bluuebunny/crossref_metadata_2025_split huggingface dataset:
Renal anomalies in Marden‐Walker syndrome: A clue for prenatal diagnosis
Authors: Ben‐Neriah Ziva , Yagel Simcha , Ariel Ilana 
Published: June 2005

AbstractMarden‐Walker syndrome is an autosomal‐recessive disorder characterized by psy‐chomotor retardation, blepharophimosis, joint contractures, arachnodactyly, failure to thrive, and, infrequently, renal anomalies. We report on the prenatal diagnosis of Marden‐Walker syndrome in a fetus which had had a previously affected sib with this syndrome. The ultrasonic findings indicative of the diagnosis in this fetus were in‐trauterine growth retardation and renal cystic disease. We emphasize the importance of renal anomalies which, when present in combination with other ultrasound evidence of this syndrome, should be used as a clue for the diagnosis of Marden‐Walker syndrome. © 1995 Wiley‐Liss, Inc.
Velo‐cardio‐facial syndrome: Frequency and extent of 22q1l deletions
Authors: Lindsay Elizabeth A. , Goldberg Rosalie , Jurecic Vesna , Morrow Bernice , Carlson Christine , Kucherlapati Raju S. , Shprintzen Robert J. , Baldini Antonio 
Published: June 2005

AbstractVelo‐cardio‐facial. (VCFS) or Shprintzen syndrome is associated with deletions in a region of chromosome 22q11.2 also deleted in DiGeorge anomaly and some forms of congenital heart disease. Due to the variability of phonotype, the evaluation of the incidence of deletions has been hampered by uncertainty of diagnosis. In this study, 54 patients were diagnosed with VCFS by a single group of clinicians using homogeneous clinical criteria independent of the deletion status. Cell lines of these patients were established and the deletion status evaluated for three loci within the commonly deleted region at 22q11.2 using fluorescence in situ hybridization (FISH). In 81% of the patients all three loci were hemizygous. In one patient we observed a smaller interstitial deletion than that defined by the three loci. The phenotype of this patient was not different from that observed in patients with larger deletions. © 1995 Wiley‐Liss, Inc.
Interstitial duplication 19p
Authors: Stratton Robert F. , Dupont Barbara R. , Olsen Anne S. , Fertitta Anne , Hoyer Mark , Moore Charleen M. 
Published: June 2005

AbstractWe report on a 9‐month‐old girl with an interstitial duplication of 19p, developmental delay, and multiple anomalies including bifrontal prominence, obtuse frontonasal angle, short columella, additional midline philtral pillar, midline ridge on the tongue, vertical midline ridge at the mental symphysis, and a complex congenital heart defect including severe branch pulmonary artery stenosis, secundum atrial septal defect (ASD), and several ventricular septal defects (VSDs). Use of fluorescent in situ hybridization (FISH) with chromosome 19‐specific probes showed a direct duplication of bands 19p13.13 and 19p13.2. © 1995 Wiley‐Liss, Inc.
Patient with craniosynostosis and marfanoid phenotype (Shprintzen‐goldberg syndrome) and cloverleaf skull
Authors: Saal Howard M. , Bulas Dorothy I. , Allen Jill Fonda , Vezina L. Gilbert , Walton Dawn , Rosenbaum Kenneth N. 
Published: June 2005

AbstractMarfanoid phenotype with craniosynostosis (Shprintzen‐Goldberg syndrome) is a rare disorder previously described in only 5 patients. We report on the sixth known patient with this condition. The findings which distinguish our patient from others reported previously are that she was ascertained prenatally as having a cloverleaf skull; this is the first female patient described with this condition. Postnatally, she presented with arachnodactyly, camptodactyly and cloverleaf skull. Imaging studies of the brain documented microcephaly with malformed brain, hydrocephaly, and hypoplasia of the corpus callosum. She also had choanal atresia and stenosis, a clinical finding previously reported only once, in this disorder. © 1995 Wiley‐Liss, Inc.
Interstitial deletions of the short arm of chromosome 4 in patients with a similar combination of multiple minor anomalies and mental retardation
Authors: White Donna M. , Pillers De‐Ann M. , Reiss Jacob A. , Brown Michael G. , Magenis R. Ellen 
Published: June 2005

AbstractInterstitial deletions of chromosome 4 have been described rarely and have had variable presentations. We describe the phenotypic characteristics associated with interstitial deletion of the p14–16 region of chromosome 4 in 7 patients with multiple minor anomalies in common, and with mental retardation. A review of published cases of interstitial deletions of the short arm of chromosome 4 is provided. These deletions present a distinct phenotype which is different from that of Wolf‐Hirschhorn syndrome. © 1995 Wiley‐Liss, Inc.
Autosomal dominant osteosclerosis type stanescu: The third family
Authors: Horovitz Dafne Dain Gandelman , Neto João Goncalves Barbosa , Boy Raquel , Vargas Fernando Regla , Llerena Juan Clinton , de Almeida José Carlos Cabral 
Published: June 2005

AbstractWe describe a family with Stanescu osteosclerosis. The propositus and his mother were short and had cortical sclerosis of the long bones, deficient facial sinus development, cranial bone malformations, and normal intelligence. To the best of our knowledge, only two such families have been described previously. The autosomal dominant pattern of inheritance of this skeletal dysplasia is reinforced, as there are many other reportedly affected relatives, including the maternal grandfather, uncles, and aunts of the propositus. The findings of wormian bones and calcification of the falx, not previously described, may be added to the phenotype. © 1995 Wiley‐Liss, Inc.
CHARGE association in a child with de novo inverted duplication (14)(q22 → q24.3)
Authors: North Kathryn N. , Wu Bai Lin , Cao Benning N. , Whiteman David A. H. , Korf Bruce R. 
Published: June 2005

AbstractWe report on a 4‐1/2 year old girl with apparent CHARGE association who had a de novo inverted duplication (14)(q22 → 24.3), iris colobomas, ventricular septal defect, soft tissue choanal atresia, intellectual impairment, growth retardation, sensorineural deafness, apparently low set ears, and upslanting palpebral fissures. Family history was unremarkable and parental chromosomes were normal. Similarities between this and previously reported cases of 14q duplication suggest that a locus for a gene or genes causing some of the anomalies of CHARGE association may reside in the region 14q22 to 24.3. © 1995 Wiley‐Liss, Inc.
Rapid molecular cytogenetic analysis of X‐chromosomal microdeletions: Fluorescence in situ hybridization (FISH) for complex glycerol kinase deficiency
Authors: Worley K. C. , Lindsay E. A. , Bailey W. , Wise J. , McCabe E. R. B. , Baldini A. 
Published: June 2005

AbstractDiagnosis of X‐chromosomal microdeletions has relied upon the traditional methods of Southern blotting and DNA amplification, with carrier identification requiring timeconsuming and unreliable dosage calculations. In this report, we describe rapid molecular cytogenetic identification of deleted DNA in affected males with the Xp21 contiguous gene syndrome (complex glycerol kinase deficiency, CGKD) and female carriers for this disorder.CGKD deletions involve the genes for glycerol kinase, Duchenne muscular dystrophy, and/or adrenal hypoplasia congenita. We report an improved method for diagnosis of deletions in individuals with CGKD and for identification of female carriers within their families, using fluorescence in situ hybridization (FISH) with a cosmid marker (cosmid 35) within the glycerol kinase gene. When used in combination with an Xq control probe, affected males demonstrate a single signal from the control probe, while female carriers demonstrate a normal chromosome with two signals, as well as a deleted chromosome with a single signal from the control probe. FISH analysis for CGKD provides the advantages of speed and accuracy for evaluation of submicroscopic X‐chromosomal deletions, particularly in identification of female carriers. In addition to improving carrier evaluation, FISH will make prenatal diagnosis of CGKD more readily available. © 1995 Wiley‐Liss, Inc.
Removing the shadow of the law from the debate about genetic testing of children
Authors: Clayton Ellen Wright 
Published: June 2005

AbstractWhen physicians view efforts to obtain genetic testing for children as unwise or contrary to the children's interests, they face difficult problems both of ethics and of communicating with the parents. Contrary to the suggestions of some, the law has little to say about how physicians resolve these dilemmas. Parents do not have a constitutionally protected right to demand that unwilling physicians perform these tests. In addition, there is little risk of liability for damages unless the child suffers physical harm as a result of the physician's refusal to do the test. The debate about genetic testing of children needs to take place with a clear understanding of the law's limited impact. © 1995 Wiley‐Liss, Inc.
Neuroblastoma in a boy with MCA/MR syndrome, deletion 11q, and duplication 12q
Authors: Koiffmann Célia P. , Gonzalez Claudette H. , Vianna‐Morgante Angela M. , Kim Chong A. , Odone‐Filho Vicente , Wajntal Anita 
Published: June 2005

AbstractDeletion 11q23→qter and duplication 12q23→qter are described in a boy with neuroblastoma, multiple congenital anomalies, and mental retardation. The patient has clinical manifestations of 11q deletion and 12q duplication syndromes. The possible involvement of the segment 11q23→24 in the cause of the neuroblastoma is discussed. © 1995 Wiley‐Liss, Inc.
Are we all of one mind? Clinicians' and patients' opinions regarding the development of a service protocol for predictive testing for Huntington disease
Authors: Copley Tobin T. , Wiggins Sandi , Dufrasne Suzanne , Bloch Maurice , Adam Shelin , McKellin William , Hayden Michael R. 
Published: June 2005

AbstractThere are currently different research programs in place to assess the effects of predictive testing for a few late‐onset disorders, including Huntington disease (HD) and familial cancers. Prior to providing predictive testing as a service, we sought the views of both the patients and the clinicians as to the importance and value of different items in a research protocol for HD. We mailed questionnaires to 41 clinicians and 351 at‐risk patients who had participated in the research protocol, to solicit their opinions on the relative importance of various components of the HD predictive testing research protocol. Completed questionnaires were received from 256 patients (73%) and 33 clinicians (80%). Most participants (96%) were satisfied with the program, and <3% of persons receiving a modification of risk felt that predictive testing had impaired their quality of life. While there was consensus on the importance of most components of the protocol, significantly more clinicians than patients (97% vs. 72%; P =0.02) felt it was essential to keep written material about HD as part of a service protocol. More patients than clinicians (83% vs. 27%) considered it essential to have 24‐hr contact numbers following disclosure of test results (P < 0.0001). Patients also felt more strongly about the importance of counseling about technical aspects of predictive testing (84% vs. 77%; P < 0.02), and about having a support person attend counselling sessions with the patient (62% vs. 48%; P = 0.04). Nearly 25% of participants indicated that they would not want their general practioner routinely involved in the predictive testing program. These findings have influenced the development of our service protocol, and they underscore the importance of involving both providers and consumers of predictive testing in the development of a service protocol for genetic testing. © 1995 Wiley‐Liss, Inc.
Pelizaeus‐Merzbacher disease caused by a de novo mutation that originated in exon 2 of the maternal great‐grandfather of the propositus
Authors: Pratt Victoria M. , Boyadjiev Simon , Green Kathryn , Hodes M. E. , Dlouhy Stephen R. 
Published: June 2005

AbstractPelizaeus‐Merzbacher disease (PMD) is an X‐linked dysmyelinating disorder of the central nervous system. Many cases of PMD can be attributed to defects in the proteolipid protein gene (PLP). To date, with one exception, each family has had either no or a unique mutation in one of the seven exons of PLP. We describe a new missense mutation in exon 2 of the PLP gene of an affected individual. This mutation codes for Ile instead of Thr at codon 42. The point mutation originated in the X chromosome of the maternal great‐grandfather of the propositus. This was determined from the pattern of inheritance of the AhaII polymorphism and a series of microsatellite markers that are localized near PLP at Xq22. © 1995 Wiley‐Liss, Inc.
Trisomy 1q42→qter in a sister and brother: Further delineation of the “trisomy 1q42→qter Syndrome”
Authors: Verschuuren‐Bemelmans Corien C. , Leegte Beike , Hodenius Thea M. J. , Cobben Jan M. 
Published: June 2005

AbstractWe report on a 22‐year‐old woman and her 21‐year‐old brother with mild mental retardation, long face, prominent forehead, retrognathia, and (relative) macrocephaly. At birth they were small for date, their length is now below the 10th centile. Chromosome analysis demonstrated a nearly pure trisomy 1q42→qter in both patients due to unbalanced segregation of a paternal reciprocal balanced translocation 46,XY,t(1;15) (q42;p11). This is the second report of a nearly pure trisomy 1q42→qter.When comparing the manifestations of our patients with those of other reported cases we conclude that the most characteristic clinical manifestations of this syndrome are macrocephaly, prominent forehead, micro/retrognathia, large fontanelle, intrauterine growth retardation, postnatal growth retardation, and mental retardation. © 1995 Wiley‐Liss, Inc.
Monozygotic twins discordant for the russell‐silver syndrome
Authors: Bailey Wendy , Popovich Bradley , Jones Kenneth Lee 
Published: June 2005

AbstractRussell‐Silver syndrome (RSS) is a pattern of malformation characterized by intrauterine and postnatal growth retardation, limb asymmetry, triangular face, and hypospadias. We report on a patient, from a triplet pregnancy, who was one of identical male twins discordant for RSS. R.B. was a 710‐g male born at 33 weeks of gestation, with hypospadias, chordee, and undescended testes. He had a normal 46,XY karyotype and no renal abnormalities. Female triplet A weighed 1,843 g, and male triplet B weighed 1,920 g. Both had normal physical findings and neonatal period. R.B. was first seen by us at age 6 7/12 years with short stature, triangular and asymmetric face, lower limb length discrepancy, and surgically repaired genital anomalies. Growth hormone testing results were normal. At age 8 7/12 years the brothers appeared physically identical except for size, with a height differential of 114.25 vs. 121.5 cm. Testing to establish biological zygosity was performed using VNTR (variable number tandem repeat) DNA probes YNH24 (D2S44), CMM101 (D14S13), EFD52 (D17S26), TBQ7 (D10S28), and 3′HVR (D16S85), PCR loci MCT118 (D1S80), and HLA‐DQα. These data indicate a >99.99% probability of triplets B and C being monozygotic twins. While most occurrences of RSS are sporadic, familial cases suggesting autosomal dominance have been reported. Three other cases of probable monozygotic twins with RSS have been described. The significance of this confirmation of discordance in determining the cause of RSS is discussed. © 1995 Wiley‐Liss, Inc.
Alopecia/mental retardation syndrome
Authors: Hannig Vickie L. , Tiller George E. 
Published: June 2005

AbstractWe report on an African‐American patient with alopecia universalis, microcephaly, hypogonadism, and mental and growth retardation, and compare his phenotype to others with recessive alopecia/mental retardation syndromes in the literature. Our patient represents the first case reported from nonconsanguineous African‐American parents. © 1995 Wiley‐Liss, Inc.
Fibrillin abnormalities and prognosis in marfan syndrome and related disorders
Authors: Aoyama Takeshi , Francke Uta , Gasner Cheryll , Furthmayr Heinz 
Published: June 2005

AbstractMarfan syndrome (MFS), a multisystem autosomal‐dominant disorder, is characterized by mutations of the fibrillin‐1 (FBN1) gene and by abnormal patterns of synthesis, secretion, and matrix deposition of the fibrillin protein. To determine the sensitivity and specificity of fibrillin protein abnormalities in the diagnosis of MFS, we studied dermal fibroblasts from 57 patients with classical MFS, 15 with equivocal MFS, 8 with single‐organ manifestations, and 16 with other connective tissue disorders including homocystinuria and Ehlers‐Danlos syndrome. Abnormal fibrillin metabolism was identified in 70 samples that were classified into four different groups based on quantitation of fibrillin synthesis and matrix deposition. Significant correlations were found for phenotypic features including arachnodactyly, striae distensae, cardiovascular manifestations, and fibrillin groups II and IV, which included 70% of the MFS patients. In addition, these two groups were associated with shortened “event‐free” survival and more severe cardiovascular complications than groups I and III. The latter included most of the equivocal MFS/single manifestation patients with fibrillin abnormalities. Our results indicate that fibrillin defects at the protein level per se are not specific for MFS, but that the drastically reduced fibrillin deposition, caused by a dominant‐negative effect of abnormal fibrillin molecules in individuals defined as groups II and IV, is of prognostic and possibly diagnostic significance. © 1995 Wiley‐Liss, Inc.
Characterization of genetic deletions in becker muscular dystrophy using monoclonal antibodies against a deletion‐prone region of dystrophin
Authors: Thanh Le Thiet , Man Nguyen Thi , Hori S. , Sewry C. A. , Dubowitz V. , Morris G. E. 
Published: June 2005

AbstractWe have produced a new panel of 20 monoclonal antibodies (mAbs) against a region of the dystrophin protein corresponding to a deletion‐prone region of the Duchenne muscular dystrophy gene (exons 45–50). We show that immuno‐histochemistry or Western blotting with these “exon‐specific” mAbs can provide a valuable addition to Southern blotting or PCR methods for the accurate identification of genetic deletions in Becker muscular dystrophy patients. The antibodies were mapped to the following exons: exon 45 (2 mAbs), exon 46 (6), exon 47 (1), exons 47/48 (4), exons 48–50 (6), and exon 50 (1). PCR amplification of single exons or groups of exons was used both to produce specific dystrophin immunogens and to map the mAbs obtained. PCR‐mediated mutagenesis was also used to identify regions of dystrophin important for mAb binding. Because the mAbs can be used to characterize the dystrophin produced by individual muscle fibres, they will also be useful for studying “revertant” fibres in Duchenne muscle and for monitoring the results of myoblast therapy trials in MD patients with deletions in this region of the dystrophin gene. © 1995 Wiley‐Liss, Inc.
Omphalocele and gastroschisis in Europe: A survey of 3 million births 1980–1990
Authors: Calzolari E. , Bianchi F. , Dolk H. , Milan M. 
Published: June 2005

AbstractA total of 732 cases of omphalocele and 274 cases of gastroschisis was registered in 21 regional registers in Europe (EUROCAT registers) during the period 1980–1990. The total prevalence rates were 2.52 per 10,000 for omphalocele and 0.94 per 10,000 for gastroschisis. There was significant heterogeneity in total prevalence rates among regions for omphalocele. Consistently higher than average total prevalence rates of omphalocele were found in the five centers of the British Isles. This was in large part linked to the association between omphalocele and neural tube defects. A significant female excess among the cases of omphalocele associated with neural tube defects, in comparison with an insignificant male excess for other cases of omphalocele, was observed. Geographical differences in the total prevalence of gastroschisis are partly explained by differences in maternal age distributions in the populations surveyed. Omphalocele was an isolated malformation in 46% of cases; gastroschisis was isolated in 79% of cases. The average birthweight and gestational age of both isolated and multiply malformed cases of both omphalocele and gastroschisis were low, especially for multiply malformed cases, and to a greater extent for isolated gastroschisis than for isolated omphalocele. Prenatal diagnosis leading to termination of pregnancy was reported in 33.2% of omphalocele and in 26.5% of gastroschisis cases, demonstrating the considerable impact of current prenatal screening programs. On the basis of clinical manifestations, epidemiologic characteristics, and the presence and type of additional malformations, omphalocele and gastroschisis can be considered heterogeneous conditions. © 1995 Wiley‐Liss, Inc.
Duchenne muscular dystrophy and idiopathic hyperCKemia segregating in a family
Authors: Frydman Moshe , Straussberg Rachel , Shomrat Ruth , Goebel Hans , Legum Cyril , Shiloh Yossi 
Published: June 2005

AbstractA 7‐month‐old boy with gross motor delay and failure to thrive presented with rhabdomyolysis following an acute asthmatic episode. During hospitalization an electrocardiographic conversion to a Wolff‐Parkinson‐White type 1 (WPW) pattern took place. Duchenne muscular dystrophy (DMD) was suspected based on elevated creatine kinase (CK) serum levels, muscle biopsy, and family history. The diagnosis was confirmed by molecular analysis, which documented a deletion corresponding to cDNA probe 1‐2a in the dystrophin gene, in the propositus and in an affected male cousin of his mother. “Idiopathic” hyperCKemia was found in the propositus, his father, and 5 of his relatives. We suggest that the unusually early and severe manifestations of DMD in this patient may be related to the coincidental inheritance of the maternal DMD gene and of a paternal gene, causing hyperCKemia. © 1995 Wiley‐Liss, Inc.
Hereditary spherocytic anemia with deletion of the short arm of chromosome 8
Authors: Okamoto Nobuhiko , Wada Yoshinao , Nakamura Yoich , Nakayama Masahiro , Chiyo Hideaki , Murayama Kikuno , Inoue Takahumi , Kanzaki Akio , Yawata Yoshihito , Hirono Akira , Miwa Shiro 
Published: June 2005

AbstractWe describe a 30‐month‐old boy with multiple anomalies and mental retardation with hereditary spherocytic anemia. His karyotype was 46,XY,del(8)(p11.23p21.1). Genes for ankyrin and glutathione reductase (GSR) were localized to chromosome areas 8p11.2 and 8p21.1, respectively. Six patients with spherocytic anemia and interstitial deletion of 8p– have been reported. In these patients, severe mental retardation and multiple anomalies are common findings. This is a new contiguous gene syndrome. Lux et al. [1990: Nature 345:736–739] established that ankyrin deficiency and associated deficiencies of spectrin and protein 4.2 were responsible for spherocytosis in this syndrome. We reviewed the manifestations of this syndrome. Patients with spherocytic anemia and multiple congenital anomalies should be investigated by high‐resolution chromosomal means to differentiate this syndrome. © 1995 Wiley‐Liss, Inc.