bluuebunny/crossref_metadata_2025_split huggingface dataset:
Aging gametes in relation to incidence, gender, and twinning in Down syndrome
Authors: Sharav Teresa 
Published: June 2005

AbstractSexual practices have been implicated in the causation of Down syndrome (DS). Two mechanisms have been hypothesized. The theory of the fertilisation of an overripe ovum due to a delay in fertilization, and more recently the aging of the sperm. The orthodox Jewish population have very specific, strict practices concerning menstruation, which provide a unique model for the study of births in relation to time of conception. Data on the incidence of DS in the Jewish population of Jerusalem between 1982 and 1988 were analyzed. Among a comparable group of mothers under age 37 years and for whom amniocentesis was not available, it was found that the incidence of DS was significantly higher in the religious than in the nonreligious population (P < 0.001). The rate of twinning in the DS population was significantly higher than in the general population (P < 0.015), as was the ratio of males to females, 62% and 38%, respectively compared with 51% males and 49% females in the newborn population (P < 0.001). The association of these 3 factors in relation to the aging gamete of either maternal or paternal origin is discussed.
Prenatal diagnosis of hereditary amyloidosis in a Portuguese family
Authors: Morris Michael , Nichols William , Benson Merrill 
Published: June 2005

AbstractPortuguese‐type amyloidosis is an autosomal dominant condition caused by a point mutation of the prealbumin (transthyretin) gene. The mutation can be detected directly by the presence of a restriction site for Nsil. We report the first prenatal diagnosis for this condition, performed in the first trimester by chorionic villus sampling, polymerase chain reaction, and restriction enzyme digestion.
Photogrammetric evaluation in clinical genetics: Theoretical considerations and experimental results
Authors: Diliberti John H. , Olson David P. 
Published: June 2005

AbstractAs newer mathematical approaches are applied to the field of clinical genetics accurate methods of craniofacial measurement are increasingly necessary. If photogrammetric techniques are to be used certain theoretical and practical issues must be taken into account. Errors due to projection are particularly important, but systematic and random errors must also be considered. We discuss theoretical aspects of projection errors along with experimental measurements. Systematic errors in excess of 20% were found during simulations of typical clinical conditions, although smaller errors were obtained using techniques practical in a clinical setting. Photogrammetric measurements are potentially valuable in the field of clinical genetics but must be used cautiously.
Renal dysgenesis in a monozygotic twin: Association with in utero exposure to indomethacin
Authors: Restaino Irene , Kaplan Bernard S. , Kaplan Paige , Rosenberg Henrietta Kotlus , Witzleben Camillus , Roberts Nancy 
Published: June 2005

AbstractWe report oligohydramnios and renal dysgenesis in one of identical twins, which might have resulted from in utero exposure to early, prolonged high‐dose indomethacin. The proposita was the second of twin girls born at 36 weeks of gestation. Pregnancy was complicated initially by polyhydramnios in both amniotic sacs and premature uterine contraction. After administration of indomethacin and terbutaline from 16 to 30 weeks' gestation, serial prenatal ultrasound examinations ultimately showed oligohydramnios in twin B and resolution of polyhydramnios in twin A. On day 5 twin B developed hematuria, hypertension, renal failure, hyponatremia, hyperkalemia, metabolic acidosis, sodium wasting and severe, transient inability to excrete potassium. Renal sonography showed enlarged, hyperechoic kidneys with almost no corticomedullary differentiation. Renal biopsy revealed immature glomeruli, dilated Bowman's spaces, dilated tubules, and interstitial fibrosis. The liver was histologically normal.Indomethacin may induce oligohydramnios and transient renal insufficiency in humans and renal dysgenesis in fetal monkeys; it might have induced the abnormalities in this patient.
Familial aggregation of lipids and lipoproteins in families ascertained through random and nonrandom probands in the Stanford lipid research clinics family study
Authors: Rice Treva , Vogler George P. , Laskarzewski Peter M. , Perry Tammy S. , Rao D. C. 
Published: June 2005

AbstractWe examined the familial aggregation of lipids [total cholesterol (CH) and triglyceride (TG)] and lipoproteins [high‐density lipoprotein cholesterol (HDL) and low‐density lipoprotein cholesterol (LDL)] in families ascertained through random and nonrandom probands in the Stanford Lipid Research Clinics Family Study. Nonrandom probands were selected because their lipid levels at a prior screening visit exceeded a certain prespecified threshold. The statistical method is based on selection through indirect truncation on a correlated trait (in which the likelihood function is conditioned on the actual event that the proband's value is beyond the threshold). This method allows for estimation of the path model parameters in randomly and nonrandomly ascertained families jointly and separately, thus enabling tests of heterogeneity between the two types of samples. The results suggest that the multifactorial transmission is homogeneous in the random and hyperlipidemic samples for CH. However, the evidence for heterogeneity is moderate for LDL, marked HDL, and mixed for TG. The general pattern of observed results is for somewhat higher genetic heritabilities in the random than nonrandom samples, which is compatible with a higher prevalence in the random sample of certain dyslipoproteinemias associated with nonelevated lipids. Substantial genetic heritability is found for CH, HDL, and LDL, with somewhat lower estimates for TG. Cultural heritability is low but significant for all four traits. Little or no spouse resemblance or nontransmitted shared sibship effects are seen. In contrast to the findings from previous studies, little or no parental cultural transmission is seen.
Two forms of ring 13 in a child with rhabdomyosarcoma
Authors: Voullaire Lucille E. , Petrovic Vida , Sheffield Leslie J. , Campbell Peter 
Published: June 2005

AbstractMosaicism for two forms of ring 13 was found in a child with embryonal rhabdomyo‐sarcoma of the bladder, minor anomalies, and developmental delay. Her chromosome constitution was 46, XX, r(13)(p11q34)/46, XX, r del(13)(p11q14). Both cell lines were present in lymphocytes and fibroblasts. The cell line with the smaller ring chromosome predominated in both tissues. The child's manifestations reflect the presence of both cell lines.
Deletion mapping of a retinal cone‐rod dystrophy: Assignment to 18q211
Authors: Warburg Mette , Sjö Ole , Tranebjaerg Lisbeth , Fledelius Hans C. 
Published: June 2005

AbstractDeletion of 18q211 was observed in a mentally retarded young man with electrophysiologically demonstrated cone‐rod dystrophy, present since childhood. He had hypogonadism and a central postsynaptic hearing impairment. This is the first case of a chromosome deletion in a patient with a cone‐rod dystrophy.Three patients with more distal deletions on chromosome 18 did not present retinal dystrophies. We suggest that one of the loci for cone‐rod dystrophy may be located on chromosome 18 at q211‐213. Reports of similar findings will be necessary for confirmation of this assumption.
Using log‐linear models to test for associations among congenital malformations
Authors: Beaty T. H. , Yang P. , Khoury M. J. , Harris E. L. , Liang K. Y. 
Published: June 2005

AbstractLog‐linear models can be used to test for pairwise associations and higher order interactions among anatomically distinct birth defects or congenital malformations. A loglinear model, including terms for every possible pairwise association among seven severe and easily detectable congenital malformations, was examined using data on 16,217 infants registered in the Metropolitan Atlanta Congenital Defects Program between 1968 and 1986. The resulting model showed clear patterns of strong association between some congenital malformations and not others, and the presence of 3‐way interaction terms where the association between two malformations depended on the presence of a third. Examining a more parsimonious log‐linear model showed overlapping patterns of pairwise association involving anal‐rectal atresia and omphalocele, anal‐rectal atresia and limb deficiency, and anal‐rectal atresia and tracheaesophageal fistula. A second common pattern involved a triangular cluster with a hierarchical relationship among the three malformations (where there was a strong association between the first and second malformations and between the first and third malformations, but the association between the second and third was only seen in the absence of the first). Three such overlapping triangular clusters were identified from these data: neural tube defects, oral clefts, and omphalocele; neural tube defects, oral clefts, and limb deficiency; and limb deficiency, diaphragmatic hernia, and neural tube defects. Some of these clusters correspond to known associations, but log‐linear models offer a simple and systematic approach to searching for possible associations among anatomically distinct malformations.
Distribution of aneuploidy in human gametes: Comparison between human sperm and oocytes
Authors: Martin Renée H. , Ko Evelyn , Rademaker Alfred 
Published: June 2005

AbstractThe frequency and distribution of aneuploidy was compared in 11,615 karyotyped human sperm and 772 karyotyped human oocytes to determine if all chromosomes are equally likely to be involved in aneuploid events or if some chromosomes are particularly susceptible to nondisjunction. The frequency of hypohaploidy and hyperhaploidy was compared among different chromosome groups and individual chromosomes for human sperm and oocytes. In general, hypohaploid chromosome complements were more frequent than hyperhaploid complements in sperm and oocytes. The distribution of chromosome loss in the hypohaploid complements indicated that significantly fewer of the large chromosomes and significantly more of the small chromosomes were lost, suggesting that technical loss predominantly affects small chromosomes. A conservative estimate of aneuploidy (2 X hyperhaploidy) was approximately 3–4% in the human sperm and 18–19% in human oocytes. All chromosome groups were represented among hyperhaploid human sperm and oocytes. For human sperm, the observed frequency of hyperhaploidy equaled the expected frequency based on the assumption that the frequency of nondisjunction is equal for all chromosome groups, with two exceptions: group G and the sex chromosomes. Among individual chromosomes in human sperm, chromosomes 1 and 21 and the sex chromosomes had a significant excess of hyperhaploidy. For human oocytes, there were fewer hyperhaploid oocytes than expected for chromosome groups C and F and more than expected for chromosome groups D and G. Among individual chromosomes there was a significant excess for chromosome 21. These results indicate that all chromosomes are susceptible to nondisjunction but that chromosome 21 is particularly prone to aneuploidy in both human sperm and oocytes. They also demonstrate that sex chromosome aneuploidy is common in human sperm but not in human oocytes.
Penta X syndrome: A case report with review of the literature
Authors: Kassai R. , Hamada I. , Furuta H. , Cho K. , Abe K. , Deng H.‐X. , Niikawa N. 
Published: June 2005

AbstractWe describe a 6 month‐old girl with a 49, XXXXX chromosome constitution. The patient had a characteristic round face, a low hairline, hypertelorism, epicanthus, a long philtrum, high‐arched palate, short and webbed neck, small hands and feet, clinodactyly of the fifth fingers, overlapping toes, and separation between the first and the second toes. She also had atrial septal defect and patent ductus arteriosus complicated by myocarditis which exacerbated the course of her congestive heart failure. Psychomotor development was retarded with opisthotonoid posture, axial hypotonia, and with a borderline abnormal EEG. A densitometric, transmission analysis on X‐linked polymorphic DNA‐fragments of the Southern blots of the patient and the parents, using P20/MspI and pERT87‐1/XmnI as probe/enzyme combinations, showed that the pentasomy X had resulted from 3 successive nondisjunctions at maternal meiosis. Clinical manifestations among 22 previously reported penta X syndrome patients are also reviewed.
Alagille syndrome associated with caudal dysplasia sequence
Authors: Rodríguez José Ignacio , Rivera Teresa , Palacios José 
Published: June 2005

AbstractA 36 day‐old male with typical features of Alagille syndrome presented at birth additional features consistent with the diagnosis of caudal dysplasia sequence: imperforate anus, rectourethral fistula, lumbosacral abnormalities, and dysplastic right kidney. The association of these 2 conditions has not been previously reported, and could indicate the existence of an axial mesodermal dysplasia, of variable extension, in the Alagille syndrome.
Metacarpophalangeal pattern profiles: Q‐score for ages from birth to 7 years
Authors: Dijkstra Piet F. , Venema Henk W. 
Published: June 2005

AbstractThe metacarpophalangeal pattern profile (MCPP) analysis is a widely used method of standardization of bone length measurements to quantify congenital skeletal dysplasia of the hands.A main source of inaccuracy is the prominent scatter in the values of the standard deviation (S.D.) of the reference length, which is used in the calculation of the standardized values (Z‐scores).Other sources of error, especially when bone length measurements of younger children are evaluated, are the rather large variability in the age of appearance of the epiphyses of the different bones, and the use of tabulated reference data which are available only at one‐year intervals.We have devised another method of standardization of bone length measurements, by calculating the Q‐score. Its advantages are that no S.D. values are needed and that more accurate results are obtained. Moreover the interpretation of the Q‐scores is more straightforward than the interpretation of the Z‐scores. Q‐scores for 3 patients with Sotos syndrome are presented.Use of the MCPP in the form of the Q‐score, will probably make it an even stronger tool than before.
Osteodysplastic variant of primordial dwarfism
Authors: Shebib Souheil , Hugosson Claes , Sakati Nadia , Nyhan William L. 
Published: June 2005

AbstractA patient with intrauterine growth retardation and marked postnatal retardation of growth had microcephaly and the orofacial and dental characteristics of the Seckel phenotype. In addition she had short forearms, metaphyseal flare, especially of the distal femora, triangular distal femoral epiphyses, and pseudoepiphyses of the hands, all characteristics of an osteodysplastic variant. Parental consanguinity suggests autosomal recessive inheritance.
New Syndrome? Robin sequence with facial and digital anomalies in two half‐brothers by the same mother
Authors: Chitayat David , Meunier Catherine M. , Hodgkinson Kathy A. , Azouz Michel E. 
Published: June 2005

AbstractTwo half‐brothers by the same mother presented with the Robin sequence and facial and digital anomalies. The mother has a normal face and mild hyperopia without abnormality on radiographs of the hands, feet, and pelvis. The older son is 4 years and the younger is 6 months old. Both have normal psychomotor development. To the best of our knowledge this familial association has not been reported before and probably represents a previously unrecognized heritable malformation syndrome. The occurrence of the syndrome in 2 half‐brothers by the same unaffected mother suggests X‐linked recessive inheritance.
Animal model: Chromosomal fragile site expression in dogs: II. Expression in boxer dogs with mast cell tumors
Authors: Stone Diana M. , Jacky Peter B. , Prieur David J. 
Published: June 2005

AbstractPeripheral blood lymphocytes from boxer dogs with a history of cutaneous mast cell tumors were cultured for fragile site expression. As in a control group of dogs, cells from these dogs expressed folate‐sensitive autosomal and X chromosome fragile sites. Cells from boxer dogs with mast cell tumors expressed the same three common fragile sites on the X chromosome as cells from control dogs. Three folate‐sensitive autosomal fragile sites not observed in cells from the control dogs were identified in cells from boxers with mast cell tumors. These included fragile sites near the telomeres of the arms of chromosomes 3 and 4 and a fragile site on the distal half of chromosome 15. Cells from boxers with mast cell tumors showed a greater frequency of fragile site expression than did cells from control dogs, but this observation was attributed to an unintended selection bias for younger boxer dogs without mast cell tumors and older boxer dogs with mast cell tumors and an increased frequency of fragile site expression with increasing age in dogs of the boxer breed.
Pathogenetic mechanisms of fetal akinesia deformation sequence and oligohydramnios sequence
Authors: Rodríguez José Ignacio , Palacios José 
Published: June 2005

AbstractThis article briefly reviews the participation of fetal compression, muscular weakness, and fetal akinesia in the genesis of the anomalies found in fetal akinesia deformation sequence (FADS) and oligohydramnios sequence (OS). Both sequences share phenotypic manifestations, such as arthrogryposis, short umbilical cord, and lung hypoplasia, in relation to decreased intrauterine fetal motility. Other characteristic manifestations found in OS, such as Potter face, and redundant skin, are produced by fetal compression. On the other hand, growth retardation, craniofacial anomalies, micrognathia, long bone hypoplasia, and polyhydramnios found in FADS could be related to intrauterine muscular weakness.
Baller‐Gerold syndrome associated with congenital hydrocephalus
Authors: Lewis M. E. Suzanne , Rosenbaum Peter L. , Paes Bosco A. 
Published: June 2005

AbstractWe present a new case of the Baller‐Gerold syndrome (BGS) in an infant with prenatally apparent severe hydrocephalus, growth retardation, and cardiac and limb abnormalities detected by ultrasound at 26 weeks of gestational age. Subsequent survival to term and neonatal examination confirmed an unsuspected diagnosis of BGS.
Father‐to‐daughter transmission of focal dermal hypoplasia associated with nonrandom X‐inactivation: Support for X‐linked inheritance and paternal X chromosome mosaicism
Authors: Gorski Jerome L. 
Published: June 2005

AbstractFocal dermal hypoplasia (FDH) is a rare syndrome of severe developmental anomalies of the tissues and organs derived from ectoderm and mesoderm. Though data have suggested that FDH is an X‐linked dominant trait associated with male hemizygote lethality, a hypothesis supported by the observation of three unrelated infants with FDH manifestations andde novochromosome rearrangements involving Xp22, observations of father‐to‐daughter transmission have suggested possible genetic heterogeneity and autosomal dominant inheritance with sex limitation. We hypothesize that, if FDH is an X‐linked disorder, cells expressing an active disease locus might experience a selective disadvantage resulting in a nonrandom pattern of X‐inactivation in patient tissue. To test this hypothesis, we studied one of the two previously described families demonstrating father‐to‐daughter inheritance of FDH. To determine if the affected daughter had a skewed pattern of X‐inactivation consistent with X‐linked inheritance of FDH, somatic cell hybrids were constructed by fusing hypoxanthine phosphoribosyl transferase (HPRT)‐deficient rodent fibro‐blasts with either patient dermal fibroblasts or peripheral white blood cells (WBCs); hybrid clones retaining an active X chromosome were analyzed to determine the parental origin of the active X chromosome. Analyses of resulting hybrid clones showed that while hybrids constructed from skin fibroblasts contained an active X chromosome inherited from either of the patient's parents, hybrids constructed from WBCs showed a skewed pattern of X‐inactivation; 11 of 11 hybrids contained an active maternal X chromosome (X2= 12.2,P= .001). These findings indicated that, in this family, FDH was associated with a nonrandom pattern of X‐inactivation consistent with X‐linked inheritance, suggesting that the patient's father was mosaic for a mutant FDH allele.
Reduced activity of arylsulfatase A and predisposition to neurological disorders: Analysis of 140 pediatric patients
Authors: Sangiorgi Simonetta , Ferlini Alessandra , Zanetti Adele , Mochi Mirella 
Published: June 2005

AbstractA sample of 140 children exhibiting neurologic disturbances (93 suffering from epilepsy and 47 with delayed psychomotor development or mental retardation) was tested for the activity of some lysosomal enzymes. A partial deficiency of arylsulfatase A (ASA) in leucocytes (activities lower than 60% of the control average) was detected in 36 patients (25.7%), whereas few ASA‐deficient individuals (1.4%) were found in the control sample of 71 healthy children. Therfore, the frequency of ASA deficiency is abnormally high in our sample of pediatric patients. ASA activity levels were also assayed on fibroblasts from 12 of the 36 ASA‐deficient patients; the mean activity in these cells was 20% of the control average. Excretion of urinary sulfatides was not in creased in the tested ASA‐deficient patients (10/36). Clinical symptoms of these ASA‐deficient patients bore no resemblance to classical metachromatic leucodystrophy (MLD), but resemble literature cases labeled as atypical MLD or diagnostic puzzles. This result suggests that reduced ASA activity might be associated with an increased risk of developing neurologic or neuropsychiatric disturbances in children.
Balanced complex chromosomal rearrangements with more than four breakpoints: Report of a new case
Authors: Till Marianne , Devillard Françoise , Crost Pierre , Bachy Monique , Prieur Fabienne , Berthéas Marie‐Françoise 
Published: June 2005

AbstractCongenital complex chromosomal rearrangement (CCR) compatible with life are rare in man. We report on a new case of apparently balanced CCR in a 30‐month‐old boy with mental retardation and minor anomalies.This CCR consists in a 3‐way reciprocal translocation (2;3;16) and an insertion (6;7), as it was analyzed by different banding and high resolution techniques.It involves 6 breakpoints: 2q11, 13q12, 16p11, 6p21.3, 7q21.3 and 7q35.
New X‐linked syndrome of mental retardation, gynecomastia, and obesity is linked to DXS255
Authors: Wilson Meredith , Mulley John , Gedeon Agi , Robinson Hazel , Turner Gillian 
Published: June 2005

AbstractWe describe 14 males from 3 successive generations in a family who have X‐linked mental retardation (XLMR), obesity, gynecomastia, speech difficulties, emotional lability, tapering fingers, and small feet. Linkage analysis using markers spread along the X chromosome demonstrated a gene localisation close to the centromere. Maximum lod scores for markers near the centromere, all at θ= 0.00, were 1.36 for DXS7, 4.82 for DXS255, 2.79 for DXS14, 2.09 for DXS72, and 1.46 for DXYS1. The closest flanking markers which showed recombination were DXS84, and DXS94, defining the physical localisation within Xp21.1‐q22. DXS255 was fully informative with lod‐1 confidence interval for θ of 0.00–0.12. Clinical findings and linkage data in this family distinguish it from the Börjeson‐Forssman‐Lehmann syndrome and other previously described XLMR syndromes.