bluuebunny/crossref_metadata_2025_split huggingface dataset:
“Acadian” and “classical” forms of Friedreich ataxia are most probably caused by mutations at the same locus
Authors: Keats Bronya J. B. , Ward Laura J. , Shaw Jacqui , Wickremasinghe Aranda , Chamberlain Susan 
Published: June 2005

Abstract“Acadian ataxia” is a form of Friedreich ataxia found in individuals of Acadian ancestry. It was described by Barbeau (in Sobue I (ed): Spinocerebellar Degeneration; Tokyo: Univ. Tokyo Press, pp 121‐142, 1980) as having a slower course of degeneration and less severe secondary symptoms than “classical” Friedreich ataxia. He suggested that these 2 forms of the disease may be distinct. The mutation causing “classical” Friedreich ataxia has recently been mapped to chromosome 9 through genetic linkage studies, and here we show that the locus causing Friedreich ataxia in Acadian families from southwestern Louisiana is tightly linked to the same DNA marker, D9S15. Thus, these 2 disorders, which may be differentiated clinically, are most probably due to mutation(s) at the same locus on chromosome 9.
A new lethal brittle bone syndrome with increased amount of type V collagen in a patient
Authors: Bonaventure Jacky , Zylberberg Louise , Cohen‐Solal Lola , Allain Jean‐Claude , Lasselin Catherine , Maroteaux Pierre 
Published: June 2005

AbstractA new lethal brittle bone disease is described in three patients with slender long bones, thin ribs, hypomineralized calvaria, and normal facial appearance. In spite of several limb fractures this syndrome can be differentiated from the lethal forms of osteogenesis imperfecta and is better related to the thin‐bone group of lethal dysplasias. Biochemical investigation of collagen from one of the patients by the use of gel electrophoresis and high‐pressure liquid chromatography analyses failed to demonstrate any evident defect in the structure of type I collagen chains. Nevertheless collagen extractability from the dermis was altered owing to an increase in the proportion of acid‐soluble material. Tritium‐proline labeling of cultured fibroblasts confirmed the reduction in total collagen synthesis. This was attributed to a lower type I and type III amount whereas type V collagen level was markedly increased in the cell layer. RNA analysis of the three collagen types with the appropriate cDNA probes confirmed the protein data.Electron microscopic examination of bone and skin showed morphologically abnormal fibroblasts and osteoblasts with an abundant distended rough endoplasmic reticulum and an altered plasma membrane. Unexpected thin fibrils with a banding pattern and surrounding the type I fibrils were observed. They might represent type V collagen. We suggest that, in this patient, the moderate decrease in type I collagen amount is insufficient to account for the radiological findings and that type V collagen overproduction could play a role in the bone brittleness by interfering with the process of mineralization.
Emerging phenotype of duplication (7p): A report of three cases and review of the literature
Authors: Milunsky Jeffrey M. , Wyandt Herman E. , Milunsky Aubrey 
Published: June 2005

AbstractHere we report on three patients with dup (7p) and review the previously published 17 cases. Characteristic manifestations include severe/profound psychomotor retardation, dolicho‐cephaly or microbrachycephaly, gaping fontanels and wide sagittal and metopic sutures, hypertelorism, large apparently low‐set ears, micrognathia, choanal atresia/stenosis, hyper‐extensible joints subject to dislocation, joint contractures, and a high rate of cardiac septal defects. Our analysis suggests that dup(7p) is associated with a recognizable characteristic phenotype.
Characterization of an unusual and complex chromosome 21 rearrangement using somatic cell genetics and cloned DNA probes
Authors: Van Keuren Margaret L. , Stewart Gordon D. , Bradley Cynthia M. , Kurnit David M. , Neve Rachael L. , Watkins Paul C. , Tanzi Rudolph E. , Gusella James F. , Patterson David 
Published: June 2005

AbstractIn a previous case of a newborn infant with typical Down syndrome, chromosome analysis indicated the presence of an unusual and complex translocation of chromosome 21. The patient's cells contained one normal chromosome 21 and a rearranged, F group‐sized submeta‐centric chromosome. This abnormal chromosome appeared to involve duplication of the distal portion of 21q with translocation to the short arm, and a deletion of C‐band‐positive centromeric heterochromatin. Using linearly ordered cloned DNA probes, we report the detailed molecular examination of this abnormal chromosome, which has been isolated on a hamster background in a hybrid cell line. Both short arm and pericentromeric sequences are present on this chromosome, as well as distal 21q sequences. However, a substantial portion of proximal 21q is deleted. The distal boundary of this deleted section can be pinpointed within the region between two loci (D21S8 and D21S54), a distance of about 5,000 kb. This study illustrates the power of using precisely mapped, linearly ordered DNA probes to characterize this type of rearrangement. In addition, this hybrid cell line can also be used as a member of a mapping panel to map DNA sequences regionally on chromosome 21.
Prenatal diagnosis of cystic kidney disease with ventriculomegaly: A report of six cases in two related sib ships
Authors: Reuss A , den Hollander J. C. , Niermeijer M. F. , Wladimiroff J. W. , van Diggelen O. P. , Lindhout D. , Los F. J. 
Published: June 2005

AbstractIn 2 consanguineous relationships, a Cape Verdian man fathered six fetuses (5 male) with fetal ventriculomegaly and echodense fetal kidneys as visualized by ultrasonography between 16 and 32 weeks.During prenatal monitoring, an increased alpha fetoprotein level and abnormal acetyl‐cholinesterase were detected at amniocentesis in 5 of 6 affected fetuses. Chromosomes were normal. Five pregnancies resulted in elective termination; one child was still‐born prematurely. Hydrocephalus and cystic disease of the (renal) cortico medullary areas were found. One fetus had polydactyly. The differential diagnosis and prenatal diagnosis of this presumably autosomal recessive syndrome are discussed.
Acromesomelic dysplasia: Radiologic, clinical, and pathological study
Authors: del Moral Rafael Fernández , Jiménez José M. Santolaya , González José I. Rodríguez , Vicario Ricardo Franco 
Published: June 2005

AbstractWe report a 51‐year‐old woman with aeromesomelic dysplasia. Pathologic studies on adult bone are reported. Hydrocephalus and mild oligophrenia are additional findings.
CFC syndrome: Report on three additional cases
Authors: Sorge Giovanni , Forti Filippo Di , Scarano Gioacchino , Ventruto Valerio , Zelante Leopoldo , Dallapiccola Bruno 
Published: June 2005

AbstractWe describe three patients, originating from three different Italian localities, affected by the cardio‐facio‐cutaneous (CFC) syndrome. In addition to a varying degree of mental retardation, these patients present characteristics consisting of a peculiar face with bitemporal frontal constriction and other anomalies involving the eyes, nose, ears, hair, skin, and heart that are consistent with this diagnosis.
Terminal deletion of the long arm of chromosome 10: Case report and review of the literature
Authors: Gorinati Marino , Zamboni Gaetano , Padoin Nadia , Dodero Andrea , Caufin Daniele , Memo Luigi 
Published: June 2005

AbstractWe report on a newborn girl with a terminal deletion of the long arm of chromosome 10: del (10)(pter→q26). The phenotypic manifestations are compatible with those of the previously reported cases. In addition, the association with abnormalities of the urinary tract is reported for the first time. A clinical and neurodevelopmental follow‐up is described up to age 18 months.
Poland anomaly in mother and daughter
Authors: Cobben Jan M. , Robinson Peter H. , van Essen Antonie J. , van der Wiel Herman L. , ten Kate Leo P. 
Published: June 2005

AbstractWe report on Poland anomaly in a mother and her daughter. Further family history was negative for abnormalities of the hands or the pectoralis major muscle. A review of published cases of familial Poland anomaly is presented. Implications concerning the possible etiology of familial cases of Poland anomaly are given.
Familial abdominal wall defects
Authors: Hershey Douglas W. , Haesslein Hanns C. , Marr Clifford C. , Adkins John C. 
Published: June 2005

AbstractWe report 2 families, each having multiple sibs with abdominal wall defects. In family 1, normal parents gave birth to identical (monochorionic, diamniotic) twins. This is the first reported case of gastroschisis occurring in monozygotic twins. In family 2, a normal mother gave birth to a son with omphalocele. Two subsequent pregnancies with a different husband resulted in a stillborn girl with partial atresia of the colon and a liveborn girl with gastroschisis. In neither case were there any associated anomalies. In neither of the 2 families was there consanguinity or history of other abdominal wall defects. The familial occurrence of these defects suggests that 1) multifactorial determination should be considered in at least some cases of abdominal wall defects, 2) the bowel atresias that occasionally accompany gastroschisis may also have a genetic (multifactorial) cause, and 3) some cases of gastroschisis and omphalocele may have the same genetic cause.
CAMFAK syndrome: A demyelinating inherited disease similar to Cockayne syndrome
Authors: Talwar Dinesh , Smith Stephen A. 
Published: June 2005

AbstractCAMFAK syndrome is an inherited disease characterized by congenital cataracts, microcephaly, failure to thrive, and kyphoscoliosis with onset in early infancy. Its pathogenesis has not been clearly defined. We report on a patient with this syndrome and present evidence that it is a neurologic disease characterized by peripheral and central demyelination similar to that seen in Cockayne syndrome.
Oliver McFarlane Syndrome: A 25‐year follow‐up
Authors: Sampson J. R. , Tolmie J. L. , Cant J. S. 
Published: June 2005

AbstractWe describe findings in a 29‐year‐old woman with Oliver McFarlane syndrome after 25 years of follow‐up, and we review findings in six other reported cases. Pigmentary retinal degeneration, trichomegaly, prenatal onset growth failure, anterior pituitary deficiencies, and peripheral neuropathy characterize the condition.
Dermatoglyphics in von Recklinghausen neurofibromatosis
Authors: Pallotta Rosanna , Carlone Gaetana , Petrucci Altea , Chiarelli Francesco 
Published: June 2005

AbstractWe studied dermatoglyphic traits in 27 patients (12 males and 15 females) with neurofibromatosis type I (NF‐1) to verify which characteristics may be considered typical of this disorder. The frequency of digital central pockets in the patients was significantly greater than in control individuals (P <.005), but when we evaluated the sexes separately, the difference was significant only among females (P <.002). The distribution of central pockets on the various fingers was significantly different in affected females, compared with normal controls, but only on fingers II (P <.05), IV (P.002), and V (P < .05). The quantitative finger tip pattern values and the total finger ridge count (TFRC) were always higher in the patients, as well as was the a–b ridge count. The latter was significantly increased only on the right hand in females (P < .01). Among the patients, the at̂d angle values were increased on both hands of females and on the right hand in males, whereas both the ulnar index A'‐d and the a‐t' ridge counts were diminished. The frequency of high endings (5′ or 5″) of line A was increased in NF‐1 patients on both hands. Like in previous investigations, our patients showed an increased number of secondary creases, limited to II degree according to Vormittag et al. [1986] (P < .048). Our results only partially confirmed prior data. Therefore, we think that there is no typical dermatoglyphic pattern in NF‐1 and that this parameter is not a diagnostic indicator in this disorder.
Holoprosencephaly and interstitial deletion of 2(p2101p2109)
Authors: Wilson William G. , Shanks Daniel E. , Sudduth Kathryn W. , Couper Kathy A. , McIlhenny Joan 
Published: June 2005

AbstractWe report on a girl with holoprosencephaly and a small, de novo interstitial deletion of most of band 2(p21). The similarity between the cytogenetic findings and CNS malformations in our patient and those recently reported by Münke et al. [Am J Med Genet 30:929–938, 1988] suggests a phenotypic relationship between deletion of this band and holoprosencephaly.
Perspectives on holoprosencephaly: Part III. Spectra, distinctions, continuities, and discontinuities
Authors: Cohen M. Michael 
Published: June 2005

AbstractThis paper attempts to balance our knowledge of holoprosencephalic spectra and continuities with important distinctions and discontinuities. Prevalence studies and syndrome delineation are briefly reviewed. The following topics receive detailed coverage: human teratogens, special aspects of forebrain and hindbrain malformations, aprosencephaly/atelencephaly, association with neural tube defects, current assessment of “facial principles,” and endocrine abnormalities.
BBBG syndrome or opitz syndrome: New family
Authors: Verloes Alain , Le Merrer Martine , Briard Marie‐Louise 
Published: June 2005

AbstractWe report on a family where the propositus had G syndrome, including laryngeal cleft, and another relative had the facial anomalies typical of the BBB syndrome.We review the literature on the BBB and G syndrome, and argue that no clinical or laboratory criteria permit a differential diagnosis of the two syndromes. Therefore, we suggest that they should be considered variable expression of the same gene. The name BBBG syndrome is proposed for the amalgamated syndrome.
Multiple malformations and exposure to therapeutic ultrasound during organogenesis
Authors: McLeod D. Ross , Fowlow S. B. 
Published: June 2005

AbstractWe present a case of sacral agenesis, microcephaly, and developmental delay. The pregnancy with this child was complicated by left psoas bursitis that was treated by 18 applications of ultrasound between days 6 and 29 of gestation.
Infantile hemangioendothelioma of the liver in patient with interstitial deletion of chromosome 6q: Report of an autopsy case
Authors: Ito Hisao , Yamasaki Takemi , Okamoto Osamu , Tahara Eiichi 
Published: June 2005

AbstractHere we report an infantile hemangioendothelioma of the liver that developed in a 6 month‐old boy with an interstitial deletion of chromosome 6q. His clinical manifestations included developmental delay, feeding problems, and multiple anomalies including microcephaly, hypertelorism, apparently lowset abnormal ears, prominent nasal bridge, cubitus valgus, overwrapping of fingers, cryptorchidism, and micropenis. He died abruptly at age 27 weeks from a perforating duodenal ulcer. Autopsy demonstrated atrial septal defect, microencephaly, and thymic atrophy. A solitary small tumor was found in the liver and diagnosed histologically as the infantile hemangioendothelioma, type 1. This is the first report of a del(6)q with infantile hemangioendothelioma.
Trisomy 18 at age 21 years
Authors: Smith A. , Field B. , Learoyd B. M. 
Published: June 2005

AbstractHere we report on a woman with non‐mosaic trisomy 18, who is now 21 years old. She has the characteristic face of older trisomy 18 survivors, marked kyphoscoliosis, spastic quadriplegia with contractures, and profound mental retardation. She has pyorrhea with loss of three canine teeth. At 20.5 years, she had her first menstrual cycle with development of secondary sexual characteristics.
Genetic hemochromatosis: Distribution analysis of six laboratory measures of iron metabolism
Authors: Borecki I. B. , Rao D. C. , le Mignon L. , Yaouanq J. , Simon M. , Lalouel J. M. 
Published: June 2005

AbstractSix laboratory measures of iron metabolism were studied in a control sample, and a family sample was ascertained on the basis of probands with clinically diagnosed genetic hemochromatosis. The respective distribution of each variable evidenced a mixture of components, presumably arising from the segregation of an HLA‐linked locus for hemochromatosis. There were significant differences in the distributional characteristics with respect to sex and genotype‐specific variances. These aspects of the data have important implications for subsequent segregation and linkage analyses, which traditionally assume homoscedasticity and homogeneity of the genetic effect.
Familial duodenal atresia: A report of two families and review
Authors: Best Lyle G. , Wiseman Nathan E. , Chudley Albert E. 
Published: June 2005

AbstractWe report on 2 families with recurrence of uncomplicated duodenal atresia. The presence of consanguinity in one family, the frequent occurrence of consanguinity in parents of affected children previously reported, and the equal sex ratio suggest autosomal recessive inheritance.
Interstitial deletion 2q14q21
Authors: Frydman Moshe , Steinberger Julia , Shabtai Fiorella , Katznelson Mariassa Bat‐Miriam , Varsano Itzhak 
Published: June 2005

AbstractA girl with multiple congenital anomalies and a tendency to severe pyogenic infections was found to have an interstitial deletion of chromosome band 2q14‐q21. Unusual facial manifestations included enophthalmos, long philtrum, micrognathia, narrow forehead, prominent glabella, and depressed nasal bridge. Unilateral corneal clouding, with Peters‐like anomaly; agenesis of the corpus callosum; brain atrophy; and heart, kidney, hand, and dermatoglyphic anomalies were additional findings. Eye anomalies were observed in five of 22 patients with deletions of chromosome 2q. In comparing these cases, it seems that deletions of bands 2q21 and 2q31 are variably associated with microphthalmia, corneal clouding, cataracts, and Peters anomaly. Measurement of protein C and interleukin‐1 (IL‐1) did not show a gene dose effect, but the pyogenic infections and low IgA found in this patient may reflect an abnormality of IL‐1 not detectable by our methods.
Inferring mode of inheritance by comparison of lod scores
Authors: Greenberg David A. 
Published: June 2005

AbstractOne usually must assume a mode of inheritance when using lod scores for linkage analysis. In this study, we asked the question, “If one assumed mode of inheritance in a linkage analysis gives a higher lod score than another, does that indicate that the mode of inheritance that led to the higher lod score is more ‘correct’ than the other?”We simulated data under a variety of penetrances, assuming either dominant or recessive inheritance. We then analyzed those simulated data under the correct mode of inheritance, assuming a range of penetrance values, and under the incorrect model, also assuming a range of penetrance values. We found that, if there was enough information for a maximum lod score of at least 3.0, assuming the correct penetrance value or mode of inheritance in the analysis led to a higher lod score than assuming the incorrect penetrance or the incorrect mode of inheritance. These results cannot yet be generalized outside of the specific modes of inheritance and penetrance combinations that we have modeled. Also, penetrance was modeled as “random.” The effect of “reduced penetrance” caused by other genetic factors has not yet been tested.We also tested the effect of non‐standard ascertainment on drawing conclusions about mode of inheritance from linkage data. Even when families were ascertained only if the family was multiplex (i.e., more than one affected sib), assuming the correct mode of inheritance gave a higher lod score than assuming the incorrect mode of inheritance.This method has the promise of both simplifying and expanding the application linkage analysis. The explorations reported here are, however, preliminary, and the method should be used with caution.
Significance of cardiovascular malformations in cystic hygroma: A new interpretation of the pathogenesis
Authors: Miyabara Shinichi , Sugihara Hajime , Maehara Norifumi , Shouno Hideaki , Tasaki Hakaru , Yoshida Keiji , Saito Nakamichi , Kayama Fumiyoshi , Ibara Satoshi , Suzumori Kaoru 
Published: June 2005

AbstractFetuses with cystic hygroma or loose skin of the neck were studied chromosomally and phenotypically to clarify the relation between neck abnormality and cardiovascular malformations. Of 12 fetuses, 9 had chromosome abnormalities:4 with 45,X,3 with trisomy 21, one each with trisomy 13, dup 6q. One had normal chromosomes. Two cases, in which chromosome analysis was unsuccessful, were morphologically suspected to be trisomy 13. Nine of the 12 fetuses had either bilateral cystic hygroma of the neck (7 cases) or nuchal bleb (2 cases: trisomy 13 and dup 6q). Two of the 3 remaining cases (trisomy 21) had loose skin of the neck, and one had edematous swelling of the skin of the neck. Except for the last case of trisomy 21, 11 fetuses (91.7%) had severe and/or rare cardiovascular malformations. They were divided into 3 major groups: a) spectrum of hypoplastic left heart syndrome (45,X and dup 6q), b) double outlet right ventricle, agenesis of semilunar valve (trisomy 13), and c) abnormality of atrioventricular orifice or valves (trisomy 21). One fetus with normal chromosomes had persistent left superior vena cava instead of absent right one and calcification of myocardium. Histological observation of edematous skin demonstrated the abnormal distribution of lymph vessels, including their absence. Some cases showed hypoplastic thymus. To integrate the findings of the present study and the descriptions in the literature, a pathogenesis is hypothesized in relation to migration of neural crest cells and extracellular matrix.
Adaptive behavior in the fra(X) syndrome: A longitudinal study in eight patients
Authors: Curfs Paul M. G. , Schreppers‐Tijdink Gerda A. J. , Wiegers Agnes M. , van Velzen Wim , Fryns Jean‐Pierre 
Published: June 2005

AbstractIn this study we investigated the development of adaptive behavior of 8 fragile X [fra(X)] males with special attention to social competence and compared the results with a control group of 8 fra(X) negative males matched for age, level of adaptive functioning, and period of institutionalization.
Molecular‐genetic study of Duchenne and Becker muscular dystrophies: Deletion analyses of 45 Japanese patients and segregation analyses in their families with RFLPs based on the data from normal Japanese females
Authors: Sugino Shigeto , Fujishita Satoshi , Kamimura Naohisa , Matsumoto Tadashi , Wapenaar Martin C. , Deng Han‐Xiang , Shibuya Noritoshi , Miike Teruhisa , Niikawa Norio 
Published: June 2005

AbstractThis study consisted of 1) molecular deletion analyses in patients with Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) using the entire cDNA for the DMD gene as hybridization probes, 2) RFLP analyses in a large number of Japanese normal women using 11 DMD‐linked cloned DNAs as probes, and 3) segregation analyses with these RFLP data in 17 DMD families in which prenatal or carrier diagnosis was required. The deletion study showed that 18 (43%) of 42 male DMD patients had a deletion within the DMD gene, while no detectable deletion was found in 3 BMD patients. These deletions were preferentially observed at the 5′ end of the DMD gene, while no deletion was found in the 3′ portion of the gene. Of a total of 15 RFLPs detected with the 11 probes, one was a new RFLP (probe/enzyme: P20/MspI). In 6 RFLPs, the allele frequencies in the Japanese were statistically different from those in the Caucasian. Based on the RFLP data combined with the result of the deletion study, an estimated diagnostic rate for prenatal diagnosis and/or carrier detection in the Japanese DMD families was 63%. The real diagnostic rate obtained from the prenatal and carrier diagnoses, which were practically performed in 17 families, corresponded to the estimation. A protocol useful for the diagnosis in Japanese DMD families is presented.