bluuebunny/crossref_metadata_2025_split huggingface dataset:
Uniparental Disomy and Genomic Imprinting in Humans
Authors: Schinzel A. 
Published: July 2016

Uniparental disomy (UPD), the inheritance of both homologues from one chromosome from the same parent, was first proposed in 1980 by Erik Engel [1] to be a potential cause of congenital developmental defects in hymans. First hints from the premolecular era towards its existence came from instances where a pericentric inversion was present on one homologue in a parent and on both in one offspring [2] and where there was transmission of an interhomologous Robertsonian translocation (of chromosome 22) from a healthy mother to healthy offspring [3-4]. In mice, UPD was experimentally produced by crossing two mice lines with different Robertsonian translocations both involving the same chromosome [for 2 review see ref. 5].Through this approach, it was possible to define imprinted regions, chromosomes and chromosomal segments for which either maternal or paternal or both types of uniparental disomy led to phenotypic abnormalities. The latter are explained by genomic imprinting, the differential silencing of a gene or genes from one of the parents (the mother or the father) during any stage of embryogenesis or later in life. If, for example, the maternal homologue of a given gene is imprinted (and hence only the paternal allele is active), maternal UPD would lead to loss of the active allele and thus might cause consequences due to loss of function.
Combined Molecular and Cytogenetic Analysis for the Rapid Diagnosis of Fragile X Syndrome
Authors: Mastellone C. Bussani , Uzielli M.L. Giovannucci , Grasso M. , Chiurazzi P. , Neri G. , Wang Q. 
Published: July 2016

AbstractThe fragile X mutation is the result of an abnormal expansion of a CGG repeat sequence in the FMR-1 gene.Molecular techniques enable the detection of the mutation and also of the exact length of this DNA sequence, allowing the classification of the tested subjects as normal, carrier or affected.We propose a protocol of analysis that combines a method of non-radioactive PCR, Southern blotting and cytogenetic testing.This protocol can be used for screening programme of selected groups of mentally retarded individuals and for prevention studies in families at risk.
The Mouse Xist Gene: a Model for Studying the Gametic Imprinting Phenomenon
Authors: Zuccotti M. , Monk M. 
Published: July 2016

In mammals, normal embryonic development requires differential genomic imprinting of male and female gametes [1, 2]. Many investigations have been directed towards the understanding of the molecular mechanisms of imprinting and the timing of establishment of the imprint during gametogenesis and its erasure during development.Methylation is the focus of many of these studies as it has been known for some time that this epigenetic modification of the DNA correlates with the status of gene activity. So far, five imprinted genes, expressed from only one of the parental alleles, have been found to be differentially methylated in somatic tissue: mouse Igf2 [3] and Xist [4] and human SNRPN [5, 6] expressed from the paternal allele; mouse Igf2r [7] and H19 [8, 9] expressed from the maternal allele. However, so far, a gametic methylation imprint has been detected for only two of these genes: in an intron region of mouse Igf2r [7], and in the promoter region [10] and the first exon [11] of the Xist (X-inactivation-specific transcript [12, 13] gene.The data accumulated for the Xist gene, during different phases of gametogenesis and development, provides the most comprehensive story about the role of methylation as a primary gametic imprint, and on the timing of its establishment during gametogenesis and erasure during development. Methylation studies have now been performed during oogenesis and spermatogenesis [Norris et al., 1994; 11] and in mature gametes and during early stages of development [10, 11]. In addition, expression of the gene has been described during gametogenesis [14-16] and throughout early development [4-17].
Is Genomic Imprinting Involved in the Pathogenesis of Hyperdiploid and Haploid Acute Lymphoblastic Leukemia of Childhood?
Authors: Haas O.A. 
Published: July 2016

Hyperdiploidy with a chromosome number between 51 and 65 and a mean peak at 55 occurs as a distinct karyotype pattern in approximately 25-30% of ALLs in childhood [1, 2]. It is considered a favorable prognostic factor. The most intriguing cytogenetic peculiarities of these leukemias are the nearly exclusive presence of nonrandom numerical abnormalities due to the gain of chromosomes 4, 6, 10, 14, 17, 18, 20, 21 and X [1, 2]. In contrast, chromosomes 1, 2, 3, 12 and 16 are rarely involved [1, 2]. Typically, the affected chromosomes are present in three copies, with chromosome 21 also often being tetrasomic.Near-haploid cases, on the other hand, are extremely rare and have a bad prognosis [1, 2]. They contain at least one copy of each chromosome, a second copy of one of the sex chromosomes and both chromosomes 21 in most instances. In addition, two copies of chromosomes 10, 14 and 18 are commonly found.In the majority of cases of hyperdiploid ALL, the mechanism leading to the increased number of chromosomes is unknown. However, once formed, the abnormal karyotype is uniform and stable in the malignant cell population. Molecular genetic studies performed by Onodera et al. [3] revealed that the hyperdiploid karyotype usually arises by a simultaneous event during a single abnormal cell division from a diploid karyotype. Occasionally, this can also occur by doubling of the chromosomes from a near-haploid karyotype [4]. In virtually all cases, tetrasomy of chromosome 21 was generated by a duplication of both the maternally and paternally derived homolog. This finding was one of the main arguments for the notion that hyperdiploidy cannot be caused by stepwise or sequential gains from a diploid karyotype or by consecutive losses from a tetraploid karyotype.
No Evidence for Genomic Imprinting in Liver-Born Down Syndrome Patients
Authors: Stoll C. , Alembik Y. , Dott B. , Feingold J. 
Published: July 2016

AbstractDespite numerous studies, the clinical heterogeneity of Down syndrome has no explanation. We have attempted to investigate the role of genomic imprinting in the phenotype of liveborn Down syndrome patients. Hundred fifty eight patients were investigated for parental origin of the extra chromosome 21 with standard cytogenetic analyses and with DNA plymorphic markers. The extra chromosome 21 was of paternal origin in 8 cases and of maternal origin in 150 cases.The phenotype of Down svndrome patients in whom the nondisjunction was of maternal origin, was not different from the phenotype of Down syndrome patients in whom the nondisjunction was of paternal origin.We conclude that imprinting may probably not play a role in the heterogeneity of Down syndrome phenotype.
3-M Syndrome Clinical Phenotype is Still the Only Mean for Prenatal and Postnatal Diagnosis
Authors: Lapi E. , Cecconi A. , Uzielli M.L. Giovannucci , Salfi N. , Guarino L. 
Published: July 2016

In 1975, Miller, McKusick, Malvaux et al. reported a new form of low-birth weight dwarfism with normal intelligence, later called 3-M syndrome (after the initials of the first three authors). As of 1994 about 30 cases have been reported from different ethnic groups. The recurrence of the syndrome in sibs, with normal parents, provides evidence for an autosomal recessive disorder (MIM *273750). Diagnostic criteria are: prenatal onset dwarfism, dolicocephaly, joint hypermobility, slenderness of the shafts of the long bones and ribs and foreshortening of lumbar vertebral bodies, abnormal small pelvis, short femoral necks and vertical talus.We report the occorrence of 3-M syndrome in two new unrelated families; the long follow-up offers important subjects for discussion.In the first family the proposita at birth showed a Larsen-like phenotype with flat face, very short stature and generalized joint hypermobility. The clinical aspects greatly changed in the years and we were able to give the diagnosis of 3-M syndrome when she was 15 years old.In the second family the propositus was a boy, showing obvious features since his birth: mild joint hypermobility, omphalocele, bilateral inguinal hernia and macrocephaly. At the age of 7 years the phenotype is still highly significant.Two subsequent fetuses in the same sibship have been demonstrated affected by 3-M syndrome. The diagnosis was made after the 20th gestation week by means of ecography, and was confirmed after the termination, by both clinical and X-ray examination. Fetal parameters were not significant in the earlier stages of gestation. Of special interest are some-radiological aspects in both parents, whose stature is in the low normal range.A search in the church registry, going back to 1704, revealed no parental consanguinity, but the same family name is present in both paternal and maternal pedigrees.
Late Cytogenetic Changes after Treatment of Malignancy
Authors: Koblík J. , Demočková J. 
Published: July 2016

A 30-year-old man with azoospermia was routinely investigated in the Department of Clinical Genetics at our hospital. His karyotype was analysed after phytohaemagglutinin stimulation of lymphocytes following short-term cultivation of peripheral blood.Taking his history, it was ascertained that in childhood, Hodgkin's disease had been confirmed histologically. He began treatment at 7 years, receiving several series of combined cytostatic treatment supplemented with X-ray therapy. The patient's history is summarized in table 1.For the last 14 years, the patient has felt well. He is not taking medication and has no problems with primary disease. He is examined by an oncologist twice a year (including scintigraphy) with negative findings. He has no complications, except for azoospermia.The karyotype was analysed using standard methods. The chromosomes were stained by Giemsa following G-banding by the trypsin method.
Diagnosis and Prevention of Fragile-X Syndrome. From the Family Study to the Population Screening Programme: Eighteen Years of Activity
Authors: Uzielli M.L. Giovannucci , Guarducci S. , Cecconi A. , Lenzi S. , Ricci U. , Balestrieri C. , Petrocelli P. , Lapi E. 
Published: July 2016

Fragile-X syndrome, which derives its name from the expression of a fragile site (FRAXA) at Xq27.3 associated with the phenotype, has achieved distinction as the most common inherited cause of mental retardation. It is the first disorder shown to be due to dynamic mutation in heritable instable DNA.In 1991 the mutation responsible for Fragile-X syndrome was delineated as an expansion of the trinucleotide (CGG) sequence within an evolutionarily conserved gene, at the position of the fragile-X site.The DNA of the promoter in the 5' UTR region of FMR-1 gene becomes abnormally methylated when the CGG sequence exceeds approximately 230 repeats, resulting in the transcriptional suppression of FMR-1. Based on the length of CGG repeat in the FMR-1 gene, the alleles are usually classified as normal, premutation or full mutation. CGG instability correlates with the length of repeats and number of AGGs within the FMR-1 CGG tract. In a minority of cases the Fragile-X syndrome may be due to deletion, or to point mutation in the FMR-1 gene.
Sad Fetus Syndrome - Gestational Trophoblastic Disease Concurrent with a Living Fetus or Fetuses
Authors: Malinowski W. , Biskup I. , Dec W. 
Published: July 2016

AbstractThe term gestational trophoblastic disease is used to indicate a group of both benign and malignant trophoblast, including molar degeneration of villi, hydatid mole, invasive mole and choriocarcinoma.This study shows a new classification of trophoblastic disease existing with a living fetus or fetuses. Benign hydatid mole is the initial stage of the disease continuum, whereas highly malignant choriocarcinoma is the final stage of this spectrum.
Ovarian Hyperstimulation Syndrome May be More Likely if Multiple Pregnancy Occurs Following Assisted Conception
Authors: Mathur R. S. , Joels L. A. , Jenkins J. M. 
Published: July 2016

AbstractWhereas modern assisted conception with such techniques as in vitro fertilisation now helps many subfertile couples to fulfil their ambition to have a child, it has not been without a price. The increased incidence of multiple pregnancies, with their attendant maternal and perinatal sequelae following assisted conception is well known, but perinatologists may be less familiar with the Ovarian Hyperstimulation Syndrome (OHSS) which is the other major complication when controlled ovarian hyperstimulation is used during assisted conception treatment. Mild forms of OHSS are common and require no more than symptomatic treatment. Severe forms of OHSS are uncommon occurring in 0.6% to 14% of IVF cycles [15, 5], but are nonetheless very important to identify as they may lead to thrombo-embolic disease, cardiorespiratory dysfunction, renal failure and even death [6]. This review considers whether OHSS may be related to multiple pregnancy by reviewing the available literature and local experience.
Heredity and Environment in Phoneme Articulation: Hereditary and Environmental Contributions to Articulation Proficiency
Authors: Dixon W. E. , Matheny A. P. , Mohr S. R. 
Published: July 2016

AbstractLarge twin samples and recent applications of multiple regression techniques to behavioral genetics methodology makes possible evaluation of genetic and environmental contributions to the articulation proficiency of individual phonemes. Factor analysis of the articulation scores from 256 MZ and DZ twins and 124 of their non-twin siblings (all children ranged from 2; 11 to 9; 8 years) were conducted to reduce a 50-item articulation test to a more manageable set of five articulation factors. The twins' factor scores were then analyzed using multiple regression procedures to determine the extent to which the individual factors resulted from genetic and/or environmental influences. The /r/ and /∫, t∫, dƺ/ factors were found to have strong genetic components, while the /l, j, w/ factor was found to be strongly influenced by environmental sources of variation.
Problématique de l'Activité Cognitive des Jumeaux
Authors: Bak F. 
Published: July 2016

RésuméCette étude nous a permis de mettre à jour les différents modes d'intéractions qu'une mère établit avec ses jumeaux, ainsi que les évolutions possibles qui en résultent. Mais, bien plus, nous avons modélisé la façon dont les jumeaux élaborent leurs structures de l'activité de connaissance en fonction des sollicitations du milieu, ainsi que l'interdépendance qui les caractérisent.Grâce à des examens opératoires, réalisés sur une population de 14 couples âgés de 6 a 10 ans, nous avons mis à jour un décalage intra-couple au niveau de la genèse de ces mêmes structures de l'activité de connaissance. Nous nous sommes apercus que sur le plan de la genèse de l'organisation cognitive l'un des enfants a développé des structures figuratives, et l'autre des structures opératives lui permettant d'avoir une connaissance de la réalité plus étendue.Les liens de dépendance, de fusion, unissant les jumeaux entre eux, pourraient être dus à un développement cognitif parasitaire. Ils génèrent un lien gémellaire à partir de défaillances structurales qui vont apparaître chez chacun d'eux, ce qui ne permet aucunement leur autonomisation réciproque.Puisque des déficiences apparaissent dans les structures de l'activité de connaissance de ces enfants, les problèmes qu'ils recontrent pourraient trouver leur solution dans une remédiation cognitive opératoire.
MZ Female Twins Discordant For X-Linked Diseases: A Review
Authors: Tiberio G. 
Published: July 2016

AbstractThe 20 reported cases of MZ female twins discordant for X-linked diseases are reviewed. In such twins the X-inactivation pattern is opposite skewing (abnormal allele inactivated in most cells of the normal twin, and normal allele inactivated in most cells of the affected twin) or skewing in one twin and random in the cotwin. The diseases involved map in two specific regions: Xq27-28 and Xp21. The only exceptions are Fabry's disease and Aicardi's syndrome, which map in Xq22 and Xp22 respectively. No concordant MZ female carrier twins, either normal or affected, have been described. Three main hypotheses have been proposed to explain such characteristics [2, 5, 14], but none is completely satisfactory. The constant discordance for X-linked diseases in MZ female twins has important consequences for genetic counselling.
Multiple Births and Congenital Anomalies in Tokyo Metropolitan Hospitals, 1979-1990
Authors: Kato K. , Fujiki K. 
Published: July 2016

AbstractThe rate of multiple births and the incidence of congenital anomalies in Tokyo Metropolitan Hospitals were studied during the period 1979-1990. The number of twins was 968 pairs (8.23 per 1,000 deliveries) and of triplets 18 sets (15.3 per 100,000 deliveries) among 117,672 deliveries including 1,587 stillbirths after 16 weeks gestation. Multiple birth rates increased yearly. Stillbirth rates in twins and triplets were 5.5% and 16.7% respectively, which were both significantly higher than that in singletons (1.3%). The number of congenital anomalies was 42 in 1,936 twins (2.17%), 2 in 54 triplets (3.7%) and 1721 in 116,686 singletons (1.47%). The most common defects in twins were those of the cardiovascular system (0.72% in twins vs 0.52% in singletons) and of the musculoskeletal system (0.72% in twins vs 0.50% in singletons), followed by upper respiratory tract and/or mouth conditions (0.67% in twins vs 0.35% in singletons), all of which had no significant difference in frequency between twins and singletons. Though some anomalies had a significantly higher frequency in twins than in singletons, the concordance rate in the like-sexed twins was very low.
Effects of Early Mother-Twin Relationships from Birth to Age 3, on Twin Bonding
Authors: Robin M. , Kheroua H. , Casati I. 
Published: July 2016

AbstractFindings from an earlier phase of this research project clearly pointed to the mother's psycological adaptation inherent to the specificities of triadic interaction. Mothers' attitudes were classified in a typology ranging from “early twinness” where the two babies are treated as though they were a single unit, to attempts to create two dyadic relationships. The current program deals with the effects of the type of parent-child relationship at one year on the emergence of twin bonding. Sixty-eight families of twins (26MZ, 24DZ same sex, 18DZ different sex) are followed up from birth to the age of 3 using a method based on clinical interviews, videotaped observations, and questionnaires. The data cover mothers' rearing attitudes towards organization of babycare and outward signs of twinness, maternal representations of the relationship between the twins and observation of the children's interaction in a standardized game situation. The findings are discussed in terms of zygosity, and parental SCS.
Perinatal Mortality and Prevalence of Major Congenital Malformations of Twins in Taipei City
Authors: Chen C.J. , Wang C.J. , Yu M.W. , Lee T.K. 
Published: July 2016

AbstractIn order to examine perinatal mortality and prevalence of major congenital malformations in twins, deliveries in four teaching hospitals in Taipei City were studied. Among a total of 73,264 deliveries from October 1985 to June 1989, there were 844 pairs of twins. The zygosity of the twin pairs was determined by sex, placentation and 12 red blood cell antigens. There were 482 MZ and 252 DZ twin pairs identified, but the zygosity of a further 110 twin pairs was indeterminable due to lack of information on plancentation and/or blood types. A total of 4,573 singletons delivered in one study hospital from July 1986 to June 1987 were also studied as controls. The perinatal mortality rate was 7.5% for MZ twins, 1.4% for DZ twins, and 0.7% for singletons. The concordance rate of perinatal death was significantly higher in MZ (60%) than in DZ (0%) twins. The prevalence of major congenital malformations was 2.7% for MZ twins, 1.0% for DZ twins, and 0.6% for singletons. The concordance rate of major congenital malformations was 18% for MZ twins, but no DZ pair was concordant in any major congenital malformation. The concordance rate of facial clefts was 29% for MZ twins. There were 2 sets of conjoined twins giving a prevalence rate of 2.7 per 100,000 deliveries. These findings showing the prevalence of perinatal mortality and major congenital malformation to be highest in MZ twins, intermediate in DZ twins and lowest in singletons, suggest the importance of intrauterine environments in the determination of perinatal mortality and congenital malformations.
Northwestern University Twin Study X: Outcome of Twin Gestations Complicated by Gestational Diabetes Mellitus
Authors: Keller J.D. , Utter G.O. , Dooley S.L. , Minogue J.P. , Keith L.G. 
Published: July 2016

AbstractExisting data concerning the effect of gestational diabetes on perinatal outcome in twin pregnancies is scant. We hypothesized that altered carbohydrate metabolism would worsen perinatal outcome in twin gestation in a manner similar to singleton gestation. Thirteen twin pregnancies complicated by gestational diabetes mellitus were matched by gestational age at delivery to 13 twin pregnancies unaffected by gestational diabetes. Comparing infants of diabetic mothers to infants of control mothers, there was a trend of greater likelihood of respiratory distress syndrome, hyperbilirubinemia, and prolonged neonatal intensive care nursery admissions. Our experience suggests that altered carbohydrate metabolism in multiple gestations increases the potential for neonatal morbidity.
Efficient Sequential Search of Genetic Systems for Diagnosis of Twin Zygosity
Authors: Chaudhuri A.B. Das 
Published: July 2016

AbstractConventionally, the zygosity of twins into monozygotic (MZ) and dizygotic (DZ) is determined by utilizing several blood groups or other genetic markers. Existence of many blood groups or other genetic markers raises the crucial problem of choosing minimum number of blood groups and applying them in a sequence with minimum cost offering maximum effectiveness in classifying the twins by zygosity. In this note, a statistical approach to this problem is made and a solution provided. The efficient sequential search procedure utilizing the gene frequency of four blood groups from the German population of Nordrhein-Westfalen province and applying the results to a twin set of 72 pairs (32 MZ and 40 DZ) of the same population indicates that efficient sequences with 3 and 4 blood groups are AB0→P→Rh and AB0→P→Rh→MNSs, respectively. Further, it is understood that the efficient sequence for zygosity determination will be differing from population to population. As gene frequencies of blood systems differ in the various populations, this will effect the probability that a DZ twin pairs is concordant for a specific marker. Moreover, the relative cost may also turn out to be a decisive factor in the determination of the best sequence. Hence, indiscriminate use of several conventional blood group systems in the determination of zygosity of twins from a particular population should be discontinued. The formulae developed in this note are quite general and the procedure explained can easily be generalized to other situations.
Surveillance of Triplets with Umbilical Artery Velocimetry Waveforms
Authors: Rafla N.M. 
Published: July 2016

AbstractDoppler arterial velocimetry waveforms was used as a method of antenatal surveillance for triplets. Six sets of triplet pregnancies were studied. Each fetus was identified by real-time-ultrasound scanning and the peak systolic/end diastolic (S/D) ratio was calculated. In one set of triplets two fetuses showed absent end diastolic flow. Both subsequently suffered from necrotising enterocolitis and had major bowel resection. The five other sets of triplets maintained a normal S/D ratio. Three had a normal outcome and two delivered prematurely.