bluuebunny/crossref_metadata_2025_split huggingface dataset:
Mesomelic limb shortness: A previously unreported autosomal recessive type
Authors: Reardon W. , Hall C. M. , Slaney S. , Huson S. M. , Connell J. , Al‐Hilaly N. , Fixsen J. , Baraitser M. , Winter R. M. 
Published: June 2005

AbstractWe report on sibs, the offspring of a consanguineous mating, whose mesomelic shortness and bowing of limbs with associated skin dimpling, retrognathia, mandibular hypoplasia, cleft palate, and camptodactyly represents a previously apparently unreported syndrome. The radiological findings are discussed, particularly with regard to the main known diagnostic possibilities. © 1993 Wiley‐Liss, Inc.
Prenatal detection of de novo paracentric inversion 46, XX inv (14) (q22q32.1) in a normal child: Report and review of the literature
Authors: Hales Holly An , Peterson C. Matthew , Carey John , Hecht Barbara Kaiser‐McCaw , Hecht Frederick 
Published: June 2005

AbstractWe present prenatal diagnosis and follow‐up examination of an individual with a de novo paracentric inversion of the long are of chromosome 14. A literature search documented 19 other cases of paracentric inversion of 14q. The outcome of each of these cases is specified together with that of this current case. Four of the 20 cases, all XY, manifested significant abnormalities with mental retardation and microcephaly present in 3 of the 4 cases; 15% (2/13) of familial cases had abnormalities and 40% (2/5) of de novo cases had abnormalities. © 1993 Wiley‐Liss, Inc.
Fetal alcohol syndrome in twins of alcoholic mothers: Concordance of diagnosis and IQ
Authors: Streissguth Ann P. , Dehaene Philippe 
Published: June 2005

AbstractThe effects of teratogens can be modified by genetic differences in fetal susceptibility and resistance. Twins of alcoholic mothers provide a unique opportunity to study this phenomenon with respect to alcohol teratogenesis. Sixteen pairs of twins, 5 MZ and 11 DZ, all heavily exposed to alcohol prenatally, were evaluated. They represented all available twins of alcohol‐abusing mothers who were on the patient rolls of the authors. The rate of concordance for diagnosis was 5/5 for MZ and 7/11 for DZ twins. In two DZ pairs, one twin had fetal alcohol syndrome (FAS), while the other had fetal alcohol effects (FAE). In 2 other DZ pairs, one twin had no diagnosis while one had FAE. IQ scores were most similar within pairs of MZ twins and least similar within pairs of DZ twins discordant for diagnosis. Despite equivalent alcohol exposure within twin pairs, alcohol teratogenesis appears to be more uniformly expressed in MZ than in DZ twins. These data are interpreted as reflecting the modulating influence of genes in the expression of the teratogenic effects of alcohol. © 1993 Wiley‐Liss, Inc.
Genetic contributions to quantitative lipoprotein traits associated with coronary artery disease: Analysis of a large pedigree from the Bogalusa heart study
Authors: Heiba Ibrahim M. , DeMeester Cynthia A. , Xia Yu‐Rong , Diep Anh , George Varghese T. , Amos Christopher I. , Srinivasan Sathanur R. , Berenson Gerald S. , Elston Robert C. , Lusis Aldons J. 
Published: June 2005

AbstractA pedigree of a large family with high prevalence of heart disease is subjected to association and sib‐pair linkage analysis to investigate the role of 5 candidate genes in the regulation of lipoprotein metabolism and the development of coronary artery disease. At the 5% nominal significance level, the apolipoprotien B locus (APOB) was found to be linked to high‐density lipoprotein cholestrol level (HDL‐C), low‐density lipoprotein cholestrol level (LDL‐C), the ratio HDL‐C/LDL‐C, and apolipoprotein AI level times this ratio (apoAI × LDL‐C/HDL‐C). APOB (PvuII) was strongly associated with apolipoprotein B levels (apoB) (P = 0.006) and the VNTR region of the APOB locus showed highly significant association between allele 7 and low triglyceride levels (P = 0.004). No significant linkage results were found with cholesterol ester transfer protein (CETP). At the 1% nominal significance level, CETP [TaqI(B)] showed significant association with LDL‐C, apoB, and HDL‐C/LDL‐C. There was significant linkage of lipoprotein lipase (LPL) with very‐low‐density lipoprotein cholestrol and the ratio apoAI/HDL‐C, and strong association results between LPL (HindIII) and triglyceride levels (P = 0.005). At the 5% nominal significance level, haptoglobin (HPA) was associated with HDL‐C, HDL‐C/LDL‐C, apoAI/HDL‐C and apoAI × LDL‐C/HDL‐C. The apolipoprotein AI locus did not show any significant linkages or associations. The study thus indicated that genetic variation of APOB, LPL, CETP, and lecithin cholestrol acyl transferase (which is linked to HPA and CETP) may play an important role in the regulation of lipoprotein metabolism and could contribute to the risk of coronary artery disease. © 1993 Wiley‐Liss, Inc.
Two additional cases of the Ohdo blepharophimosis syndrome
Authors: Maat‐Kievit Anneke , Brunner Han G. , Maaswinkel‐Mooij Petra 
Published: June 2005

AbstractTwo additional cases of the Ohdo blepharophimosis syndrome are described and compared to the 5 patients previously reported. Blepharophimosis, ptosis, dental hypoplasia, mental retardation, and deafness can be considered as common manifestations of the syndrome. Male patients show cryptorchidism and scrotal hypoplasia. © 1993 Wiley‐Liss, Inc.
Cleft lip (± cleft palate) in Danish twins, 1970–1990
Authors: Christensen Kaare , Fogh‐Andersen Poul 
Published: June 2005

AbstractA classical twin study is one of the best methods to address the open question of the role of genes and environment in the cause of cleft lip with or without cleft palate [CL(P)]. In addition, when twin concordance rates are combined with information about the risk for CL(P) to more remote relatives, they can help to establish the most likely mode of inheritance for CL(P).The present study was based on three nation wide ascertainment sources of CL(P) in twins in Denmark during the period 1970‐1990. The Danish surgical files were found suitable for ascertaining twins with non‐syndromic CL(P) and a total of 39 pairs was identified through these files. In more than 70% of the cases, the zygosity assignment was based on unlike‐sex or an extensive panel of blood, serum, and enzyme types. More mono‐ and dizygotic twin CL(P) cases than expected were found, although the difference was not significant. The proband concordance rate for CL(P) was 60% in monozygotic twins and 10% in dizygotic twins; six cases were of unknown zygosity. This finding indicates that genetic factors play a major role in the cause of CL(P) but environmental and/or stochastic factors are probably acting too.When the familial recurrence patterns analyzed by Mitchell and Risch 1992: Am J Hum Genet 51:323‐3321 are interpreted in light of these new estimates of monozygotic concordance, they provide further evidence for the finding that no single locus can account for more than a six‐fold increase in risk to first‐degree relatives. © 1993 Wiley‐Liss, Inc.
Association of familial duane anomaly and urogenital abnormalities with a bisatellited marker derived from chromosome 22
Authors: Cullen Paul , Rodgers Catherine S. , Callen David F. , Connolly Vincent M. , Eyre Helen , Fells Peter , Gordon Harold , Winter Robin M. , Thakker Rajesh V. 
Published: June 2005

AbstractWe report a spectrum of defects that were found in an 18‐year‐old girl who presented for investigation of primary amenorrhea. The patient was found to have Duane anomaly, left renal agenesis, absent uterus, bilateral sen‐sorineural deafness, and bilateral preauricular skin tags and sinuses. Investigation of her family showed that her brother also had Duane anomaly, right renal agenesis, sensorineural deafness, and preauricular skin tags. Cytogenetic analysis, including in situ hybridisation of peripheral blood lymphocytes, demonstrated a supernumerary bisatellited marker chromosome derived from the region of chromosome 22pter‐q11 in the affected individuals. Our findings indicate that a gene or genes located in the region of chromosome 22pter‐q11 may be associated with the Duane anomaly and the development of the urogenital tract. © 1993 Wiley‐Liss, Inc.
Uncombable hair, retinal pigmentary distrophy, dental anomalies, and brachydactyly: Report of a new patient with additional findings
Authors: Silengo M. , Lerone M. , Romeo G. , Calcagno E. , Martucciello G. , Jasonni V. 
Published: June 2005

AbstractA new ecttodermal dysplasia syndrome was reported by Bork et al. in 1987 (Hautarzt 38:342–347). The syndrome consisted of hypotrichosis with the typical SEM (scanning electron microscopy) changes of uncombable hair, retinal pigmentary dystrophy, juvenile cataract, oligodontia, brachydactyly with brachymetacarpia; it was inherited as an autosomal dominant trait. We describe a sporadic case and add further chinical findings to expand the spectrum of this rare syndrome. © 1993 Wiley‐Liss, Inc.
Familial Brachmann‐de Lange syndrome: Further evidence for autosomal dominant inheritance and review of the literature
Authors: Feingold Murray , Lin Angela E. 
Published: June 2005

AbstractWe report on a mother and daughter with the Brachmann‐de Lange syndrome which supports the view that in some families this disorder is due to autosomal dominant inheritance. A review of the literature concerning autosomal and recessive inheritance of this syndrome is presented. © 1993 Wiley‐Liss, Inc.
Partial duplication of 3q (q25.1→q26.1) without the Brachmann‐de Lange phenotype
Authors: Lopez‐Rangel E. , Dill F. J. , Hrynchak M. A. , Van Allen M. I. 
Published: June 2005

AbstractPartial duplications of chromosome 3 have previously been reported to have phenotypic characteristics similar to Brachmann‐de Lange syndrome (BDLS). We present the case of a 13‐Year‐old girl with an apparent duplication in the 3q25.1→q26.1 region but none of the manifestations commonly seen in BDLS. The chromosome 3 duplication was confirmed with a FISH painting probe of the involved region. These results suggest that the region critical for Brachmann‐de Lange syndrome is not within the duplicated region of 3q25.1→q26.1. © 1993 Wiley‐Liss, Inc.
Asymmetric and symmetric long bone bowing in two sibs: An apparently new bone dysplasia
Authors: Moore Laura A. , Moore Cynthia A. , Smith John A. , Weaver David D. 
Published: June 2005

AbstractWe describe 2 sibs, one with congenital asymmetric long bone bowing and one with congenital symmetric long bone bowing. Other bony abnormalities in these sibs include beaten metal appearance of the skull, dolichomacrocephaly, ocular hypertelorism, and anterior beaking and bone‐within‐bone appearance of vertebrae. A differential diagnosis including campomelic dysplasia, kyphomelic dysplasia, hypophosphatasia, Grant syndrome, and osteogenesis imperfecta, and a discussion of potential mechanisms of long bone bowing are presented. The condition that these sibs have shares some characteristics of the above bone disorders, but appears to be a separate entity which to our knowledge has not been described previously. © 1993 Wiley‐Liss, Inc.
Report on two patients with Costello syndrome and sialuria
Authors: Rocco Maja Di , Gatti Rosanna , Gandullia Paolo , Barabino Arrigo , Picco Paolo , Borrone Carla 
Published: June 2005

AbstractWe report on 2 unrelated patients with Costello syndrome. The first is a 5‐year‐old girl with “coarse” face, nasal papillomata, redundant skin of feet and hands, hyperextensible hand and finger joints, curly hair, feeding problems due to oral motor apraxia, growth and psychomotor retardation. The second is a 3‐year‐old boy with “coarse” face, loose skin on hands and feet, curly hair, oral motor apraxia, severe growth and psychomotor retardation. In both patients urine sialic acid levels were found to be repeatedly high. The meaning of this biochemical abnormality is discussed. © 1993 Wiley‐Liss, Inc.
Characterization of a small supernumerary ring X chromosome by fluorescence in situ hybridization
Authors: Duncan Alessandra M. V. , Macdonald Athen , Brown Carolyn J. , Wolff Daynna , Willard Huntington F. , Sutton Bernice 
Published: June 2005

AbstractWe report on a male with mild learning disabilities who has a supernumerary marker chromosome. The marker chromosome was defined by fluorescence in situ hybridization as a ring X chromosome with breakpoints in the juxacentromeric region. Replication studies suggest that the ring X is late‐replicating. However XIST, a gene in the X inactivation centre interval which is expressed exclusively from the inactive X chromosome, is not present on the marker, nor is it expressed in the patient's cells. These results are discussed with respect to karyotype‐phenotype correlations and X inactivation. © 1993 Wiley‐Liss, Inc.
Holoprosencephaly and primary craniosynostosis: The Genoa syndrome
Authors: Camera Gianni , Lituania Mario , Cohen M. Michael 
Published: June 2005

AbstractWe report on 2 sibs with holoprosencephaly of the semilobar type, unusual facial appearance not diagnostic of holoprosencephaly, and primary craniosynostosis involving the coronal and lambdoid sutures. The condition represents a newly recognized syndrome, possibly having autosomal recessive inheritance. © 1993 Wiley‐Liss, Inc.
Significance of mosaic isochromosome 20q on amniocentesis
Authors: Donnenfeld Alan E. , Kershner Melessa A. 
Published: June 2005

AbstractWe report on 2 fetuses with prenatally diagnosed mosaic isochromosome 20q in amniotic fluid. Neither had an identifiable cytogenetic abnormality after birth. One infant developed a benign intracranial dermoid cyst at age 8 months. The other was completely normal in all respects. We are aware of 13 fetuses with this prenatally diagnosed chromosome finding; all fetuses tested have had normal chromosomes on subsequent cytogenetic studies and all, except one, have been morphologically normal. Fetuses with mosaic isochromosome 20q identified on amniocentesis are are most likely to be phenotypically and cytogenetically normal after birth. © 1993 Wiley‐Liss, Inc.
Inverted duplication of chromosome 5p14p15.3 confirmed with in situ hybridization
Authors: Zenhger‐Hain Julie L. , van Dyke Daniel L. , Wiktor Anne , Walker Hugh , Feldman Gerald L. 
Published: June 2005

AbstractDuplication of the short arm of chromosome 5 [dup(5)(p13.1p15.3)] has been associated with craniofacial malformations, cardiac defects, renal and intestinal malformations, limb abnormalities, and mental retaredation. We report a 2‐year‐old white girl with a denovo 46, XX, inv dup(5)(p14p15.3) chromosome constitution, who presented with motor and language delays, bilateral strabismus, small posteriorly angulated ears, a high‐arched palate, mild hypotonia, and an atrial septal defect. A CT scan of the head was normal. In situ hybridization with a cosmid probe specific for sub‐band 5p15.3 (Oncor, Inc., Gaithersburg, MD) was used to identify the origin and orientation of the extra material. The milder manifestations in our patient are consistent with the hypothesis that significant phenotypic effects are associated with duplication of material proximal to band 5p14. This study demonstrates the usefulness of in situ probes in identifying the origin and orientation of duplicated genetic material. © 1993 Wiley‐Liss, Inc.
Agenesis of the corpus callosum with mental retardation and osseous lesions
Authors: Kozlowski Dr K. , Ouvrier R. A. 
Published: June 2005

AbstractWe report on a patient with agenesis of corpus callosum, mental retardation, and unusual hitherto undescribed bone changes. The latter include multiple Wormian bones, thin ribs, short, straight, laterally tapering clavicles, small iliac bodies, high iliac angles, triangular areas of sclerosis in the iliac bones, minimal metaphyseal irregularity, striated trabecular pattern in some metaphyses, granular ossification pattern of the patellae, hypoplastic distal phalanges, minimal flatness of phalangeal epiphyses, and retarded bone age. This patient represents a new mental retardation syndrome with agenesis of corpus callosum and unusual bone changes. © 1993 Wiley‐Liss, Inc.
Do genes influence exposure to trauma? A twin study of combat
Authors: Lyons Michael J. , Goldberg Jack , Eisen Seth A. , True William , Tsuang Ming T. , Meyer Joanne M. , Henderson William G. 
Published: June 2005

AbstractData from 4,029 male‐male twin pairs who served in the United States military during the Vietnam era (1965–1975) were used to examine genetic and non‐genetic factors that influence wartime exposure to traumatic events. Specific events examined were volunteering for service in Vietnam, actual service in Southeast Asia, a composite index of 18 combat experiences, and information from military records about being awarded combat decorations. Correlations within monozygotic (MZ) and dizygotic (DZ) twin pairs for volunteering for service in Vietnam were 0.40 and 0.22, respectively. For actually serving in Southeast Asia, the MZ correlation was 0.41 and the DZ correlation was 0.24. Analysis of twin pairs in which both siblings served in Southeast Asia (n = 820) demonstrated a correlation for self‐reported combat experiences within MZ and DZ pairs of 0.53 and 0.30, respectively. Heritability estimates ranged from 35 to 47%. The family environment did not have a significant effect on any of the variables. Analyses of data from military records regarding being awarded a combat decoration provided very similar results to those found for self‐reported combat experiences. © 1993 Wiley‐Liss, Inc.
What is associated with the fragile X syndrome?
Authors: Fisch Gene S. 
Published: June 2005

AbstractIn addition to mental retardation (MR), fragile X [fra(X)] syndrome has been associated with a variety of other disorders. Despite earlier reports, it has been shown that MR fra(X) males are at no greater risk for autism than is any MR male. Therefore, studies in which fra(X) has been associated with behavioral, developmental, and psychopathological disabilities were examined to determine whether fra(X) individuals were at an increased risk for these dysfunctions as well. Psychiatric disorders among fra(X) individuals were found not to occur more frequently than in other individuals with cognitive deficits. It was also observed that hyperactivity and attention deficit disorder among MR fra(X) individuals do not occur more frequently than in other MR individuals. Pooled results from studies of cognitive profiles used to characterize fra(X) phenotypes also indicated that there are no consistent patterns in either males or females. Plausible explanations for a variable phenotype include allelic heterogeneity and pleitropy. © 1993 Wiley‐Liss, Inc.
Duchenne/becker muscular dystrophy carrier detection using quantitative PCR and fluorescence‐based strategies
Authors: Mansfield Elaine S. , Robertson James M. , Lebo Roger V. , Lucero Micheal Y. , Mayrand P. Eric , Rappaport Eric , Parrella Teresa , Sartore Maria , Surrey Saul , Fortina Paolo 
Published: June 2005

AbstractDystrophin gene deletions account for up to 68% of all Duchenne (DMD) and Becker (BMD) muscular dystrophy mutations. In affected males, these deletions can be detected easily using multiplex PCR tests which monitor for exon presence. In addition, quantitative dosage screening can discriminate female carriers. We previously analyzed multiplex PCR products by gel electrophoresis and quantitation of fluorescently labeled primers with the Gene Scanner™ in order to test carrier status. These multiplex PCR protocols detect DMD gene deletions adequately, but require up to 18 pairs of fluorochrome‐labeled primers. We previously described two alternative fluorescent labeling strategies, each with approximately 1,000‐fold greater sensitivity than ethidium bromide staining, which can be used to quantify the products of multiplex PCR. The first method uses the DNA intercalating thiazole orange dye TOTO‐1 to stain PCR products after 20 cycles. In the second method, fluorescein‐12,2′‐dUTP is incorporated into products during PCR as a fluorescent tag for subsequent quantitative dosage studies. Both methods label all multiplexed exons including the 506 bp exon 48 fragment that is difficult to detect and quantify by standard ethidium bromide staining. Using this approach, we determined DMD/BMD carrier status in 24 unrelated families using a fluorescent fragment analyzer. Analysis of fluorochrome‐labeled PCR products facilitates quantitative multiplex PCR for gene‐dosage analysis. © 1993 Wiley‐Liss, Inc.
Sclerocornea, hypertelorism, syndactyly, and ambiguous genitalia
Authors: Martínez‐Frías M. L. , Bermejo E. , Otero T. Sánchez , Urioste M. , Morena V. , Cruz E. 
Published: June 2005

AbstractWe present a child with an MCA pattern of sclerocornea, hypertelorism, pterygium colli, upper limb syndactyly, ambiguous genitalia, abnormal ears and nose, umbilical hernia, congenital heart disease, and normal chromosomes (46,XX). Although the defects observed in this case follow the diagnostic criteria for Fraser syndrome proposed by Thomas et al. [1986: Am J Med Genet 25:85–98], we think that this is a different entity. © 1994 Wiley‐Liss, Inc.
Gypsy phenylketonuria: A point mutation of the phenylalanine hydroxylase gene in Gypsy families from Slovakia
Authors: Kalanin Jan , Takarada Yutaka , Kagawa Shohei , Yamashita Keiko , Ohtsuka Norimitsu , Matsuoka Akira 
Published: June 2005

AbstractA direct mutational analysis of the phenylala nine hydroxylase gene (PAH) in Gypsy families with phenylketonuria (PKU) has not yet been presented. However, they obviously represent a group at high risk for this inherited disease. We analyzed the PAH loci of 65 Gypsies originating from Eastern Slovakia by a combination of PCR amplification, direct sequencing and ASO hybridization. These studies uncovered 10 “classical PKU” patients to be homozygous for a R252W (CGG‐TGG) transition, and 29 heterozygous carriers of this mutation. Fifteen control Caucasoid PKU patients from the Czech and Slovak Republics were selected. In this group we detected R252W mutation in two subjects (6.67% of all mutant alleles). Both were compound heterozygous for two different mutations. Previous haplotype studies of Welsh Gypsies with PKU were uniformative in the determination of heterozygosity. ASO hybridization served us effectively for the consequent analyses in Gypsy PKU‐related families and to identify the carriers among the unrelated subjects. © 1994 Wiley‐Liss, Inc.
Short stature in a patient with Klinefelter syndrome and growth hormone deficiency
Authors: Rossodivita A. , Colabucci F. 
Published: June 2005

AbstractWe report on a child with Klinefelter syndrome and short stature due to idiopathic growth hormone deficiency (IGHD). His height was below the mid‐parental height, with a significant delay in bone age. Height velocity increased from 4.5 to 8.2 cm/year during 1 year of GH therapy and typical catch‐up growth was observed. No adverse reactions to the treatment were observed. We wish to emphasize the rare association between Klinefelter syndrome and IGHD and the apparent effectiveness and safety of recombinant somatotropin treatment in aneuploid patients. © 1994 Wiley‐Liss, Inc.
Deletion (11)(q14.1q21)
Authors: Stratton Robert F. , Lazarus Kenneth H. , Ritchie Elizabeth J. L. , Bell Ann Marie 
Published: June 2005

AbstractWe report on a 4‐year‐old girl with moderate developmental delay, horseshoe kidney, bilateral duplication of the ureters with right upper pole obstruction, hydronephrosis and nonfunction, and subsequent Wilms tumor of the right lower pole. She had an interstitial delection of the long arm of chromosome 11 involving the region 11(q14.1q21). © 1994 Wiley‐Liss, Inc.