bluuebunny/crossref_metadata_2025_split huggingface dataset:
Balanced translocation 12/13 and situs abnormalities: Homology of early pattern formation in man and lower organisms?
Authors: Wilson Golder N. , Stout J. Patrick , Schneider Nancy R. , Zneimer Susan M. , Gilstrap Larry C. 
Published: June 2005

AbstractStudies in “lower” organisms have identified a set of homologous sequences expressed in oocytes and early embryos that is critical for pattern formation. Mutations in such genes may exhibit maternal effect—they cause abnormalities in the fetus only when present in the mother. We report on a mother and child with identical, apparently balanced translocations having the breakpoints 12q13.1 and 13p13. The fetus had multiple anomalies including bilateral trilobar lungs, complex heart defect, malrotation of the gut, and asplenia, while the mother was entirely normal. Several hypotheses are advanced to explain this variable expression including transection of a gene with maternal effect—lateral asymmetry in the fetus is influenced by the maternal genotype. This explanation would account for the higher transmission of congenital heart disease to offspring by affected females noted in several studies. The human counterparts of 2 loci (int‐1 and HOX 3) involved in Drosophila early pattern formation are located near the translocation breakpoint 12q13.1. If one of these genes is responsible for situs abnormality, then universality of positional code (but not of embryologic mechanism) is suggested for higher metazoans.
Rubinstein‐Taybi syndrome with de novo reciprocal translocation t(2;16) (p13.3; p13.3)
Authors: Imaizumi Kiyoshi , Kuroki Yoshikazu 
Published: June 2005

AbstractWe describe a girl with typical Rubinstein‐Taybi syndrome with apparently balanced reciprocal translocation between chromosome 2 and 16. The patient has a condition characterized by mental retardation, typical facial manifestations, broad thumbs and first toes. Cytogenetic studies of the patient showed a reciprocal translocation without visible deletion, karyotype: 46, XX, t(2;16) (p13.3; p13.3). Her parents had normal chromosomes. These results suggest that the locus of the gene for the Rubinstein‐Taybi syndrome may be situated at 2p13.3 or 16p13.3.
45,X/47,XYY mosaicism: Clinical discrepancy between prenatally and postnatally diagnosed cases
Authors: Pettenati M. J. , Wheeler M. , Bartlett D. J. , Subrt I. , Rao N. , Kroovand R. L. , Burton B. K. , Kahler S. , Park H. K. , Cosper P. , Kelly D. R. , Ranells J. D. 
Published: June 2005

Abstract45,X/47,XYY mosaicism is a rare chromosomal disorder with clinical information limited to 11 postnatal cases in the literature and with uncertainty regarding prenatal prediction of phenotype and prognosis. We report on 7 new cases of 45,X/47,XYY mosaicism, three detected prenatally and 4 diagnosed postnatally. A clinical comparison of the cases of 45,X/47,XYY mosaicism is presented together with a literature review.
Deletion of 20p 11.23→pter with normal growth hormone‐releasing hormone genes
Authors: Shohat M. , Herman V. , Melmed S. , Neufeld N. , Schreck R. , Pulst S. , Graham J. M. , Rimoin D. L. , Korenberg J. R. 
Published: June 2005

AbstractUsing a molecular analysis of the DNA from a patient with a deletion of chromosome 20 [46,XX,del(20)(p11.23)], we have excluded the growth hormone‐releasing hormone (GHRH) gene from the region 20p11.23→pter. The patient had minor facial anomalies, Rieger eye anomaly, a congenital heart defect, severe failure to thrive, and a neurosecretory problem in growth hormone (GH) secretion. Since the GHRH gene was previously mapped to chromosome 20, we used molecular genetic methods to determine whether the growth abnormalities were due to the deletion of this gene. DNAs of the patient and 2 normal control subjects were analyzed by quantitative Southern blotting using a DNA probe for the GHRH gene and 2 reference DNA probes mapping to chromosome 21. The GHRH gene was found to be present in 2 copies in the patient. This indicates that the gene for GHRH maps to the region outside the patient's deletion, in 20p11.23→qter. Furthermore, our results suggest that genes other than GHRH on 20p are important for developmental steps leading to normal neurosecretory function of GH and may also be involved in generating Rieger eye anomaly. Finally, GH deficiency and Rieger eye anomaly should be sought in other patients with deletions of 20p.
“Pseudomosaicism” for 4p – in amniotic fluid cell culture proven to be true mosaicism after birth
Authors: Vockley Jerry , Inserra JoAnn , Breg W. Roy , Yang‐Feng Teresa L. 
Published: June 2005

AbstractPseudomosaicism is noted in approximately 1% of amniotic fluid cell studies. Some represent numerical abnormalities, but pseudomosaicism for structural chromosomal abnormalities is also seen. Pseudomosaicism is not usually considered clinically significant. Recently, we evaluated a 13‐month‐old girl with developmental delay and minor anomalies suggestive of 4p – syndrome. In 5 of 100 peripheral lymphocytes, she had a deletion 46,XX,del(4)(p15). Review of a prenatal amniocentesis study performed on the mother of our patient disclosed that one colony of 18 examined from 2 in situ cultures had the same abnormality, whereas none of the 27 cells from a flask culture showed the abnormality. Results of this study had originally been reported as showing pseudomosaicism. To our knowledge, amniotic fluid pseudomosaicism of a structural abnormality has not previously been shown to reflect true mosaicism in fetal tissue or liveborn children. The actual incidence of this phenomenon is unknown, but it may be present in unexamined children with minimal clinical findings. Apparently only one previous case of mosaic 4p – in a liveborn individual has been reported.
Biochemical and genetic analysis of a child with cystic fibrosis and cystinosis
Authors: Smith Margaret L. , Pellett Ocean L. , Cahill Timothy C. , David Denise N. , Kaskel Frederick J. , Smolin Lori A. , Greene Alice A. , Weissbecker Karen , Dean Michael , Schneider Jerry A. 
Published: June 2005

AbstractWe have studied a child with cystic fibrosis (CF), nephropathic cystinosis, and manifestations of Bartter syndrome, a finding reported previously in both of these diseases (CF and cystinosis). The chance of an individual inheriting a mutant allele for both CF and cystinosis from each of his parents by independent segregation is very small. Therefore, other mechanisms of inheritance were investigated, including whether his diseases were caused by a chromosome deletion or rearrangement that caused defects in both genes, whether his phenotype was caused by a new mutation or variant of either disease, or whether both diseases were inherited together due to inheritance of 2 copies of the same chromosome from one of the parents (uniparental disomy). An investigation was made of whether having mutations for both CF and cystinosis resulted in a different phenotype for either disease and whether the child was a heterozygote rather than a homozygote for one of the mutations. The results suggest that neither disease influenced the expression of the defect in the other and that this child inherited a mutant allele for both diseases independently from each parent.
Unique phenotype associated with a pericentric inversion of chromosome 6 in three generations
Authors: Wenstrom Katharine D. , Muilenburg Ann C. , Patil Shivanand R. , Hanson James W. 
Published: June 2005

AbstractWe observed a pericentric inversion of chromosome 6 in three generations of one family. Carriers had several phenotypic alterations including congenital cataracts, hearing loss, dental anomalies, ear anomalies, premature graying, unilateral strabismus, coloboma, and mild mental retardation. These manifestations may all be explained by a failure or delay in development of tissues derived from neural crest cells and are similar to these seen in the Rieger syndrome. The description of this family extends the known phenotypic abnormalities associated with alterations of chromosome 6.
Prenatal lesions in an ovine fetus with GM1 gangliosidosis
Authors: Murnane Robert D. , Wright Raymond W. , Ahern‐Rindell Amelia J. , Prieur David J. 
Published: June 2005

AbstractSheep affected with ovine GM1 gangliosidosis are normal at birth and develop clinical signs, initially ataxia, commencing at approximately 5 months of age, which progresses rapidly to recumbency. Superovulation and embryo transfer techniques were applied to a flock of carrier sheep of ovine GM1 gangliosidosis to increase the numbers of carrier and affected animals. A recipient ewe with 3 at‐risk fetuses died at 4 months of gestation (normal ovine gestation is 5 months), and spectrofluorimetric assay of cerebral lysosomal β‐galactosidase of the fetuses showed that 2 were carriers and one was an affected fetus. The affected fetus had marked cytoplasmic enlargement and vacuolization of central and peripheral nervous system neuronal soma and of hepatocytes and renal epithelial cells. Lectin histochemistry indicated abnormal storage of complex carbohydrates, with terminal saccharide moieties consisting of β‐galactose, N‐acetylneuraminic acid, and N‐acetylgalactosamine. This case underlines the need for prenatal initiation of therapy and also demonstrates that vacuolization alone is not the cause of clinical signs in this lysosomal storage disease in that clinical signs do not commence until at least 5 months after vacuolization is histologically apparent.
X‐linked syndrome: Mental retardation, hip luxation, and G6PD variant [Gd(+) Butantan]
Authors: dos Santos R. C. Stocco , Barretto O. C. O. , Nonoyama K. , Castro N. H. C. , Ferraz O. P. , Walter‐Moura J. , Vescio C. C. S. , Beçak W. 
Published: June 2005

AbstractAn apparently new X‐linked syndrome is presented. It occurred in four male first cousins. The main manifestations of this syndrome are severe mental retardation, bilateral congenital hip luxation, and short stature. Three of the affected males showed a new glucose‐6‐phosphate dehydrogenase variant.
Correlation of phenotypic and genetic heterogeneity in cystic fibrosis: Variability in sweat electrolyte levels contributes to heterogeneity and is increased with the XV‐2c/KM19 B haplotype
Authors: Witt Michal , Erickson Robert P. , Ober Carole , Howatt William F. , Farber Rosann 
Published: June 2005

AbstractWe have reinvestigated a classification of clinical heterogeneity among cystic fibrosis (CF) patients that we previously reported and investigated the possible relationship of the identified CF subgroups to haplotypes around the CF gene and to HLA‐DR haplotypes. Age‐corrected values for sweat electrolytes, rate of progression of lung disease as assessed by Brasfield chest x‐ray scores, and severity of pancreatic insufficiency as assessed by daily supplemented enzyme dosage were obtained for 55, 59, and 59 patients, respectively. XV‐2c and KM19 RFLPs were determined by hybridization to TaqI and PstI digests of human genomic DNA, respectively, and analysis of mutations by PCR amplification followed by allele‐specific oligo‐deoxy‐nucleotide hybridization was performed for 29 patients. HLA‐DR restriction fragment length polymorphisms (RFLPs) were determined by hybridization of cDNA β1 and genomic DQα probes to TaqI digests of human genomic DNA. The results show that the previous subdivision on the basis of age‐corrected levels of sweat electrolytes, as well as measures of severity of lung disease and pancreatic disease, is valid. In addition, the C and D haplotypes are associated with lower age‐corrected sweat sodium level. No significant relationship between CF haplotypes and the other two disease variables or between HLA‐DR haplotypes and any of the clinical variables was found.
Cardio‐Facio‐cutaneous (CFC) syndrome: Report of two patients without hyperkeratotic skin lesions
Authors: Matsuda Yukihisa , Murano Ichiro , Kondoh Osamu , Matsuo Kiyosato , Kajii Tadashi 
Published: June 2005

AbstractWe report on two boys with the cardio‐facio‐cutaneous (CFC) syndrome, but without hyperkeratotic skin involvement. They showed most of the manifestations of the CFC syndrome: growth and developmental retardation, relative macrocephaly, distinct facial appearance, sparse hair, and heart defects. Their skin was not hyperkeratotic, but patient 1 had mild atopic dermatitis and keloid‐like depigmented spots.
Estimating genetic influences on the age‐at‐menarche: A survival analysis approach
Authors: Meyer Joanne M. , Eaves Lindon J. , Heath Andrew C. , Martin Nicholas G. 
Published: June 2005

AbstractA survival analysis regression model is described for analyzing twin data on the age‐at‐menarche. The model includes latent genetic and environmental covariates and allows one to test hypotheses regarding the nature of familial aggregation for age‐at‐onset. Additionally, the model accommodates a variety of baseline survival distributions and therefore may be used to test different developmental hypotheses. Model‐fitting results indicate that a survival model with a baseline gamma distribution gives an adequate fit to recalled age‐at‐menarche of 1,888 pairs of Australian female monozygotic and dizygotic twins. Further, results show that additive genetic and dominance genetic effects contribute to shared variation in age‐at‐menarche. If there are common environmental influences on the timing of menarche, they are completely obscured by nonadditivity in genetic factors, and information from other relationships would be required to detect their effect.
Presymptomatic, prenatal, and exclusion testing for Huntington disease using seven closely linked DNA markers
Authors: Skraastad Mette I. , Verwest Aart , Bakker Egbert , Vegter‐van der Vlis Maria , van Leeuwen‐Cornelisse Inge , Roos Raymund A. C. , Pearson Peter L. , van Ommen Gert‐Jan B. 
Published: June 2005

AbstractPresymptomatic testing, prenatal diagnosis, or exclusion testing are now available for persons at risk for Huntington disease. These tests will reduce uncertainty, assist in life planning, and prevent the birth of potentially affected children. We present the results of presymptomatic tests for 37 applicants including two prenatal and one exclusion test in 23 families. We initially used the markers G8, H5.52, F5.53, and pTV20 (D4S10), p8 (D4S62), and pRB1.6 (D4S81) and extended the informativity of the test at a later stage with the markers pKP1.65, C4H, S1.5 (D4S43), 674 (D4S95), 157.9 (D4S111), and YNZ32 (D4S125). Applicants with an unsuitable family structure were not admitted to the test. Of the 37 applicants, 33 were informative.In our hands the most efficient strategy is first to use the markers H5.52 (D4S10), pRB1.6 (D4S81), 674 (D4S95), pKP1.65 (D4S43), 157.9 (D4S111), YNZ32 (D4S125), and 252.3 (D4S115). The overall informativity in our data set was 84% and in the most recent test we achieved a 90–95% informativity. The other markers are used only when the first set is not informative.
Short rib syndrome Beemer‐Langer type with polydactyly: A multiple congenital anomalies syndrome
Authors: Yang S. Samuel , Roth Joel A. , Langer Leonard O. 
Published: June 2005

AbstractA male fetus with short rib (polydactyly) syndrome, Beemer‐Langer type was aborted at 30 weeks' gestation because of abnormalities visualized on sonography. This is the first documented case with polydactyly in this recently defined entity. The clinical, radiological, and pathological findings, especially of the bones, are described. The differential diagnosis of this entity is discussed.
Beemer‐Langer syndrome with manifestations of an orofaciodigital syndrome
Authors: Lin Angela E. , Doshi Nalini , Flom Lynda , Tenenholz Beverly , Filkins Karen L. 
Published: June 2005

AbstractWe report on an infant girl with hydrops, macrocephaly, high forehead, flat face, hypertelorism, broad nasal bridge, median cleft lip and alveolar ridge, grooved palate, accessory frenula, small tongue, milia, severe rib and limb shortness, brachydactyly, talipes equinovarus, Dandy‐Walker malformation, accessory spleen, unfixed mesentery, ectopic pancreas, and renal cysts. This patient resembles seven previously reported patients with the Beemer‐Langer syndrome, a distinct lethal short rib syndrome characterized by hydrops, markedly short ribs and limbs, median cleft lip with or without cleft palate, flat face, and macrocephaly. Polydactyly is usually absent. Our patient's oral anomalies suggest an orofaciodigital syndrome, but the severe rib and limb shortness distinguish it from those disorders.
Duplication of the distal part of the long arm of chromosome 1
Authors: Johnson Virginia P. 
Published: June 2005

AbstractA case of dup(1)(q42 → qter) is reported. A literature review of duplication of the distal third of chromosome 1 with breakpoints at various sites, 1q23, 1q25, 1q32, and 1q42, was undertaken. Clinical similarities and differences based on the size of the duplicated segment and other associated deficiencies are summarized.
New clinical aspects of hereditary mucoepithelial dysplasia
Authors: Urban M. D. , Schosser R. , Spohn W. , Wentling W. O. , Robinow M. 
Published: June 2005

AbstractHereditary mucoepithelial dysplasia (HMD) is a multiepithelial disorder. It is transmitted as an autosomal dominant trait (McKusick: Mendelian Inheritance in Man—Catalogs of Autosomal Dominant, Autosomal Recessive, and X‐Linked Phenotypes, 8th edition. Baltimore: The Johns Hopkins University Press, pp 499, 1988).HMD is characterized by variable combinations of lesions of skin, hair, orificial mucosa, gingiva, eyes, and lungs. In some previously described patients, the corneal and pulmonary lesions were progressive and led to blindness, recurrent pneumonia, and/or premature death. On light microscopy, the lesion is characterized by dyskeratosis and, on electron microscopy, by a paucity of gap junctions and desmosomes.Here, we describe a new 5′generation kindred in which affected individuals had the same histologic characteristics but a some‐what different clinical spectrum and a more benign course. HMD should be considered in the differential diagnosis of childhood alopecia, follicular hyperkeratosis, keratoconjunctivitis, juvenile cataracts, gingival hyperemia, restrictive lung disease, and esophageal stenosis or webs.
Familial translocation 5;14 resulting in an unbalanced offspring
Authors: Park Jonathan P. , Edwards Matthew J. , Moeschler John B. , Marin‐Padilla J. Miguel , Berg Susan Z. , Wurster‐Hill Doris H. 
Published: June 2005

AbstractWe report on an infant with multiple congenital anomalies possessing a derivative 14 chromosome in excess of the normal complement, resulting from transmission of a familial t(5;14)(p13;q22). The proposita's phenotypically normal mother, mentally retarded half‐brother, and fetal sib are carriers of the apparently balanced translocation. Previous cases of similar familial t(5;14) are reviewed. The proposita's phenotype is characterized by failure to thrive, developmental retardation, cleft palate, congenital heart anomaly, abnormal hands and feet, unusual face with abnormal ears, and recurrent respiratory infections. The proposita died at age 9 months and postmortem examination showed multiple central nervous system, cardiopulmonary, gastrointestinal, and genital malformations. Our proposita's phenotype is attributable to contributions from both chromosomes and is consistent with the consequences of both the dup(5p) and dup(14q).
The Noonan‐CFC controversy
Authors: Neri Giovanni , Zollino Marcella , Reynolds James F. 
Published: June 2005

AbstractThe Noonan syndrome and the cardio‐facio‐cutaneous (CFC) syndrome have been described as phenotypically and genetically distinct entities. However, the resemblance between them led some authors to question the validity of this separation. We review available clinical evidence to support the opposite view, namely, that the Noonan and CFC syndromes are indeed distinct and separate conditions, both falling within the broad and causally heterogeneous spectrum of the Noonan/congenital lymphedema phenotype.
Historical study: Johann Gregor Mendel 1822–1884
Authors: Weiling Franz 
Published: June 2005

AbstractThe life and personality of Johann Gregor Mendel (1822–1884), the founder of scientific genetics, are reviewed against the contemporary background of his times. At the end are weighed the benefits for Mendel (as charged by Sir Ronald Fisher) to have documented his results on hand of falsified data.Mendel was born into a humble farm family in the “Kuhländchen”, then a predominantly German area of Northern Moravia. On the basis of great gifts Mendel was able to begin higher studies; however, he found himself in serious financial difficulties because of his father's accident and incapacitation. His hardships engendered illness which threatened continuation and completion of his studies until he was afforded the chance of absolving successfully theological studies as an Augustinian monk in the famous chapter of St. Thomas in Altbrünn (Staré Brno).Psychosomatic indisposition made Mendel unfit for practical pastoral duties. Thus, he was directed to teach but without appropriate state certification; an attempt to pass such an examination failed. At that point he was sent to the University of Vienna for a 2‐year course of studies, with emphasis on physics and botany, to prepare him for the exam. His scientific and methodologic training enabled him to plan studies of the laws of inheritance, which had begun to interest him already during his theology training, and to choose the appropriate experimental plant.In 1865, after 12 years of systematic investigations on peas, he presented his results in the famous paper “Versuche über Pflanzenhybriden.” Three years after his return from Vienna he failed to attain his teaching certification a second time. Only by virtue of his exceptional qualifications did he continue to function as a Supplementary Professor of Physics and Natural History in the two lowest classes of a secondary school. In 1868 he was elected Abbot of his chapter, and freed from teaching duties, was able to pursue his many scientific interests with greater efficiency. This included meteorology, the measurement of ground water levels, further hybridization in plants (a.o. involving the hawk week Hieracium up to about 1873), vegetable and fruit tree horticulture, apiculture, and agriculture in general. This involved Mendel's active participation in many organizations interested in advancing these fields at a time when appropriate research institutes did not exist in Brünn. Some of the positions he took in his capacity of Abbot had severe repercussions and further taxed Mendel's already overstressed system. The worst of these was a 10‐year confrontation with the government about the taxation of the monastery. Attempts to conciliate (a.o. by appointing Mendel first as Vice‐Director, then as Director of the Mora‐vian Mortgage Bank) did not alter Mendel's position.The recently‐dated genetic note‐sheet shows that Mendel was preoccupied with the interpretation of the results of his Pisum experiments till the end of his life.
Interstitial deletion of 4(q21q25) in a liveborn male
Authors: Rose Nancy C. , Schneider Adele , McDonald‐McGinn Donna M. , Caserta Christine , Emanuel Beverly S. , Zackai Elaine H. 
Published: June 2005

AbstractWe describe a liveborn male with a de novo deletion of 4(q21q25). The findings in this infant are compared with those of other 4q interstitial deletion patients with similar breakpoints. Given the reproducible findings including skull asymmetry, cardiac defects, renal cysts, “butterfly” vertebrae, as well as a particular dysmorphic face with developmental delay, there is evidence for an interstitial 4q deletion syndrome.