bluuebunny/crossref_metadata_2025_split huggingface dataset:
Trisomy 14 mosaicism in a 5‐year‐old boy
Authors: Vachvanichsanong Prayong , Jinorose Uraiwan , Sangnuachua Pantipya 
Published: June 2005

AbstractWe report on a 5‐year‐old boy with failure to thrive, mental retardation, a broad nose, hypertelorism, slight antimongoloid slant palpebral fissures, mild ptosis, microphthalmia, short and wide neck, apparently acyanotic tetralogy of Fallot, dislocation of the left hip, generalized linear and patchy hyperpigmentation, micropenis, and undescended testes. He had mosaicism of 46,XY/47,XY, + 14 in a ratio of 3:1. Comparisons are made with the other reports of trisomy 14 mosaicism and relationship to incontinentia pigmenti.
Newly recognized syndrome of cerebral, ocular, dental, auricular, skeletal anomalies: CODAS syndrome—a case report
Authors: Shebib Souheil M. , Reed Martin H. , Shuckett E. Paul , Cross Howard G. , Perry John B. , Chudley Albert E. 
Published: June 2005

AbstractWe report on a child with a unique constellation of congenital anomalies suggesting a new syndrome. These consist of developmental delay; craniofacial abnormalities, including bilateral cataracts, ptosis, median nasal groove, malformed ears with associated neurosensory hearing loss; dental anomalies consisting of anomalous cusp morphology with unusual pointed extensions and delayed tooth eruption; short stature with marked delay in epiphyseal ossification; coronal clefts involving vertebrae T11‐S2; and dislocated hips. A literature search and use of a computer‐assisted syndrome‐identification program failed to uncover an identical case.
Acrocallosal syndrome: A new case
Authors: Lungarotti M. Serena , Marinelli Doretta , Mezzetti Daniele , Caputo Nevia , Calabro Anna 
Published: June 2005

AbstractWe describe a 2‐month‐old infant girl with typical clinical manifestations of the acrocallosal syndrome: characteristic face, agenesis of corpus callosum, polydactyly associated with other anomalies of the extremities, and mental retardation. The importance of a correct nosology and genetic counseling is underlined on the basis of the description of familiar cases of the syndrome.
On the inheritance of primary spontaneous pneumothorax
Authors: Abolnik Igor Z. , Lossos Izidore S. , Zlotogora Joel , Brauer Raphael 
Published: June 2005

AbstractWe report on 15 families with familial primary spontaneous pneumothorax detected through a retrospective study of a large group of male patients. Genetic analysis of these families together with 14 families from the literature in which enough details were available suggested 2 possible models of inheritance.First, the familial cases are due to an autosomal dominant gene with incomplete penetrance, the penetrance being lower in females (21%) than in males (50%).Second, the familial cases represent a heterogeneous group of patients: some of the familial cases are due to an X‐linked recessive gene and others to an autosomal dominant gene with the incomplete penetrance (35% in females and 50% in males).The second model may explain the excess of female carriers found in the families of the patients and is supported by the existence of clinical differences between the patients in each of the sub‐groups. In particular the number of episodes of pneumothorax per patient was significantly higher in the subgroup with the autosomal dominant form than in the sub‐group with the X‐linked recessive form of the disease.
Applications of the concept of attributable fraction in medical genetics
Authors: Khoury Muin J. , Beaty Terri H. , Cohen Bernice H. 
Published: June 2005

AbstractAttributable fraction, the fraction of cases of a disease in a population attributed to a particular risk factor, is a useful measure in the design and interpretation of epidemiologic studies of disease etiology. We review here the applications of the concept of attributable fraction in medical genetics. Specifically, attributable fraction can be used 1) in studies of the association between genetic traits and specific diseases to quantitate the contribution of specific alleles to disease occurrence in a population; 2) in population studies of mutations and birth defects to estimate the impact of mutagens and teratogens; and 3) in genetic analyses of family data, to evaluate the contribution of putative single gene loci to disease etiology. In the latter context, the concept of attributable fraction can be contrasted with the more commonly used concept of heritability. Examples from the literature provide illustrations of the usefulness of attributable fraction in medical genetic studies.
New syndrome? Osteochondrodysplasia with rhizomelia, platyspondyly, callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension
Authors: Faye‐Petersen Ona Marie , Ward Ken , Carey John C. , Knisely A. S. 
Published: June 2005

AbstractA female infant born at term to phenotypically normal nonconsanguinous parents had hypertension, thrombocytopenia, hydrocephalus, callosal agenesis, and nonlethal rhizomelic osteochondrodysplasia. Her osteochondrodysplasia was characterized roentgenographically by shortening and metaphyseal broadening of long bones, without bowing, and by platyspondyly, with deficient ossification of dorsal and central portions of vertebral bodies. By light microscopy, the iliac crest growth plate showed expansion of the zone of chondrocyte hypertrophy and degeneration, with faulty columnar alignment, sparse vascular ingrowth, and irregular mineralization at the zone of chondroosseous transformation. These findings appear to define a novel osteochondrodysplasia, which in association with hypertension, thrombocytopenia, hydrocephalus, and callosal agenesis may constitute a new syndrome.
Di George anomaly associated with a de novo Y;22 translocation resulting in monosomy del(22)(q11.2)
Authors: Lupski James R. , Langston Claire , Friedman Richard , Ledbetter David H. , Greenberg Frank 
Published: June 2005

AbstractWe report on an infant, born to a diabetic mother, who presented with hypocalcemia and congenital heart disease, presurgically diagnosed by echocardiography as truncus arteriosus type I. Cytogenetic analysis showed a 45,X, −Y, −22, + der‐(Y)t(Y;22) (p11.3q11.2) chromosome abnormality with del(22)(q11.2). Parental chromosomes were normal. Autopsy showed persistent truncus arteriosus type II and thymic aplasia consistent with DiGeorge anomaly. This report adds to the existing literature demonstrating an association between DiGeorge anomaly and monosomy 22q11.
Dietary management reverses grooving and abnormal polarization of hair shafts in argininosuccinase deficiency
Authors: Kvedar Joseph C. , Baden Howard P. , Baden Lynn A. , Shih Vivian E. , Kolodny Edwin H. 
Published: June 2005

AbstractWe have observed that the fragile hair of two untreated patients with argininosuccinic aciduria showed abnormal alternating zones of bright and dark banding by polarizing microscopy. Scanning electron microscopy documented discontinuous grooves with a 50 to 100 μm periodicity. Results of amino acid analysis of the hair were essentially normal. After the patients were treated with a lowprotein, arginine‐supplemented diet, the hair assumed a normal appearance. Five patients already treated with diet showed no hair abnormalities. The pathogenesis of the hair changes is unknown, but our findings suggest that products generated in the disease can adversely affect metabolically active tissue such as hair.
Two cases of steroid sulfatase deficiency with complex phenotype due to contiguous gene deletions
Authors: Nishimura Shin‐Ichiro , Masuda Hiroyuki , Matsumoto Takahiko , Sakura Nobuo , Matsumoto Tomoaki , Ueda Kazuhiro 
Published: June 2005

AbstractWe report contiguous gene deletions in the distal short arm of the X chromosome in two patients with ichthyosis, due to steroid sulfatase deficiency, and other complex phenotypes. One patient had chondrodysplasia punctata (CDP) and ichthyosis with a normal chromosome constitution. Another patient had a CDP‐like phenotype, ichthyosis, and hypogonadism. His karyotype was 46, ‐X,Y, + der(X)t(X;Y)(p22;q11). DNA from the two patients was analyzed by Southern blotting using cloned fragments mapped in the Xp21‐Xpter region to investigate gene deletions. DNA from the patient with CDP showed a gene deletion of the STS, DXS31, and DXS89 loci, and DNA from the patient with X‐Y trans‐location lacked fragments of the STS, DXS31, DXS89, and DXS143 loci. These findings suggest that the common deleted region involving the STS locus might have caused the similar phenotypes in both patients.
Partial duplication of Xp: A case report and review of previously reported cases
Authors: Wyandt Herman E. , Bugeau‐Michaud Lucille , Skare James C. , Milunsky Aubrey 
Published: June 2005

AbstractWe report clinical and cytogenetic findings on a 24‐year‐old woman with short stature, irregular menses, and other anomalies suggestive of Ullrich‐Turner syndrome (UTS). Chromosome analysis documented a de novo duplication of Xp21 without any apparent microscopic deletion. DNA studies showed that part of band Xp22.1 is also duplicated. The clinical findings are compared with 5 other patients with dup(Xp).
Apparent late‐onset Cockayne syndrome and interstitial deletion of the long arm of chromosome 10 (del(10)(q11.23q21.2))
Authors: Fryns J. P. , Bulcke J. , Verdu P. , Carton H. , Kleczkowska A. , van den Berghe H. 
Published: June 2005

AbstractWe present the history and data on a 24‐year‐old man with clinical and neurological symptoms similar to the findings in patients with late‐onset Cockayne syndrome.Prometaphase chromosome studies documented an interstitial 10q211 deletion in all cells. This finding may indicate that the gene for late Cockayne syndrome is at 10q211.
Balanced reciprocal translocation mosaicism: New cases and a literature review
Authors: Farrell S. A. 
Published: June 2005

AbstractMosaicism for a balanced reciprocal translocation is uncommon. These two new cases were detected during investigation of infertility and miscarriages. Otherwise, the probands were normal. Of five previously described cases, only one was possibly syndromal. More reports of this class of chromosomal aberration are needed to assess accurately the risk of phenotypic abnormalities.
Fused eyelids, airway anomalies, ovarian cysts, and digital abnormalities in siblings: A new autosomal recessive syndrome or a variant of Fraser syndrome?
Authors: Mena Wahib , Krassikoff Natalie , Philips Joseph B. 
Published: June 2005

AbstractWe describe two siblings of unlike gender born to non‐consanguineous parents, with similar and unique congenital malformations. These include fused eyelids, craniofacial anomalies, ovarian cyst, subglottic stenosis, specific digital abnormalities, and no detected chromosomal abnormality. The specific digital abnormalities in both patients are characterized by extension of metacarpo‐phalangeal joints with flexion of the proximal interphalangeal joint of both index fingers with resulting overlap of the second digit over the third. Similar changes were noted in both second toes. The brain weight of both infants was less than that expected for their birth weights. We reviewed the differential diagnosis of fused eyelids, airway anomalies, and ovarian cysts, and the manifestations resemble those seen in Fraser syndrome. We conclude that the dissimilarities warrant considering that our patients have a distinct autosomal recessive syndrome.
Premutation for the Martin‐Bell syndrome analyzed in a large pedigree segregating also for G6PD‐deficiency. I: A working hypothesis on the nature of the FRAX‐mutations
Authors: Filippi Giorgio , Arslanian Araxy , Dagna‐Bricarelli Franca , Pierluigi Mauro , Grasso Marina , Rinaldi Antoniettina , Rocchi Mariano , Siniscalco Marcello 
Published: June 2005

AbstractA large Sardinianfamily including 13 Martin‐Bell syndrome (MBS) patients, several instances of normal transmitting males or females, and the G6PD‐Mediterranean mutant segregating in some of its branches, has been thoroughly investigated with the hope of gaining further insight on the nature of the FRAX‐mutation. All the MBS patients and the 15 obligate heterozygous women present in the pedigree could be traced back through their X‐chromosome lineage to the same ancestress, who must have been heterozygous for a silent premutation at the FRAX‐locus. This premutation appears to have turned into a true FRAX‐mutation at least 9 times during the gametogenesis of the ancestress' X‐related descendants of whom four are males. This finding alone suggests that the transition from the FRAX premutation to the true mutation can be the result of intra‐ as well as interchromosomal events. This conclusion is supported by the additional observation that the genetic phase between the FRAX and the G6PD loci remained unaltered when the transition occurred in a repulsion double heterozygote for the premutation and the G6PD‐Mediterranean mutant. The data described are compatible with the hypothesis that MBS patients and normal transmitting males are, respectively, hemizygous for deletion or duplication products generated by aberrant recombination events at a highly recombinogenic site of the region Xq27‐Xqter. The overall message stemming from this report is that no firm conclusion can be drawn on the genetic linkage between the FRAX‐locus and other markers of this region until the nature of the FRAX‐mutations and the mechanism of their occurrence are fully understood.
Extending the Pallister‐Hall syndrome to include other central nervous system malformations
Authors: Finnigan David P. , Clarren Sterling K. , Haas Joel E. 
Published: June 2005

AbstractHall‐Pallister syndrome is defined by specific facial anomalies, post axial polydactyly, imperforate anus, and brain anomalies including a rare diencephalic mass, hypothalamic hamartoblastoma. In this article, two patients are described with the usual features of Hall‐Pallister syndrome, including diencephalic anomalies, but without hamartoblastomas. These patients may suggest an appropriate extension of the definition of the Hall‐Pallister syndrome.
New syndrome? Ectrodactyly, retrognathism, abnormal ears, highly arched palate, spina bifida, congenital heart defect, single umbilical artery
Authors: Kasznica John , Carlson J. Andrew , Coppedge David 
Published: June 2005

AbstractWe report a possible new syndrome in a female abortus with the following abnormalities: ectrodactyly limited to the feet, a “simplified” ear pattern, mild retrognathism, highly arched palate, spina bifida of open myelomeningocele type, membranous type ventricular septal defect, and single umbilical artery.
Chromosome 7p – syndrome: Craniosynostosis with preservation of region 7p2
Authors: Aughton David J. , Cassidy Suzanne B. , Whiteman David A. H. , Delach Judith A. , Guttmacher Alan E. 
Published: June 2005

AbstractDeletion of a portion of the short arm of chromosome 7 is associated with a recognizable phenotype which often includes craniosynostosis. Recent reports have suggested that craniosynostosis occurs only if there is a deletion involving band 7p21 or the segment distal to that band. We report on a boy who had an interstitial deletion of7p, not involving band 7p21 or the segment distal to that band, who nevertheless had craniosynostosis. Thus, it appears that the determination of craniosynostosis in this syndrome is more complicated than has been suggested previously.
Hypomelanosis of ito associated with chromosomal translocation involving Xp11
Authors: Lungarotti M. Serena , Martello Cecilia , Calabro Anna , Baldari Franco , Mariotti Giacomo 
Published: June 2005

AbstractWe report on a 3‐year‐old girl with hypohelanosis of Ito (HI). She has typical skin letions and mild CNS involvement characerized by impaired walking and borderline hental retardation.Cytogenetic investigation showed a 18/X translocation with breakpoint on Xp11.This is the sixth case of HI in whcih this reakpoint has been reported, undrlining hat this event cannot be considered coinciental. Further studies are needed to undrtand the etiologic and pathogenetic meaning of this finding.
Neurological aspects of del(1q) syndrome
Authors: Murayama Keiko , Greenwood Robert S. , Rao Kathleen W. , Aylsworth Arthur S. 
Published: June 2005

AbstractWe have studied three children with de novo terminal deletion of the long arm of chromosome 1 (46,XX,del(1)(q43)). They all have minor anomalies and neurological signs (severe psychomotor developmental delay, generalized hypotonia, and seizures) that have been described previously. In addition, all of these three patients have autistic‐like behavior. They avoid eye contact, show no interest in people, express little emotion, and repeat stereotypic movements such as head nodding and purposeless finger manipulation. They also spend excessive time in making unusual sounds consisting of a high‐pitched shrill cry with little intonation in infancy and a harsh, strained, and glottal stridency in later life. They make no labial, lingual, or nasal sounds. We suggest that these observations may be unique clinical manifestations of certain terminal 1q deletions.
Quantitative analysis of associations between birth defects and suspected human teratogens
Authors: Khoury Muin J. , James Levy M. , Lynberg Michele C. 
Published: June 2005

AbstractCase series of infants with certain birth defect patterns and putative teratogenic exposures should be interpreted with caution since the presence of birth defects and the exposure among the same infants could be entirely due to chance. In the absence of other epidemiologic data, the plausibility for a causal association is strengthened by 1) rarity of the defect pattern, 2) rarity of the exposure in the population, 3) small source population, 4) short time period for the study, and 5) biologic plausibility for the association. These concepts are illustrated using case reports of putative teratogenicity of cocaine and etretinate. In the presence of epidemiologic data, the concept of attributable fraction in exposed (AFE) can be used to evaluate the likelihood that the defect pattern among infants with a particular exposure is attributable to the exposure. This quantity is related to the strength of the epidemiologic association between the defect pattern and the exposure, as measured in terms of relative risk R (or odds ratio), and is equal to (R‐1)/R. Even for strong teratogens such as maternal diabetes and isotretinoin, where R is about 7, in more than 14% (1‐AFE) of exposed infants with birth defects, the pattern of defects is not attributable to the exposure. Furthermore, AFE can be used to “correct” crude measures of sensitivity (the proportion of exposed malformed infants with a defect pattern attributable to the exposure) and positive predictive value (the proportion of malformed infants who have the exposure and have the defect pattern attributable to the exposure). These concepts can be useful adjuncts to the quantitative evaluation of patterns of birth defects associated with suspected human teratogens.
De novo inv(2)(p21q31) associated with isolated bilateral microphthalmia and cataracts
Authors: Weaver R. Grey , Rao Nagesh , Thomas Ioan T. , Pettenati Mark J. 
Published: June 2005

AbstractWe report on a patient with bilateral microphthalmia and unusual cataracts with a de novo pericentric inversion of chromosome (2)(p21q31). A literature review of previous as sociations of eye abnormalities and anomalies of chromosome 2 suggests probable gene locations for eye development.
Protocol for genetic testing in Huntington disease: Three years of experience in Minnesota
Authors: Nance Martha A. , Leroy Bonnie S. , Orr Harry T. , Parker Terry , Rich Stephen S. , Heston Leonard L. 
Published: June 2005

AbstractMolecular genetic testing for Huntington disease (HD) by linkage analysis of DNA markers close to the HD gene has been possible since the mid‐1980s. Because of ethical and practical concerns about this kind of testing, most groups performing the test in the past have operated under lengthy research protocols designed to assess the psychological morbidity of the presymptomatic diagnosis of a fatal disease. Our approach to HD testing is service‐oriented, and our testing process has been designed to be flexible, to meet the varying needs of our patients. Between 1988 and 1990, 87 inquiries about the test have been received; 22 inquiries had family structures which were unsuitable for linkage analysis. Eleven of the 37 individuals who entered the testing program have not completed it. Of 19 patients who have received DNA results, seven received an increased risk of carrying the HD gene, and ten, a decreased risk. For two additional individuals, nonpaternity resulted in a negligible risk for HD. Several of those consulted, or their spouses, have had continuing outpatient counseling since completing the test; none have required hospitalization. Our short‐term results indicate that molecular genetic testing for HD can be performed safely in a clinical setting using our protocol. As molecular genetic testing for HD and other diseases moves out of research centers and into clinics, clinicians must devise practical strategies for providing the medical, genetic, and psychological services needed for the growing number of individuals who will seek such testing.
Oculodentodigital dysplasia syndrome associated with abnormal cerebral white matter
Authors: Gutmann David H. , Zackai Elaine H. , McDonald‐McGinn Donna M. , Fischbeck Kenneth H. , Kamholz John 
Published: June 2005

AbstractOculodentodigital dysplasia (ODDD) syndrome is an uncommon inherited disorder with eye and facial abnormalities, syndactyly, and defects in tooth enamel. Some of the previously reported patients with ODDD syndrome also manifested spastic quadriparesis. We describe a patient with sporadic ODDD syndrome referred for evaluation of progressive spastic paraparesis. Magnetic resonance imaging of the brain demonstrated abnormal white matter, which suggests an explanation for the observed spastic paraparesis.
Limb body‐wall complex in association with sirenomelia sequence
Authors: Tang Thomas T. , Oechler Herbert W. , Hinke David H. , Segura Annette D. , Franciosi Ralph A. 
Published: June 2005

AbstractLimb body‐wall complex and sirenomelia sequence are uncommon birth defects and their association is extremely rare. Their overlapping manifestations and their concurrence in our patient suggest that they share a common cause and belong to a group of pathologically closely related conditions. Embryonic vascular disruption may be a common pathogenesis in both anomalies.
Neu Laxova syndrome in two Egyptian families
Authors: Meguid Nagwa Abdel , Temtamy Samia A. 
Published: June 2005

AbstractWe report on 2 Egyptian girls from 2 families with 8 affected relatives, 4 in each family. The 2 propositae had unusual facial appearance, severe microcephaly, generalized edema, contractures of limbs, and generalized ichthyotic skin lesions. Findings in the present 2 patients were compared with those in previously reported cases of Neu Laxova syndrome. In our cases, consanguinity, affected sibs, and affected cousins were noted. Autosomal recessive inheritance and lethality are emphasized. A high frequency of the Neu Laxova syndrome in Egyptians is suspected as a result of the increased consanguinity rate.