild developmental delay and, in one case, behavior disorders. Seven males in the 2 families were found to have a fragile site at Xq27.3 but the usual insert in the FMR‐1 gene was absent. The affected males had mild, or in some cases, no clear intellectual impairment and did not have the Martin‐Bell phenotype. Carrier females in one family tended to show a high level of cytogenetic expression of the fragile site but were clinically normal.It is not yet clear whether these families have unusual mutations in the FMR‐1 gene or whether their fragile sites are different, but cytogenetically indistinguishable from, that associated with inserts in the FMR‐1 gene.
Parental origin of the Fra(X) gene is a major determinant of the cytogenetic expression and the CGG repeat length in female carriers
Authors: Smits Arie , Smeets Dominique , Dreesen Jos , Hamel Ben , de Haan Anton , van Oost Bernard 
Published: June 2005

AbstractThe fragile X [fra(X)] syndrome is the most frequent form of inherited mental retardation, and co‐segregates with a fragile site at Xq27.3 as well as with insertion of a variable number of trinucleotide repeats in the 5′‐end of the FMR‐1 gene. As the fra(X) gene is transmitted by females as well as males, we have investigated whether the parental origin of the fra(X) gene has an effect upon the cytogenetic expression and CGG repeat length. An increased fragment length of 0.2 ‐ 0.6 kb appeared to be associated with a very low expression or even complete absence of the fragile site as well as with a normal phenotype, and was seen mostly in cases of paternal inheritance. However, in most female carriers with the maternally inherited fra(X) gene we found dispersed fragments ranging from 1.4 ‐ 6.5 kb or even complete absence of a hybridization signal. Within the group of female carriers with the maternally inherited fra(X) gene we found a statistically significant correlation between the level of the cytogenetic expression and the PstI restriction fragment length encompassing the CGG repeat. These data can be taken as indirect evidence that CGG repeat length and cytogenetic expression are causally related.
Direct DNA analysis of fragile X syndrome in Spanish pedigrees
Authors: Tejada Isabel , Mornet Etienne , Biancalana Valérie , Oberlé Isabelle , Boué Joelle , Mandel Jean‐Louis , Boué André 
Published: June 2005

AbstractEleven complete Spanish pedigrees with fragile X syndrome were analysed by Southern blotting with the DNA probe StB 12.3 previously isolated and described by Oberlé et al. [1991]. This probe allowed the direct detection of affected males and carrier females and was able to distinguish between normal males and normal transmitting males (NTMs). One hundred and twenty three individuals were analyzed, 115 from the pedigrees and 8 from the general population. Five mosaic cases were found (4 males and one female) showing both the premutation and the full mutation. One half of the females with the full mutation were mentally retarded but no female with mental retardation carried the premutated pattern, suggesting that the absence of the full mutation in females is a very good criterion for pre‐or postnatal diagnosis of normal mental status.
Fragile X mental retardation and the iduronate sulphatase locus: Testing laird's model of Fra(X) inheritance
Authors: Clarke A. , Bradley D. , Gillespie K. , Rees D. , Holland A. , Thomas N. S. T. 
Published: June 2005

AbstractFragile X [fra(X)] mental retardation syndrome is the most frequent familial cause of mental handicap. The clinical phenotype is associated with a rare fragile site at Xq27.3. The mutation underlying the disorder, an insertion into the FMR‐1 gene, has been characterized, but the pathogenesis of the condition is obscure and the pattern of inheritance is still not fully understood.One model of fra(X) pathogenesis was proposed by Laird in 1987, suggesting that the fra(X) mutation acts as a cis‐acting, local block to the pre‐oogenesis reactivation of the inactivated X chromosome. To test this model, we examined the activity of the F8, F9 and iduronate sulphatase (IDS) loci.The level of IDS in the serum of fra(X) males was found to be very significantly reduced in the fra(X) group when compared to that of control males: this lends support to Laird's model of fra(X) pathogenesis. However, we detected no methylation differences between fra(X) and control samples at the IDS locus, although such changes are known in fra(X) males at sites closer to the fragile site. Thus the mechanism of the reduction in IDS activity has not been identified.
Fragile X screening program in a spanish region
Authors: Gabarrón Joaquina , Lopez Isabel , Glover Guillermo , Carbonell Pablo 
Published: June 2005

AbstractIn a Spanish region with a population of one million, we screened 371 mentally retarded males, who had no previous diagnosis for fragile X [fra(X))] syndrome. Fifty‐three of the 371 males were fra(X) positive. Of these 44 of 362 or 12.1% were unrelated. Family studies identified a large number of obligate carriers and women at risk for being carriers who were given genetic counseling including prenatal diagnostic information. Considering the age of the carriers and the fertility rate, 23 affected males could be born to these women. The prevention potential of this program suggests that it is highly cost‐effective.
Nomenclature guidelines for X‐linked mental retardation
Authors: Mulley J. C. , Kerr B. , Stevenson R. , Lubs H. 
Published: June 2005

AbstractNomenclature guidelines are proposed for non‐specific and for syndromal forms of X‐linked mental retardation. Non‐specific mental retardations (MRX) are given unique symbols for each family (MRX1, MRX2, MRX3 …). Syndromal mental retardations (MRXS) which do not as yet have specific symbols are given unique interim symbols for each syndrome (MRXS1, MRXS2, MRXS3 …). The prerequisite for assignment of serial MRX and MRXS gene symbols is a minimum lod score (or multipoint lod score) of +2 between the MR locus and one or more X chromosome markers. Prior approval of availability for proposed gene symbols must be obtained from the Nomenclature Committee of the Human Gene Mapping Workshops.
MASA syndrome: Delineation of the clinical spectrum at prepubertal age
Authors: Fryns J. P. , Schrander‐Stumpel C. , De Die‐Smulders C. , Borghgraef M. , Van Den Berghe H. 
Published: June 2005

AbstractHere we describe the clinical and neurological findings in 2 brothers with MASA syndrome and the changes in phenotypic and neurological findings during the prepubertal period.MASA syndrome seems to be an X‐linked mental retardation syndrome with progressively appearing manifestations and neurological signs, making clinical diagnosis before age 4 years difficult.
Linkage of nonspecific X‐linked mental retardation to Xq21.31
Authors: Jedele Kerry B. , Michels Virginia V. , Schaid Daniel J. , Schowalter Karen V. , Thibodeau Stephen N. 
Published: June 2005

AbstractMental retardation unassociated with the Fragile X syndrome accounts for up to 60% of patients with X‐linked mental retardation. In this investigation, we report on a family with mild non‐specific X‐linked mental retardation (MRX) without other apparent phenotypic abnormalities. Linkage analysis on 27 relatives using 18 polymorphic markers spanning the X‐chromosome demonstrated close linkage to DXYS1 with a peak LOD score of 2.14 at a θ of 0. Numerous families with various types of MRX have now been studied by other investigators using molecular genetic techniques. In addition to the family described in this report, a number of these have demonstrated linkage to the DXYS1 locus. These data suggest that a gene for mental retardation may exist in the region of DXYS1. Alternatively, this area of the X‐chromosome may harbor multiple different but closely linked genes which cause the various types of MRX.
New XLMR syndrome with characteristic face, hypogenitalism, congenital hypotonia and pachygyria
Authors: Zollino M. , Mastroiacovo P. , Zampino G. , Mariotti P. , Neri G. 
Published: June 2005

AbstractA previously unreported X‐linked MCA/MR syndrome is described in 4 members of a large family. Phenotypic manifestations include mental retardation, microcephaly, failure to thrive, severe congenital hypotonia, characteristic face, hypogenitalism, pachygyria. This appears to be an X‐linked dominant trait with decreased penetrance and expressivity in carrier females.
Spastic paraplegia with iron deposits in the basal ganglia: A new X‐linked mental retardation syndrome
Authors: Arena J. Fernando , Schwartz Charles , Stevenson Roger , Lawrence Laura , Carpenter Anna , Duara Ranjan , Ledbetter David , Huang Tim , Lehner Thomas , Ott Jurg , Lubs Herbert A. 
Published: June 2005

AbstractWe report on a family with X‐linked mental retardation (XLMR) and severe spastic paraplegia. Appearance is normal but there is severe involvement of the lower limbs (affected relatives never walked), with minimal involvement of the upper limbs and unusual MRI findings including macrogyria, white matter hypoplasia, lack of myelination and a markedly increased paramagnetic signal suggestive of iron deposition. Linkage studies documented possible linkage, with no recombination, between the disease locus and DXS424. A 7‐point linkage analysis yielded a maximum LOD score of 1.9, (θ=0.00) for three loci spanning Xq22‐q25. The combination of the unusual clinical and MRI findings and the tentative localization to a region different than other XLMR syndromes with spastic paraplegia, provide good evidence that this is a new XLMR syndrome.
Allan‐herndon‐dudley syndrome: Clinical and linkage studies on a second family
Authors: Bialer Martin G. , Lawrence Laura , Stevenson Roger E. , Silverberg Gittel , Williams Marjorie K. , Arena J. Fernando , Lubs Herbert A. , Schwartz Charles E. 
Published: June 2005

AbstractWe restudied a family with X‐linked mental retardation (XLMR) originally reported in abstract form by Davis et al. [1981]. All 8 living affected males were examined. Characteristics included severe mental retardation, spastic paraplegia, dysarthria, muscle wasting, scoliosis, broad shallow pectus excavatum, long face, large ears with minor modeling anomalies, foot deformities, joint contractures, and neck drop. Stature, OFC, testicular volume, high resolution chromosome and fragile X studies, and plasma amino acids were all normal. Their manifestations closely resemble those of a large family with XLMR originally reported by Allan et al. [1944] and restudied by Stevenson et al. [1990]. This condition has been termed the Allan‐Herndon‐Dudley syndrome (AHDS). As AHDS has been mapped to Xq21, mapping studies were undertaken to determine if this family maps to the same location. These studies demonstrate tight linkage to Xq21, with a maximum lod score of 2.88 obtained with probe pX65H7 (DXS72). Multipoint analysis located the mutant gene quite close to pX65H7 (multipoint Z=4.14), slightly more proximal in Xq21 than was suggested by the data from the original AHDS family. It appears likely that this family is the second reported family with AHDS.
Monosomy 18q 12.1→21.1: A recognizable aneuploidy syndrome? Report of a patient and review of the literature
Authors: Krasikov Natalie , Thompson Kate , Sekhon Gurbax Singh 
Published: June 2005

AbstractThis report of a patient with an interstitial deletion 18q and review of previously described cases suggest a clinically recognizable syndrome. The phenotype appears to result from a microdeletion of part of 18q12.2 or q12.3, or a deletion of parts of both bands. © 1992 Wiley‐Liss, Inc.
Recognizable behavioral and somatic phenotype in patients with proximal interstitial 18q deletion: Report on a new affected child and follow‐up on the original reported familial cases
Authors: Chudley Albert E. , Kovnats Sylvia , Ray Manoranjan 
Published: June 2005

AbstractWe describe a moderately retarded boy with a chromosome 18 deletion involving the regions q11.2q12.2. His phenotype is similar to that of other reported cases of proximal interstitial deletions involving 18q. We also provide follow‐up information on the first 4 cases of proximal interstitial deletion of 18q from a family with a complex chromosome rearrangement originally reported in 1974. © 1992 Wiley‐Liss, Inc.
Endocardial cushion defect: Further studies of “isolated” versus “syndromic” occurrence
Authors: Carmi Rivka , Boughman Joann A. , Ferencz Charlotte 
Published: June 2005

AbstractThe isolated occurrence of endocardial cushion defect (ECD) has been suggested to differ from its occurrence within the context of a syndrome, with regard to the nature (complete or partial) of the defect and the associated cardiovascular malformations. Analysis of data derived from the Baltimore‐Washington Infant Study of congenital cardiovascular malformations supports the observation that “syndromic” ECD tends to be of the complete atrioventricular canal type and is less frequently associated with left cardiac anomalies than the isolated form. However, each syndrome has a unique impact on the overall cardiovascular “phenotype,” including the ECD. This is especially true for Down and Ivemark syndromes, which are most frequently associated with ECD, but also for other syndromes as well. It is also suggested that isolated ECD is specifically associated with gastrointestinal and urinary tract anomalies. However, in Down syndrome ECD appears to be a specific cardiovascular expression of the trisomic state that is unrelated to other noncardiac malformations. Additional information on the association of ECD with other less common genetic syndromes is needed in order to further investigate the possible genetic basis of this cardiac defect. © 1992 Wiley‐Liss, Inc.
Ring chromosome 20 and possible assignment of the structural gene encoding human carboxypeptidase‐L to the distal segment of the long arm of chromosome 20
Authors: Halal Fahed , Chitayat David , Parikh Hasu , Rosenblatt Bernard , Tranchemontagne Julie , Vekemans Michel , Potier Michel 
Published: June 2005

AbstractWe report on a 14‐year‐old boy with ring chromosome 20. Clinical manifestations included postnatal growth retardation, epilepsy, microcephaly, behaviour disorder, minor facial anomalies, small sella turcica, possible partial growth hormone deficiency, and mental retardation. A decreased activity of enzyme carboxypeptidase‐L/ protective protein (CP/PP) in cultured fibroblasts was demonstrated in our patient and a patient with a karyotype 46,XY,−14,+der(14)t(14;20)(14pter→14q32.3::20q13.1→20qter)mat. This suggests possible assignment of the CP/PP gene to the distal segment of 20q. © 1992 Wiley‐Liss, Inc.
Trisomy 16p in a liveborn offspring due to maternal translocation t(16;21)(q11;p11) and review of the literature
Authors: Léonard Claude , Huret Jean Loup , Imbert Marie‐Claude , Lebouc Yves , Selva Jacqueline , Boulley Anne‐Marie 
Published: June 2005

AbstractWe report on a case of dup(16p) and review previous cases. The triplicated chromosome region leading to this specific syndrome lies in 16p13.1 p13.3. Most of the cases are inherited and the mode of segregation was found to be 3:1 in half of the cases, but these observations might be due to biases. The other chromosomes involved in the translocations as well as the breakpoints in these chromosomes do not appear to be random. © 1992 Wiley‐Liss, Inc.
New variant in exon 3 of the proteolipid protein (PLP) gene in a family with pelizaeus‐merzbacher disease
Authors: Pratt Victoria M. , Trofatter James A. , Larsen Marianne B. , Hodes M. E. , Dlouhy Stephen R. 
Published: June 2005

AbstractA C → G transversion has been found in exon 3 of the PLP gene of affected males and their mother in a single sibship with Pelizaeus‐Merzbacher disease (PMD). The transversion should not result in an amino acid change in the protein but it does result in the loss of a HaeIII restriction endonuclease cleavage site. It is concordant with the disease in this family. One‐hundred‐ten unrelated X chromosomes are negative for this mutation. No other sequence defect was found in the PLP exons of the affected males. The cause of disease in this family remains unknown, but the association between this rare mutation and PMD is intriguing. The mutation can serve as a marker for following segregation of the PLP gene.
Bilateral anophthalmia, esophageal atresia, and right cryptorchidism: A new entity?
Authors: Arroyo Ignacio , García María Jesús , Cimadevilla Carmen Eloína , Carretero Valentín , Bermejo Eva , Martínez‐Frías María Luisa 
Published: June 2005

AbstractWe report on a child with bilateral anophthalmia, esophageal atresia, and cryptorchidism. This is the first case observed in the Spanish Collaborative Study of Congenital Malformations (ECEMC) with this constellation of congenital anomalies, and it is similar to that described in 1988 by Rogers. We think that it may constitute a new syndrome. © 1992 Wiley‐Liss, Inc.
Trisomy 9: An additional case with unique manifestations
Authors: de Michelena María I. , Sánchez Raul , Muñoz Pedro , Cabello Emilio , Rojas Pablo , de Olazaval Eduardo 
Published: June 2005

AbstractWe report on an infant with multiple congenital anomalies and mosaic trisomy 9. Clinical findings are presented, and compared with those of the 24 cases previously reported. Some unusual characteristics found in this patient include macrocephaly, an extreme degree of palatal hypoplasia, and abnormally shaped long bones. © 1992 Wiley‐Liss, Inc.
Interstitial deletion of 10q: Clinical features and literature review
Authors: Lobo Sandra , Cervenka Jaroslav , London Arnold , Pierpont Mary Ella M. 
Published: June 2005

AbstractWe report on a patient with interstitial deletion of 10q and compare her to 8 previously described patients, 2 of whom have chromosomal breakpoints similar to our patient. Minor anomalies including broad forehead, hypertelorism, strabismus, prominent philtrum, and “dysplastic” pinnae are present in our patient. Psychomotor retardation and hypotonia are universal findings in 10q interstitial deletion. Growth retardation, not present in our patient, is seen in some. These clinical findings are sufficiently distinct to suggest early chromosome studies. © 1992 Wiley‐Liss, Inc.
Paraplegia and congenital contractures as a consequence of intrauterine trauma
Authors: Weyerts Leah K. , Jones Marilyn C. , James Hector E. 
Published: June 2005

AbstractWe present a newborn infant with paraplegia and contractures of the lower limbs, consistent with neurologic injury rather than malformation. The mother was involved in a severe motor vehicle accident during the sixth month of pregnancy. We propose that this infant's injuries are a result of that accident. © 1992 Wiley‐Liss, Inc.
Trisomy 18 and a constitutional maternal translocation (2;18)
Authors: Teshima Ikuko E. , Winsor Elizabeth J. T. , Van Allen Margot I. 
Published: June 2005

AbstractParental chromosomes are usually not analyzed in cases of trisomy 18 because the extra 18 is assumed to have arisen through a meiotic nondisjunctional event. We report on a case of a trisomy 18 and a maternal translocation (2;18)(q34;q12). © 1992 Wiley‐Liss, Inc.
Poland anomaly with a limb body wall disruption defect: Case report and review
Authors: Bamforth J. Stephen , Fabian Clifford , Machin Geoffrey , Honore Louis 
Published: June 2005

AbstractWe describe a female infant with apparent Poland anomaly (PA) and limb body wall defect.Analysis of the defects suggest that a disruption of the lateral embryonic plate mesoderm may have been responsible for the observed lesions. Because of the overlap of this case with PA, we re‐examined previous reports of this syndrome. We think that the lesions could be equally well explained as a mesodermal disruption, and point out a previously unrecognised discrepancy between sex and affected side in sporadic PA and inherited PA which supports this view. © 1992 Wiley‐Liss, Inc.
Autosomal recessive acrorenal syndrome
Authors: Miltényi Miklós , Czeizel Andrew E. , Balogh Lidia , Detre Zoltán 
Published: June 2005

AbstractWe describe two sibs with tetraectrodactyly and oligomeganephronic renal hypoplasia. The parents were unaffected. This syndrome of apparently autosomal recessive origin appears to be the first Mendelian form of the acrorenal developmental field defect identified so far. © 1992 Wiley‐Liss, Inc.