bluuebunny/crossref_metadata_2025_split huggingface dataset:
Constitutional translocation t(4;22) (q12;q12.2) associated with neurofibromatosis type 2
Authors: Arai Eiko , Ikeuchi Tatsuro , Karasawa Shinji , Tamura Akira , Yamamoto Kohtaro , Kida Mitsushiro , Ichimura Koichi , Yuasa Yasuhito , Tonomura Akira 
Published: June 2005

AbstractWe report on a female patient with bilateral acoustic neurinomas and other tumors in the central nervous system (neurofibromatosis type 2: NF2) and the constitutional translocation, t(4;22) (q12;q12.2). The precise identification of the translocation breakpoint (q12.2) on chromosome 22 implies the refined localization of a gene responsible for NF2, and would provide a clue to its molecular characterization and to the isolation of the gene. Chromosomes of a paraspinal neurinoma from the patient were also analyzed, and the same karyotype as seen in cultured peripheral lymphocytes was found. The patient's father was also a carrier of the translocation, but he had no clinical symptoms of NF2, nor did other relatives. Several explanations are offered for the different expression of the translocation between the patient and her father. © 1992 Wiley‐Liss, Inc.
Twin studies in familial mediterranean fever
Authors: Shohat M. , Livneh A. , Zemer D. , Pras M. , Sohar E. 
Published: June 2005

AbstractFamilial Mediterranean fever (FMF) is a genetic disease characterized by recurrent short episodes of fever, accompanied by peritonitis, pleuritis, or arthritis. The disease is almost completely ethnically restricted to patients of Mediterranean descent—Sephardic Jews, Armenians, Anatolian Turks, and Arabs. Although many family studies have been performed, no twin study has been reported as yet. We studied 21 di‐ and monozygotic twin sets, identified among the 1,943 FMF patients in our registry. Full concordance was observed in all the 10 monozygotic twin sets. In the 11 dizygotic twins, concordance for FMF disease was found in only 3 pairs. Variability in the clinical manifestations and degree of severity have been noted within twins. These findings provide definitive evidence for the genetic cause of FMF. They also support the single gene autosomal recessive model, and provide support for the contention that the lower observed than expected incidence found in FMF is due to genetically affected but clinically undiagnosed patients. © 1992 Wiley‐Liss, Inc.
Familial mediterranean fever: Analysis of inheritance and current linkage data
Authors: Shohat Mordechai , Danon Yehuda L. , Rotter Jerome I. 
Published: June 2005

AbstractFamilial Mediterranean fever (FMF) is a genetic disorder characterized by recurrent attacks of fever and inflammation of serosal surfaces. Unlike many mendelian disorders, the mode of transmission has been subject to some controversy as segregation analysis studies have always demonstrated fewer “observed” than “expected” affected individuals. Despite efforts to map the gene causing FMF, no definite linkage has been yet identified. This review analyses the epidemiologic and genetic characteristics in order to evaluate critically the inheritance of the disease and provide a perspective on the current biochemical and molecular genetic studies whose aim is to locate the gene for this disease. © 1992 Wiley‐Liss, Inc.
Natural history of mosaic trisomy 14 syndrome
Authors: Fujimoto Atsuko , Allanson Judith , Crowe Carol A. , Lipson Mark H. , Johnson Virginia P. 
Published: June 2005

AbstractTrisomy 14 mosaicism produces a distinct phenotype. Among the 13 reported and 2 additional patients, the following findings were present in more than 90%: growth retardation (15/15), psychomotor retardation (10/10), broad nose (13/14), “dysplastic” and/or apparently low‐set ears (15/15), micrognathia (15/15), short neck (11/12), congenital heart disease (14/15), and micropenis and cryptorchidism (6/6). Other frequent findings were prominent forehead (12/14), hypertelorism (8/13), narrow palpebral fissure (7/9), large mouth (10/14), cleft or highly arched palate (10/14), body asymmetry (8/12), and abnormal skin pigmentation (6/10). Sex ratio was 6M:9F. Four patients died before age 4 months, while at least 2 patients survived through teens. One boy died at age 3 years following cardiac surgery. One girl with tetralogy of Fallot showed a remarkable improvement in health after Blalock–Taussig procedure. Although the surviving patients showed moderate growth and mental retardation, the oldest surviving woman at 29 years demonstrates functional language and appropriate self help skills. © 1992 Wiley‐Liss, Inc.
Hypoplasia of the corpus callosum and growth hormone deficiency in the XXXXY syndrome
Authors: Haeusler Gabriele , Frisch H. , Guchev Z. , Hadziselimovic F. , Neuhold A. , Vormittag W. 
Published: June 2005

AbstractA 3‐year‐old Libyan boy with the XXXXY syndrome is described. MRI examination of the brain showed hypoplasia of the corpus callosum. He had growth retardation and endocrine studies demonstrated growth hormone (GH) deficiency. Dermatoglyphic pattern was different from previous reports. At histological examination of the undescended testes, Leydig cells were seen although they are usually not found in this variant of the Klinefelter syndrome. © 1992 Wiley‐Liss, Inc.
Child with manifestations of dermotrichic syndrome and ichthyosis follicularis‐alopecia‐photophobia (IFAP) syndrome
Authors: Martino F. , D'Eufemia P. , Pergola M. S. , Finocchiaro R. , Celli M. , Giampà G. , Frontali M. , Giardini O. 
Published: June 2005

AbstractWe report on a boy with short stature, mental retardation, seizures, follicular ichthyosis, generalized alopecia, hypohydrosis, enamel dysplasia, photophobia, congenital aganglionic megacolon, inguinal hernia, vertebral, renal and other anomalies, and a normal chromosome constitution. The clinical findings include all the features that dermotrichic and ichthyosis follicularis‐alopecia‐photophobia (IFAP) syndrome have in common and in addition those that characterize IFAP syndrome (photophobia, recurrent respiratory infections, etc.), those that are present only in dermotrichic syndrome (nail anomalies, hypohydrosis, megacolon, vertebral defects, etc.) and additional ones (enamel dysplasia, renal anomalies, inguinal hernia, etc.). Two maternal uncles were referred as being affected by alopecia and ichthyosis suggesting X‐linked recessive transmission. Various hypotheses concerning the relationship between the 2 syndromes and the present case are discussed © 1992 Wiley‐Liss, Inc.
Amniotic band sequence: Streeter's hypothesis reexamined
Authors: Bamforth J. Stephen 
Published: June 2005

AbstractRecently published reports of 54 subjects with the amniotic band syndrome (ABS) were reviewed, paying particular attention to internal anomalies. Evidence from the internal anomalies suggests that in most cases reviewed, damage occurred in a definable time period, probably prior to 26 days postconception and before the establishment of effective embryonic circulation. Most defects are explicable in terms of interference with neuropore closure, malmigration of cephalic neural crest tissue, and damage to the mesonephros consistent with local interference of the graded expression of organizational genes resulting in a local defect in the organization of the embryo. © Wiley‐Liss, Inc.
Sling left pulmonary artery, bridging bronchus, and associated anomalies
Authors: Medina‐Escobedo Gilberto , Lopez‐Corella Eduardo 
Published: June 2005

AbstractSling left pulmonary artery (SLPA) is often associated with tracheobronchial abnormalities, including bridging bronchus (BB). We report on 3 patients with SLPA: One patient had a narrow trachea, absent right upper lobe and right main bronchus, and BB. The second patient had a long and narrow trachea, with normal segmentation of bronchial tree, abnormal cerebral gyri, and minor facial abnormalities. The third patient, with a normal trachea and main bronchi with BB, had imperforate anus, hemivertebrae, and atrial septal defect (VATER association). Patients with SLPA, those with BB, or those with both SLPA and BB as well as multiple congenital anomalies represent a spectrum of anomalies. © Wiley‐Liss, Inc.
Fluorescence in situ hybridization (FISH) of a whole‐arm translocation involving chromosomes 18 and 20 with α‐satellite DNA probes: Detection of a centromeric DNA break?
Authors: Cantú Eduardo S. , Khan Tasneem A. , Pai G. Shashidhar 
Published: June 2005

AbstractFluorescence in situ hybridization (FISH) with α‐satellite DNA probes was used to study whole‐arm chromosome translocation products in a family in which the propositus was shown to have a monosomy 18p/trisomy 20p imbalance. By this approach, we show that the chromosome 18 α‐satellite DNA block is split into 2 smaller units, whereas the chromosome 20 breakpoint is not included within the α‐satellite DNA region. We found no evidence to suggest that this split α‐satellite DNA region has reduced or impaired the function of the centromere or that it contributed to the phenotype of the propositus. The FISH technique critically demonstrated the involvement of a whole‐arm translocation in this case and provided accurate identification of breakpoints, which was not possible with standard banding techniques. © Wiley‐Liss, Inc.
Triply discordant triplets: Probability, management options, and risks
Authors: Pryde Peter G. , Isada Nelson B. , Johnson Mark P. , Grundy Howard , Evans Mark I. 
Published: June 2005

AbstractThe spontaneous occurrence of triplets is rare. With increased utilization of “assisted reproductive technologies,” multifetal gestations have become more common. The empiric fetal risk for major malformation is ∼ 3%. In a triplet pregnancy each fetus independently carries this risk so that the probability of having at least one malformed fetus is ∼ 9%. It is much less likely to have 2 or 3 simultaneously but discordantly malformed fetuses in a multizygotic triplet gestation (.09% and .0027% risk, respectively). We report on the first case, to our knowledge, of an ovulation‐stimulated triplet pregnancy complicated by 3‐way discordance for major malformations diagnosed in the late second trimester by ultrasound. Fetus A was affected by congenital diaphragmatic hernia and trisomy 21; fetus B had encephalocele, a midline facial defect, and a cleft palate; and fetus C had evidence of unilateral claw hand but an otherwise normal fetal survey. At 19 weeks of gestation, fetus A was found to have spontaneously died, and a selective termination of triplet B was performed. We conclude: (1) the finding of a single major malformation in one fetus should lead to extensive search for malformations in all members of the pregnancy, and (2) the simultaneous occurrence of major malformations in more than one member of a multifetal gestation is a circumstance under which multiple selective termination deserves consideration. In this article we discuss important issues and caveats in the performance of selective termination for abnormal members of multifetal gestations. © Wiley‐Liss, Inc.
Ectodermal dysplasia, lipoatrophy, diabetes mellitus, and amastia: A second case of the AREDYLD syndrome
Authors: Breslau‐Siderius E. J. , Toonstra J. , Baart J. A. , Koppeschaar H. P. F. , Maassen J. A. , Beemer F. A. 
Published: June 2005

AbstractA 19‐year‐old female with ectodermal dysplasia, lipoatrophy, diabetes mellitus, and amastia is described. This complex of symptoms is very similar to that of a case published by Pinheiro et al [1983] under the acronym of AREDYLD syndrome. © Wiley‐Liss, Inc.
Additional dystrophin fragment in Becker muscular dystrophy may result from proteolytic cleavage at deletion junctions
Authors: Beggs Alan H. , Hoffman Eric P. , Kunkel Louis M. 
Published: June 2005

AbstractBecker muscular dystrophy is usually caused by intragenic dystrophin gene deletions that result in production of an internally deleted protein. Previous studies have detected what appears to be a unique dystrophin degradation product that appears only in muscle biopsies from patients with Becker muscular dystrophy. This dystrophin fragment is always seen in addition to the “full‐size” dystrophin of the expected size for a given gene deletion. It is only found in biopsies from patients with mutations in the deletion‐prone region encompassing exons 45–53, but it does not appear to correlate with any observable phenotype at the clinical level. By correlating the size and locations of dystrophin gene deletions with the size of this degradation product, together with use of region‐specific dystrophin antisera, we find that proteolytic cleavage may occur at the deletion breakpoints, perhaps due to alterations of the secondary and/or tertiary structures of the protein. This cleavage results in loss of the carboxy‐terminal domains that are thought to be important for interactions between dystrophin and other membrane‐bound proteins. © Wiley‐Liss, Inc.
Uncultured blood smears hybridized with alpha satellite probes to diagnose 45,X in spontaneously aborted fetuses
Authors: von Kap‐herr C. , Kelly Thaddeus E. , Golden Wendy L. 
Published: June 2005

AbstractTraditional cytogenetic analysis of material from spontaneous abortions often fails due to non‐viability of the tissues in cell culture. The 45,X constitution is common in early pregnancy loss. Fluorescent in situ hybridization (FISH) was used to diagnose 45,X in uncultured blood smears obtained from 2 cases of spontaneous pregnancy loss with fetal hydrops. The ability of chromosome specific alpha satellite probes to detect aneuploidy in uncultured cells should greatly increase the successful detection of chromosomal abnormalities in early abortuses.
Study of the etiology of deafness in an institutionalized population in colombia
Authors: Tamayo Marta L. , Bernal Jaime E. , Tamayo Gustavo E. , Frias Jaime L. 
Published: June 2005

AbstractTo identify causative factors we screened 1,715 deaf individuals from 16 schools for the deaf in Colombia. We found evidence of environmental causation in 579 (33.8%) cases, genetic in 608 (35.4%), and in 528 (30.8%) we were unable to identify the etiology. The degree of hearing loss was severe to profound in 1,238 (72.2%), although in 987 (57.5%) of the deaf population studied the hearing impairment was not noticed until 2 to 5 years of age.The frequent association of deafness with other anomalies underscores the importance of a careful clinical and ophthalmologic evaluation in individuals with hearing loss. Our observations also emphasize the need for programs directed towards the prevention of hearing loss, including primary prevention as well as early diagnosis, investigation of possible genetic causes, and rehabilitation of deaf individuals.
Elevated second trimester maternal serum β‐HCG concentrations and subsequent adverse pregnancy outcome
Authors: Gravett Claudia P. , Buckmaster John G. , Watson Peter T. , Gravett Michael G. 
Published: June 2005

AbstractPrevious studies have found an association between elevated second trimester maternal serum α‐fetoprotein (MS‐AFP), in the absence of fetal anomalies, and adverse pregnancy outcome. We studied the association between elevated second trimester maternal serum β‐HCG, now also routinely measured by prenatal screening programs, and adverse pregnancy outcome by reviewing retrospectively the pregnancy outcomes among women with markedly elevated midtrimester β‐HCG in our prenatal screening program. Seven (0.23%) of 3,000 consecutively screened women had a serum β‐HCG above 5 MOM. Four (57%) of these 7 women had an adverse pregnancy outcome including severe preeclampsia (n = 2), abruptio placentae (n = 1), or preterm labor (n = 1). A concurrently elevated MS‐AFP was found in only one of these 4 patients. Elevated midtrimester maternal serum β‐HCG may be an independent risk factor for subsequent adverse pregnancy outcomes.
Deletion of the KIT and PDGFRA genes in a patient with piebaldism
Authors: Spritz Richard A. , Droetto Sara , Fukushima Yoshimitsu 
Published: June 2005

AbstractWe have previously shown that human piebaldism results from mutations of the KIT gene, which encodes the receptor for the mast/stem cell growth factor and is located in chromosome segment 4q12. Using DNA of a patient with piebaldism, mental retardation, and multiple congenital anomalies associated with a 46,XY,del(4) (q12q21.1) karyotype, we carried out quantitative Southern blot hybridization analyses of the KIT gene and the adjacent PDGFRA (platelet‐derived growth factor receptor α subunit) genes. The patient was hemizygous for both the KIT and PDGFRA genes, indicating that both of these genes are included within the deleted region. Therefore, deletion of the KIT and PDGFRA genes may account for the piebald phenotype in this patient.© Wiley‐Liss, Inc.
Hepatoerythropoietic porphyria in a woman with short stature and deformed hands
Authors: Fujimoto Atsuko , Brazil James L. 
Published: June 2005

AbstractA 23‐year‐old woman from Honduras was diagnosed to have hepatoerythropoietic porphyria. She had photosensitive skin of early onset, hypertrichosis, and severe scleroderma‐like lesions of the hands. Erythrocyte uropor‐phyrinogen decarboxylase activity was reduced to about 10% of the normal activity. © Wiley‐Liss, Inc.
Smallest terminal deletion of the long arm of chromosome 2 in a mildly affected boy
Authors: Lin Shuan‐Pei , Petty Elizabeth M. , Gibson Lisa H. , Inserra Joann , Seashore Margretta R. , Yang‐Feng Teresa L. 
Published: June 2005

AbstractWe describe a male twin with the smallest terminal deletion of chromosome 2q [46,XY,del(2)(q37.2)] reported to date. His deletion was confirmed by a fluorescence in situ hybridization study using a probe from the deleted region. Only 3 other cases with larger deletions including 2q37.2→qter have been reported. Clinical manifestations our patient has in common with them include frontal bossing, long eyelashes, micrognathia, infantile hypotonia and developmental delay. His twin brother is physically and developmentally normal and chromosomes of the parents were normal. The mildness of the phenotype in this patient supports less stringent criteria for cytogenetic study of developmentally impaired individuals. © Wiley‐Liss, Inc.
Parental sex effect in spina bifida: A role for genomic imprinting?
Authors: Chatkupt Sansnee , Lucek Paul R. , Koenigsberger M. Richard , Johnson William G. 
Published: June 2005

AbstractFifty families (491 individuals in 137 sibships) with more than one living case of isolated, nonsyndromic spina bifida (SB) were analyzed genetically. There were twice as many gene‐carrier females (56) as gene‐carrier males (28) (P < 0.005). This was not an artifact of ascertainment bias because the sex ratio of gene‐carriers was the same whether the pedigree was obtained through the proband's father or mother. Also, this effect was not observed in other disorders analyzed by the same method. Neither was the effect due to differential fertility because the number and sex of affected and unaffected children per gene‐carrier parent were not different for male or female gene‐carrier parents. There was no evidence that the missing male gene‐carriers were lost by selective spontaneous abortion. There was no deficit of male‐to‐male or male‐to‐female transmission, excluding simple X‐linked or simple mitochondrial inheritance. If genomic imprinting plays a role in the unequal female and male carrier frequencies in SB, penetrance should differ with parental sex. Penetrance was higher for off‐spring of female parents than of male parents, but the difference was not statistically significant. In addition, both male and female gene‐carriers were frequently found in the same pedigree. Thus, the present data suggest a possible role for imprinting in SB. © Wiley‐Liss, Inc.
Autosomal recessive oral‐facial‐digital syndrome with resemblance to OFD types II, III, IV and VI: A new OFD syndrome?
Authors: Chitayat David , Stalker Heather J. , Azouz E. Michael 
Published: June 2005

AbstractWe report on a son and daughter of Ashkenazi‐Jewish parents with postaxial polydactyly of the hands and feet associated with syndactyly and brachydactyly, mental retardation, cerebellar hypoplasia, pectus excavatum, mesomelic shortness of the upper and lower limbs, and pretibial dimples. Although this appears to be an example of one of the OFD syndromes and has many similarities to OFD type II,III,IV and VI, it does not fit satisfactorily into any of the types previously described. Thus this may be a new OFD syndrome, although we cannot exclude a possibility that most or all autosomal recessive OFD syndromes are the result of pleiotropy of a single mutation in a homozygous state. © 1992 Wiley‐Liss, Inc.
Predictions of a 2‐locus model for disease heterogeneity: Application to adrenoleukodystrophy
Authors: Maestri N. E. , Beaty T. H. 
Published: June 2005

AbstractAdrenoleukodystrophy (ALD) is an X‐linked disorder that exhibits a wide range of phenotypic variability within individuals in a single family carrying the mutant allele. A 2‐locus epistatic model has been proposed to explain the inheritance of the severe childhood form of ALD and the milder adult‐onset adrenomyloneuropathy (AMN). Under a dominant epistatic model, a single M allele at an autosomal modifier locus ameliorates the most severe effects of the disease allele leading to the milder AMN phenotype; only males with genotype mm would have ALD. Under a recessive epistatic model, 2 copies of the M allele would be necessary to have the milder AMN phenotype. Here, we show that recurrence risks for a second affected male depend on the frequency of the protective allele at this modifier locus. Whereas it is most likely that 2 affected brothers will be concordant for their disease phenotypes, discordant pairs of affected brothers are possible at all frequencies of M. Within a narrow range of modifier allele frequencies, the predicted distribution of affected sib pairs (over all families) is consistent with empiric data from a large clinic population. Here we suggest sampling discordant affected sib pairs as a strategy for detecting linkage between a polymorphic DNA marker and a possible modifier gene. Since both epistatic models predict that discordant affected pairs should not share 2 alleles at the modifier locus, we expect that departures from the null distribution could be detected with relatively small numbers of sib pairs. © 1992 Wiley‐Liss, Inc.
Familial omphalocele: Considerations in genetic counseling
Authors: Pryde Peter G. , Greb Anne , Isada Nelson B. , Johnson Mark B. , Klein Michael , Evans Mark I. 
Published: June 2005

AbstractNonsyndromal omphalocele is generally regarded as a sporadic malformation. Recurrence risk is considered negligible. We report on a patient in whom 5 consecutive pregnancies (by 2 separate nonconsanguineous partners) were complicated by omphalocele as an isolated defect. Neither the patient nor her partners had history of relatives with omphalocele, although the patient's brother and his son had large umbilical hernias requiring repair in infancy. Some familial cases of nonsyndromal omphalocele have been previously reported; most such pedigrees suggest vertical transmission, although there are a few cases with only a single generation involved. In Our case, the multigenerational finding of ventral wall hernias makes an autosomal dominant mechanism with variable expressivity a tenable explanation. The collected instances of familial nonsyndromal omphalocele emphasize omphalocele heterogeneity and caution in counseling recurrence risks. © 1992 Wiley‐Liss, Inc.
Pseudo‐trisomy 13 syndrome with upper limb shortness and radial hypoplasia
Authors: Boles Richard G. , Teebi Ahmad S. , Neilson Kathryn A. , Meyn M. Stephen 
Published: June 2005

AbstractWe report on a fetus with holoprosencephaly, postaxial polydactyly, multiple visceral anomalies, upper limb shortness, and radial hypoplasia with normal chromosomes. We provide a brief review of the newly delineated “pseudo‐trisomy 13 syndrome.” Severe limb shortness of radial hypoplasia has not been described previously in this syndrome. The present case may expand the spectrum of the pseudo‐trisomy 13 syndrome, or may represent a distinct entity. © 1992 Wiley‐Liss, Inc.