bluuebunny/crossref_metadata_2025_split huggingface dataset:
Brachyolmia: An autosomal dominant form
Authors: Gardner Jessica , Beighton Peter 
Published: June 2005

AbstractWe have investigated a mother and son of South African Xhosa stock who presented with short‐trunk dwarfism and kyphoscoliosis. Radiographs show the marked platyspondyly and vertebral irregularity characteristic of brachyolmia. Our patients provide further evidence for the existence of an autosomal dominant form and supports the theory of heterogeneity in this rare group of genetic skeletal disorders. Molecular investigations in this South African family are currently underway but at present the basic defect of brachyolmia remains unknown. © 1994 Wiley‐Liss, Inc.
Delineatino of the da‐Silva syndrome
Authors: Naritomi Kenji , Tohma Takaya , Goya Yoshinobu , Shiroma Noboru , Hirayama Kiyotake 
Published: June 2005

AbstractWe present a 6‐month‐old boy with agenesis of the corpus callosum, hypertonicity, severe growth and psychomotor retardation, microcephaly, large prominent ears, and delayed bone age. Similarity of his manifestations to these in 3 sibs described by da‐Silva in 1988 suggests initial delineation of the da‐Silva syndrome. © 1994 Wiley‐Liss, Inc.
Stratton‐Parker syndrome: Confirmation of a new entity
Authors: Gabrielli Orazio , Carloni Ines , Catassi Carlo , Natalini Giuliana , Coppa Giovanni V. , Giorgi Pierluigi 
Published: June 2005

AbstractRecently, Stratton and Parker [Am J Med Genet 32:169–173, 1989] reported on a child with a previously undescribed combination of growth hormone deficiency, wormian bones, dextrocardia, brachycamptodactyly, and other midline defects. We report on another patient with similar clinical signs. © 1994 Wiley‐Liss, Inc.
Relatively low proportion of dystrophin gene deletions in Israeli Duchenne and Becker muscular dystrophy patients
Authors: Shomrat Ruth , Gluck Eithan , Legum Cyril , Shiloh Yosef 
Published: June 2005

AbstractDuchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are allelic disorders caused by mutations in the X‐linked dystrophin gene. The most common mutations in western populations are deletions that are spread non‐randomly throughout the gene. Molecular analysis of the dystrophin gene structure by hybridization of the full length cDNA to Southern blots and by PCR in 62 unrelated Israeli male DMD/BMD patients showed deletions in 23 (37%). This proportion is significantly lower than that found in European and North American populations (55–65%). Seventy‐eight percent of the deletions were confined to exons 44–52, half of these to exons 44–45, and the remaining 22% to exons 1 and 19. There was no correlation between the size of the deletion and the severity of the disease. All the deletions causing frameshift resulted in the DMD phenotypes. © 1994 Wiley‐Liss, Inc.
Terminal deletion of the long arm of chromosome 2 in a premature infant with karyotype: 46,XY,del(2)(q37)
Authors: Wang Tung‐Ho , Johnston Kathreen , Hsieh Chih‐Lin , Dennery Phyllis A. 
Published: June 2005

AbstractWe present a premature newborn boy with multiple congenital anomalies, including craniofacial anomalies, syndactyly, cardiac defects, and a horseshoe kidney associated with terminal deletion of 2q. The infant's karyotype was 46,XY,del(2)(q37). Clinical, cytogenetic, and autopsy findings are presented in this report. Clinical manifestations in this infant are compared with those four other known patients with terminal deletion of chromosome 2. © 1994 Wiley‐Liss, Inc.
Linkage localization of the thoraco‐abdominal syndrome (TAS) gene to Xq25–26
Authors: Parvari R. , Weinstein Y. , Ehrlich S. , Steinitz M. , Carmi R. 
Published: June 2005

AbstractThe thoraco‐abdominal syndrome (TAS) presents a closure defect confined to the ventral midline, manifested as ventral hernia of various degrees in all affected individuals and antero‐lateral diaphragmatic defect manifested almost exclusively in affected males. The syndrome is inherited as an X‐linked dominant trait affecting blastogenesis (XLB mutation).We studied 27 members of the TAS family for linkage on the X chromosome. The best lod score of 5.5 at θ 0.04 was found for the HPRT locus on Xq26.1. A multilocus lod score of 12.4 was observed when the linkage analysis utilized additional markers in Xq25–26. © 1994 Wiley‐Liss, Inc.
X‐linked laterality sequence in a family with carrier manifestations
Authors: Mikkilä S. P. , Janas M. , Karikoski R. , Tarkkila T. , Simola K. O. J. 
Published: June 2005

AbstractX‐linked laterality sequence (XLLS) consists of situs inversus, complex cardiac defects, and alterations in the development of the spleen. We describe a family in which two male cousins had XLLS with caudal manifestations. In our family, the obligate carrier females had uterine septum and hypertelorism, which may be gene carrier manifestations. © 1994 Wiley‐Liss, Inc.
Identification of a small supernumerary ring chromosome 8 by fluorescent in situ hybridization in a child with developmental delay and minor anomalies
Authors: Melnyk A. R. , Dewald G. 
Published: June 2005

AbstractWe report a 15‐month‐old female with developmental delay, hypotonia, and minor anomalies whose karyotype is 47,XX, + r. Due to its small size, the origin of the ring chromosome was indeterminate by standard G‐banded karyotyping. Fluorescent in situ hybridization was performed, which indicated that the ring chromosome was derived from the pericentric region of chromosome 8. © 1994 Wiley‐Liss, Inc.
Prenatal diagnosis of unusual hemoglobinopathies
Authors: Kim Jong‐Hwa , Lebo Roger V. , Cai Shi‐Ping , Su Xia , Chung Jae‐Hyun , Mentzer William C. , Golbus Mitchell S. 
Published: June 2005

AbstractWhile analyzing 280 hemoglobinopathy kindreds with prescribed molecular tests, 3 unusual mutations were observed that required additional characterization. In the first case, the hypervariable region flanking the α‐globin genes generated an intermediate length 8.2kb Ψζ‐globin gene fragment on a Southeast Asian chromosome with two deleted α‐globin genes. Rehybridization of the Southern blot with α‐globin probe distinguished the mutation unambiguously. In the second case, restriction enzyme analysis of a PCR amplified black β‐globin gene detected a novel β−83 point mutation adjacent to a promoter element. In the third case, which was uninformative with available allele specific oligonucleotides (ASOs), total genomic PCR amplification and sequencing identified a single basepair insertion in codon 36/37 of an Iranian β‐globin gene that shifted the reading frame and obliterated gene activity. Developing additional region‐specific ASOs will further diminish the number of cases that must be characterized by genomic PCR sequencing. © 1994 Wiley‐Liss, Inc.
Confirmation of proximal 1q duplication using fluorescence in situ hybridization
Authors: Chen Harold , Kusyk Christine J. , Tuck‐Muller Cathy M. , Martinez Jose E. , Dorand Rodney D. , Wertelecki Wladimir 
Published: June 2005

AbstractWe report on a boy with excessively wrinkled skin, mild micro/brachycephaly with mild hydrocephalus and slightly small temporal lobes, apparently low‐set ears, retro/micrognathia and cleft soft palate (Pierre‐Robin anomaly), patent ductus arteriosus and foramen ovale, pulmonary hypoplasia, eventration of the left hemidiaphragm, right cryptorchidism, a sacral dimple, flexion contractures of fingers and knees, and equinovarus deformities of both feet. The infant had a de novo dir dup(1)(pter→ q25::q12→qter). Partial duplications involving proximal 1q have rarely been reported. Furthermore, this is the first case of proximal duplication of chromosome 1q with unequivocal identification using fluorescence in situ hybridization (FISH) with a chromosome 1 painting probe. © 1994 Wiley‐Liss, Inc.
Anophthalmia, cleft lip/palate, facial anomalies, and CNS anomalies and hypothalamic disorder in a newborn: A midline developmental field defect
Authors: Leichtman Lawrence G. , Wood Brian , Rohn Reuben 
Published: June 2005

AbstractWe describe an infant with a unique pattern of midline defects, including anophthalmia, cleft lip and palate, macrocephaly, cutis aplasia, and micrognathia. CNS anomalies including massive hydrocephalus with destruction of most recognizable structures were observed. The infant also developed panhypopituitarism, diabetes insipidus, and a seizure disorder. We postulate that this patient could represent a more complex form of the Delleman syndrome or a new morphogenetic syndrome secondary to ventral induction with extension to the developmental fields of the first and second branchial arches. © 1994 Wiley‐Liss, Inc.
Hypoplasia of the cerebellar vermis and corpus callosum in thrombocytopenia with absent radius syndrome on MRI studies
Authors: MacDonald Madeleine R. , Schaefer G. Bradley , Olney Ann Haskins , Patton Donna F. 
Published: June 2005

AbstractThrombocytopenia with absent radius (TAR) syndrome is infrequently (7%) associated with mental retardation. In those cases, the mental deficiency is presumed to be a consequence of intracranial hemorrhage due to the thrombo‐cytopenia. We report on 2 infants with TAR syndrome. One had developmental delay with evidence of cerebral dysgenesis by magnetic resonance imaging (MRI). Such findings have not been noted in the literature, but may not have been investigated in most cases. The other infant with TAR syndrome, who has had normal psychomotor development, has a normal brain on MRI scan. Detailed neuroimaging studies, preferably MRI, should be considered in the evaluation of patients with TAR syndrome, especially when there are documented signs of developmental delay, with or without a history of intracranial hemorrhage. © 1994 Wiley‐Liss, Inc.
Confined placental chimerism: Prenatal and postnatal cytogenetic and molecular analysis, and pregnancy outcome
Authors: Falik‐Borenstein Tziporah C. , Korenberg Julie R. , Schreck Rhona R. 
Published: June 2005

AbstractThe presence of two cell lines in chorionic villi sampling (CVS) represents a significant complication in CVS analysis, interpretation, and counseling. We report on the cytogenetic and molecular analysis of a pregnancy that was conceived on clomiphen citrate. Two cell lines (46,XX and 47,XY, + 9) were discovered in CVS analysis done for maternal age; 94% of the cells in the culture were 46,XX and 6% were 47,XY, + 9 (the direct preparation was 46,XX). As neither line could have derived from the other, chimerism and not mosaicism was suspected, with the 47,XY, + 9 cells deriving from a co‐twin whose demise was the result of the autosomal trisomy. At a subsequent amniocentesis, only normal female cells were observed and a normal female infant was delivered at term. Cytogenetic analysis done on the infant's peripheral blood and on a sample of an umbilical vessel showed only 46,XX cells, while amnion and a fibrotic area of the placenta contained 2 cell lines, 46,XX and 47,XY, + 9.Molecular analysis of 3 different tissues was done by the polymerase chain reaction (PCR) and Southern blotting, using Y specific primers and probes, respectively. The presence of Y specific DNA was detected in the placenta and amnion, but not in the umbilical blood vessel. These data excluded true chimerism in the fetal tissues at the level of about 1 in 105 cells and have defined for the first time probable confined placental chimerism (CPC), the result most likely of a “vanishing twin.” Whenever two cell lines are found in CVS, especially in the setting of pharmacologically stimulated ovulation, the possibility of CPC should be considered. The effects of CPC on placental function and fetal outcome merit further study. © 1994 Wiley‐Liss, Inc.
Cephalometric evidence for a dominantly inherited predisposition to cleft lip‐cleft palate in a single large kindred
Authors: Ward Richard E. , Bixler David , Jamison Paul L. 
Published: June 2005

AbstractSeveral studies have demonstrated an association between facial shape in parents and the presence of oral clefts in their offspring. However, these observations have been of little practical value because it has been assumed that facial shape was just one predisposing component among many in a multifactorial model of inheritance. Cephalometric analysis of a large family with 5 generations of affected individuals suggests that facial shape can be used to identify presumed carriers of a major gene associated with an increased risk for oral clefts. Discriminant function analysis indicates that such at risk individuals can be recognized effectively through a combination of increased midfacial and nasal cavity widths, reduced facial height, and a flat facial profile. The ability to identify minimally affected gene carriers within families would provide critical information needed in the search for molecular markers that segregate with the genetic risk for clefting. © 1994 Wiley‐Liss, Inc.
Isochromosome 15q of maternal origin in two Prader‐Willi syndrome patients previously diagnosed erroneously as cytogenetic deletions
Authors: Saitoh Shinji , Mutirangura Apiwat , Kuwano Akira , Ledbetter David H. , Niikawa Norio 
Published: June 2005

AbstractSince our previous report on two Prader‐Willi syndrome (PWS) patients with t(15q;15q) (Niikawa and Ishikiriyama; Hum Genet 69:22–27,1985) was erroneous, we report here new data and a corrected interpretation. Reexamination of the parental origin of their t(15q;15q) using polymorphic DNA markers that are mapped to various regions of 15q documented no molecular deletions at the 15q11‐q13 region in either patient. Both patients were homozygous at all loci examined and their haplotypes on 15q coincided with one of those in their respective mothers. These results indicate that the presumed t(15q;15q) in each patient was actually an isochromosome 15q producing maternal uniparental disomy, consistent with genomic imprinting at the PWS locus. © 1994 Wiley‐Liss, Inc.
Heteroduplex analysis of the dystrophin gene: Application to point mutation and carrier detection
Authors: Prior Thomas W. , Papp Audrey C. , Snyder Pamela J. , Sedra Mary S. , Western Lorraine M. , Bartolo Claire , Moxley Richard T. , Mendell Jerry R. 
Published: June 2005

AbstractApproximately one‐third of the Duchenne muscular dystrophy patients have undefined mutations in the dystrophin gene. For carrier and prenatal studies in families without detectable mutations, the indirect restriction fragment length polymorphism linkage approach is used. Using a multiplex amplification and heteroduplex analysis of dystrophin exons, we identified nonsense mutations in two DMD patients. Although the nonsense mutations are predicted to severely truncate the dystrophin protein, both patients presented with mild clinical courses of the disease. As a result of identifying the mutation in the affected boys, direct carrier studies by heteroduplex analysis were extended to other relatives. We conclude that the technique is not only ideal for mutation detection but is also useful for diagnostic testing. © 1994 Wiley‐Liss, Inc.
Three new cases of the Schinzel‐Giedion syndrome and review of the literature
Authors: Labrune Philippe , Lyonnet Stanislas , Zupan Véronique , Imbert Marie‐Claire , Goutieres Françoise , Hubert Philippe , Le Merrer Martine 
Published: June 2005

AbstractThree fetuses with normal chromosomes were found to have uni‐ or bilateral hydronephrosis during the third trimester of pregnancy. At birth, they presented with coarse face, hypertelorism, and a deep groove under the eyes. Fontanelles and sutures were wide open. Genital abnormalities were present in 2 cases. Skeletal radiographs showed delayed bone maturation, broad and dense ribs, and a wide synchondrosis between the exoccipital and supraoccipital bones. The combination of such findings suggested the diagnosis of Schinzel‐Giedion syndrome. Two patients died soon after birth, whereas the third one developed severe mental and motor retardation with seizures and spasticity, and died at 18 months.Schinzel‐Giedion syndrome is rare and likely to be inherited as an autosomal recessive trait. So far, 13 well‐documented cases have been reported allowing major and minor traits of the syndrome to be distinguished. Since no genetic marker is available, the prenatal diagnosis of Schinzel‐Giedion syndrome relies on ultrasound examination, especially detection of renal abnormalities. © 1994 Wiley‐Liss, Inc.
Deletions of Xq and growth deficit: A review
Authors: Geerkens Claudia , Just Walter , Vogel Walther 
Published: June 2005

AbstractA critical review of the literature disclosed 44 cases with a 46,X,Xq‐ karyotype without apparent mosaicism. Of these, 17 were of normal height (compared to the respective population), 11 had a height of over 1 SD below the mean, and 16 had a height of over 2 SD below the mean with breakpoints between Xq13 and Xq25. Since patients of normal height occurred with breakpoints as proximal as Xq13 we conclude that there is no major “growth gene” on Xq distal to q13. The most likely explanation for the variable phenotypic effect of Xq‐ is to assume that growth gene(s) in Xp or proximal Xq are inactivated on such a chromosome with some variability similar to the variable spreading of X inactivation seen in some X‐autosome translocations. © 1994 Wiley‐Liss, Inc.
Lower mesodermal defects: A common cause of fetal and early neonatal death
Authors: Pauli Richard M. 
Published: June 2005

AbstractAmong the first 1,130 referrals to the Wisconsin Stillbirth Service Program 17 infants have been recognized to share phenotypic characteristics involving the genital, urinary, lower gastrointestinal, and axial skeletal systems. The pattern of abnormalities identified appears to be limited to structures sharing a common embryologic origin. These features, for the most part, are shown to be non‐randomly associated. No clearly definable sub‐groups within this population are demonstrable. The pattern of abnormalities is defined to include abnormalities of the following structures as pathogenetically primary features: lumbosacral vertebrae, kidneys, ureters, uterus/fallopian tubes, vagina, bladder, urethra, adrenals, gonads, anorectum, external genitalia, and umbilical arteries. An embryologic mechanism is proposed which explains this non‐random association as arising secondary to disruption of structures derived from the lower portion of the primitive intra‐embryonic mesoderm. The Lower Mesodermal Defects Sequence appears to be a rather common (and under‐recognized) cause of stillbirth and immediate neonatal death. © 1994 Wiley‐Liss, Inc.
Duplication 20p identified via fluorescent in situ hybridization
Authors: LeChien Kay A. , McPherson Elizabeth , Estop Anna M. 
Published: June 2005

AbstractA 3‐year‐old girl is reported with dup (20p) resulting from 3:1 segregation of a de novo t(20;21). The proposita presented with minor anomalies, developmental delay, a clinical phenotype suggestive of 20p trisomy, and a karyotype with a 21p+ and an additional small marker chromosome. Conventional cytogenetic techniques were not informative for the identification of the origin of the extra material of chromosome 21p nor for the marker chromosome. The 21p + and marker chromosomes were successfully characterized using fluorescent in situ hybridization (FISH). © 1994 Wiley‐Liss, Inc.
Growth hormone (GH), insulin‐like growth factors (IGFs), and IGF‐binding protein‐3 (IGFBP‐3) in a child with Proteus syndrome
Authors: Rudolph Günter , Blum Werner F. , Jenne Enno W. , Schöning Martin , Enders Herbert , Meitinger Thomas , Murken Jan D. , Kampik Anselm 
Published: June 2005

AbstractProteus syndrome is a congenital hamartomatous disorder characterized by partial overgrowth involving all germ layers. A somatic mutation model has been proposed since familial cases are extremely rare. We report on a 3‐year‐old girl with typical manifestations of Proteus syndrome, including local, asymmetric hypertrophy of various parts of the body. Total body length was reduced. Serum levels of IGF‐I and especially IGF‐II and their major growth hormone dependent binding protein (IGFBP‐3) were significantly reduced, although growth hormone secretion after a pharmacological stimulus was normal. In vitro studies of fibroblasts derived from hypertrophied tissue showed normal IGF‐I production and somewhat reduced IGF‐II and IGFBP‐3 production as compared to normal human skin fibroblasts.Affinity cross‐linking experiments showed that fibroblasts of the affect tissue in Proteus syndrome produced an unusual pattern of IGF bindings proteins containing large amounts of an IGFBP with high affinity to IGF‐II. The data suggest that IGF production is generally disturbed in Proteus syndrome with imbalanced levels of specific IGFBP in affected tissue. © 1994 Wiley‐Liss, Inc.
Scalp‐ear‐nipple syndrome: Additional manifestations
Authors: Edwards Matthew J. , McDonald David , Moore Patrick , Rae John 
Published: June 2005

AbstractScalp‐ear‐nipple (SEN) syndrome is a rare, autosomal dominant condition that causes aplasia cutis congenita of the scalp, alteration of the shape of the external ear, and hypoplasia of the nipple. Women in a new family, the fifth to be described, had virtually complete aplasia of the breast and a small skin dimple without any pigmentation instead of a normal nipple, although other affected women had normal breast and nipple development. Dental changes included widely spaced or missing secondary teeth; the ears were cupped or folded and stood out from the head, axillary apocrine secretion and axillary hair growth were reduced; and finger nails were brittle. There was no generalized abnormality of sweating. Some patients had partial syndactyly of the 3rd and 4th fingers, and complete cutaneous syndactyly of the 2nd and 3rd toes. © 1994 Wiley‐Liss, Inc.
Recombinant chromosome 18 resulting from a maternal pericentric inversion
Authors: Ayukawa Hiroshi , Tsukahara Masato , Fukuda Masamichi , Kondoh Osamu 
Published: June 2005

AbstractWe report on a newborn girl with duplication of 18q12.2→18qter and deficiency of 18p11.2→18pter which resulted from meiotic recombination of the maternal pericentric inversion, inv(18) (p11,2q12.2). Her clinical manifestations were compatible with those of partial trisomy 18q syndrome. We review the previously reported 9 cases in 8 families of rec(18) resulting from recombination of a parental pericentric inversion. © 1994 Wiley‐Liss, Inc.
Developmental regulation of the expression of genes encoding proteins involved in cholesterol homeostasis
Authors: Ness Gene C. 
Published: June 2005

AbstractThe developmental patterns of expression of HMG‐CoA reductase, farnesyl pyrophosphate synthase, cholesterol 7α‐hydroxylase, and LDL receptor were investigated using Northern blotting analysis to quantitate mRNA levels. It was found that HMG‐CoA reductase and farnesyl pyrophosphate synthase mRNA levels in brain reached peaks at age 4 days which correlates with the time of peak enzyme activity and the onset of rapid brain growth and myelination. In liver, HMG‐CoA reductase and cholesterol 7α‐hydroxylase mRNA both rose dramatically at weaning. This is consistent with the concept that de novo synthesized cholesterol is the preferred substrate for cholesterol 7α‐hydroxylase and may also be involved in the induction of the enzyme. In testes, HMG‐CoA reductase activity was highest at age 21 days and then declined, while LDL receptor mRNA levels rose from age 31 to 120 days. These studies suggest a major role for de novo cholesterol synthesis in developing brain, liver, and testes. © 1994 Wiley‐Liss, Inc.
Smith‐Lemli‐Opitz syndrome: Biochemical before clinical diagnosis; early dietary management
Authors: Nwokoro Ngozi A. , Hyde Bruce , Mulvihill John J. 
Published: June 2005

AbstractPursuit of a possible metabolic basis for an unrecognized pattern of multiple congenital anomalies in a newborn girl led to the detection of a huge elevation of plasma 7‐dehy‐drocholesterol at age 8 months. The biochemical findings and the evolving clinical picture led to the diagnosis of Smith‐Lemli‐Opitz syndrome at age 11 months. High cholesterol diet may have improved the rate of developmental progress. © 1994 Wiley‐Liss, Inc.