bluuebunny/crossref_metadata_2025_split huggingface dataset:
Family with 22‐derived marker chromosome and late‐onset dementia of the Alzheimer type: II. Further cytogenetic analysis of the marker and characterization of the high‐level repeat sequences using fluorescence in situ hybridization
Authors: Percy Maire E. , Dearie Thomas G. , Jabs Ethylin Wang , Bauer Sharon J. , Chodakowski Barbara , Somerville Martin J. , Lennox Anne , McLachlan Donald R. C. , Baldini Antonio , Miller Dorothy A. 
Published: June 2005

AbstractWe have further characterized an unusual 22p+ marker chromosome with a double nucleolus organizer region (dNOR) previously identified in a family with late‐onset dementia of the Alzheimer type.G‐banding and morphology of the marker's q arm were typically normal. However, the p+ arm had a terminal cytological satellite and a GT‐positive region at the midpoint. Standard C‐banding documented 2 C‐positive regions: one was associated with the primary centromere; the other, which was at the midpoint of the p arm, was not associated with a constriction. With replication‐banding, there was a darkly staining region in the middle of the p+arm that resembled the pericentromeric region of a chromosome 21 or 22. Fluorescence in situ hybridization with pXlr 101, a probe recognizing the full repeating unit of rDNA, indicated that the marker had an unusually large rDNA region; with pU 1.2, a probe recognizing the human rDNA promoter, the signal was a doublet. The marker had 2 signals with a β‐satellite probe, and a second signal in addition to that present at the primary centromere under low stringency with α‐satellite probes and a classic satellite probe. Immunostaining of chromosome spreads after R‐banding and ultraviolet (UV) denaturation showed that the major portion of the marker's p arm was highly methylated. © 1993 Wiley‐Liss, Inc.
Limb deficiency with or without Möbius sequence in seven Brazilian children associated with misoprostol use in the first trimester of pregnancy
Authors: Gonzalez Claudette Hajaj , Vargas Fernando R. , Perez Ana Beatriz Alvarez , Kim Chong Ae , Brunoni Decio , Marques‐Dias Maria Joaquina , Leone Clea R. , Neto JordãO Correa , Llerena Juan C. , de Almeida José Carlos Cabral 
Published: June 2005

AbstractMisoprostol, a synthetic analog of prostaglandin, has been widely used in Brazil as an abortifacient. Abortion is illegal in Brazil. An uncertain number of these abortion attempts are unsuccessful and the pregnancy continues. We report on 7 patients whose mothers attempted to abort using this drug in the first trimester of gestation without success. The 7 patients presented with limb defects and in 4 of them a diagnosis of Möbius sequence was made. © 1993 Wiley‐Liss, Inc.
Further delineation of Costello syndrome
Authors: Teebi Ahmad S. , Shaabani Issa S. 
Published: June 2005

AbstractWe report on a 6‐year‐old girl with Costello syndrome. Main manifestations included poor postnatal growth, relative macrocephaly, curly hair, distinct “coarse” face, mild mental retardation, happy and sociable personality, loose dark skin particularly of hands and feet, acanthosis nigricans, thin deep set nails, enamel hypoplasia of teeth, and hyperextensible joints. The absence to date of perioral and nasal papillomata in this girl suggests that Costello syndrome is clinically recognizable even before appearance of such papillomata. Manifestations are compared to the four previously reported sporadic cases. © 1993 Wiley‐Liss, Inc.
Costello syndrome: Further clinical delineation, natural history, genetic definition, and nosology
Authors: Zampino Giuseppe , Mastroiacovo Pierpaolo , Ricci Roberta , Zollino Marcella , Segni Giuseppe , Martini‐Neri Maria Enrica , Neri Giovanni 
Published: June 2005

AbstractIn 1977 Costello described two unrelated children with poor postnatal growth, mental retardation, curly hair, coarse face of similar appearance, and nasal papillomata, suggesting the existence of a previously undescribed syndrome of uncertain familial nature [Costello, Aust Paediatr J 13: 114–118, 1977]. The existence of this syndrome as a separate entity was substantiated several years later by two additional reports by Der Kaloustian et al. [Am J Med Genet 43:678–685, 1991] and Martin and Jones [Am J Med Genet 41:346–349, 1991]. More recently Borochowitz et al. [Am J Med Genet 43:678–685,1992] described a new “multiple congenital anomalies/mental retardation syndrome with facio‐cutaneous‐skeletal involvement.” Whether this condition should be considered separately from the Costello syndrome is currently a matter of debate. We present three cases, two of whom are sibs, who support the identity of the two syndromes.Our aim is to better redefine the diagnostic criteria, describe the natural history, and confirm the genetic cause of the Costello syndrome, whose pattern of inheritance is most likely autosomal recessive. © 1993 Wiley‐Liss, Inc.
Combined pedigree and twin family study to determine the sources of variation in serum biotinidase activity: The usefulness of multiple study designs
Authors: Weissbecker Karen A. , Wolf Barry , Eaves Lindon J. , Marazita Mary L. , Nance Walter E. 
Published: June 2005

AbstractBiotinidase, the enzyme responsible for recycling the vitamin biotin, is deficient in most individuals with late‐onset multiple carboxylase deficiency. Based on clinical criteria, biotinidase deficiency appears to be inherited as an autosomal recessive trait; however, the inheritance of biotinidase serum activity as a quantitative trait has not been studied previously. In this study, both segregation analysis of proband families and the analysis of twin family data were used to determine the relative contributions of a major gene, polygenes and environment to the variation in serum biotinidase activity. Segregation analysis of 24 families of biotinidase‐deficient individuals indicated that serum biotinidase activity is determined by the segregation of a single codominant major gene with the variability about the mean of each major genotype attributable to environmental effects. Significant polygenic effects could not be detected by this analysis. Variance component analysis of 128 twin families, which included the twins, their spouses, and their offspring, indicated that 70% of total variance in biotinidase activity is attributable to additive genetic effects, 22% to individual environmental effects, and 8% to shared environmental effects. The model also included an age effect for females. A portion (27%) of the estimated additive variance may be attributed to the segregation of the major gene. This study emphasizes the usefulness of studying multiple data sets representing different types of family relationships. © 1993 Wiley‐Liss, Inc.
Pallister‐Killian and Fryns syndromes: Nosology
Authors: McPherson Elizabeth W. , Ketterer Deborah M. , Salsburey Donna J. 
Published: June 2005

AbstractFryns syndrome is a lethal autosomal recessive multiple congenital anomaly syndrome characteristic “coarse” facies, cleft palate, diaphragmatic hernia, and distal digital hypoplasia. The appearance of the face and digits is very similar to that observed in Pallister‐Killian syndrome (mosaic isochromosome 12p), although the incidence of cleft palate, diaphragmatic hernia, and neonatal death is much lower in the latter condition.We report on an infant with many manifestations of Fryns syndrome (“course” face, cleft palate, cloudy corneae, diaphragmatic hernia, distal digital hypoplasia, and neonatal death) who was found to be mosaic for i(12p). Her diagnosis was changed to Pallister‐Killian syndrome and the family was counselled accordingly.The clinical overlap between Fryns and Pallister‐Killian syndromes is discussed. Because the chromosome abnormality in Pallister‐Killian syndrome is often limited to fibroblasts and may be selectively eliminated both in vivo and in vitro, some Pallister‐Killian patients may be misdiagnosed with Fryns syndrome and given an erroneously high recurrence risk. Newborn infants with the Fryns or Pallister‐Killian phenotypes should have chromosome studies involving multiple tissues so that the correct diagnosis can be made. This will contribute to the understanding of both disorders and facilitate appropriate genetic counselling. © 1993 Wiley‐Liss, Inc.
Joint contractures, hyperkeratosis, and severe hypoplasia of the posterior columns: A new recessive syndrome
Authors: Johnston Kathreen , Aarons Ralph , Schelley Susan , Horoupian Dikran 
Published: June 2005

AbstractWe report on 2 brothers with arthrogryposis, hyperkeratosis, and severe hypoplasia of dorsal roots and posterior columns in the one sib who was examined at autopsy. This appears to represent a new arthrogryposis syndrome with poor prognosis, most likely inherited as a single gene, either autosomal or X‐linked recessive trait. © 1993 Wiley‐Liss, Inc.
Whose DNA is it anyway? Relationships between families and researchers
Authors: Hannig Vickie L. , Clayton Ellen Wright , Edwards Kathryn M. 
Published: June 2005

AbstractDNA obtained for research may, at a later time, become crucial for carrier and prenatal diagnosis. Continuing rapid advances in human genetics make this scenario more and more common. The following case illustrates some of the problems that may occur when DNA donors and researchers do not establish a verbal or written agreement at the time the DNA is obtained. The legal and ethical ramifications of this situation are examined through case discussion and review of the literature. We propose that even in the absence of a verbal or written agreement, researchers continue to have a responsibility to share any significant information obtained From linkage studies with donor families if such information becomes available. If the DNA specimens become critical for prenatal or carrier testing at a later time, we feel that the family has a right to request and receive aliquots of such specimens. The research unit should have the right to charge a storage fee for DNA banking. Clear agreement between donor and researcher at the time of specimen collection may avoid legal and ethical problems in the future. © 1993 Wiley‐Liss, Inc.
Smith‐fineman‐myers syndrome:Report on a large family
Authors: Wei Jianjun , Chen Bingxi , Jiang Yuan , Yang Yaping , Guo Yishou 
Published: June 2005

AbstractSmith‐Fineman‐Myers syndrome is considered an x‐linked mental rertardation (XLMR) syndrome. Three families have been reported to date. However, none presented a typical pattern of X‐linked inhertance. Here we reported on 5 males with Smith‐Fineman‐Myers syndrome with similar phelnotypic expression as in those cases reported previously; they were distributed in 4 sibships of one large maternal kindred. This finding adds strong support to the hypothesis of the Smith‐Fineman‐Myers syndrome being a rare XLMR syndrome. © 1993 Wiley‐Liss, Inc.
Monosomy 11q: Report of two familial cases and review of the literature
Authors: Hustinx Roland , Verloes Alian , Grattagliano Bettina , Herens Christian , Jamar Mauricette , Soyeur Danial , Schaaps Jean‐Pierre , Koulischer Lucien 
Published: June 2005

AbstractWe present four children from two families with the typical 11q‐ phenotype resulting from an unbalanced segregation of a parental translocation. In the first family, the father had a 46,XY,t(5;11)(q24;q23.3) constitution. The father of the three other children had a 46,XY,t(11;17)(q23;p13) translocation. Despite associated partial deletion, three of the children has a typical 11q‐phenotype. The fourth one, whose pregnancy was terminated in the second trimester, had a hypoplastic left heart but no other considered gross anomalies. A review of 36 previous cases, including 5 due to translocation (4 familial rearrangements, and 1 of unknown origin) is given with emphasis on the relationships between breakpoints and phenotype. Undescribed manifestations in our patients include agenesis of corpus callosum adactyly and malrotation of the gut. © 1993 Wiley‐Liss, Inc.
Polysplenia syndrome and congenital short pancreas
Authors: Wainwright Helen , Nelson Matilda 
Published: June 2005

AbstractWe present a report of a stillborn female of mixed ancestry with congenitally short pancreas, polysplenia, congenital heart defect, normal bronchial branch pattern, and interruption of the inferior vena cava to add to the growing numbers (15) of this malformation complex in the literature. Additional mani‐festations were congenital hydrocephalus and absence of intestinal malrotation.A recent poster presentation at the Second International Workshop on Fetal Genetic Pathology in Montana by Drut et al. underlined the importance of reporting these cases and of the pathological examination required [“Abnormal Slpleen Lobulation and Short Pancreas,” in Blastogenesis–Normal and Abnormal. New York: Wailey‐Liss, Inc. for the National Foundation–March of Dimes,1993]. © 1993 wiley‐Liss, inc.
Fetus in fetu:Molecular analysis of a fetiform mass
Authors: Hing Anne , Corteville Jane , Foglia Robert P. , Bliss David P. , Donis‐Keller Helen , Dowton S. Bruce 
Published: June 2005

AbstractFetus‐in‐fetu is a rare condition presenting as a calcified intra‐abdominal mass in the new‐born infant. Over 50 cases of fetus‐in‐fetu have been reported since 1800. Karyotype analysis in 8 cases and protein polymorphisms in 4 documented identical finding in the host and fetiform mass. We report a case of fetus‐in‐fetu in a newborn female including cytogenetic and molecular studies of both the host and mass. Genotypic information from 7 polymerase chain reaction (PCR) assays representing 4 chromosomes demonstrates heterozygous and identical alleles in the infant and fetus‐in‐fetu at all loci studied. A review of the literature is provided including a discussion regarding the impact of moleculer data on present hypotheses of fetus‐in‐fetu pathogenesis. © 1993 Wiley‐Liss, Inc.
Complex segregation analysis of antibodies to thyroid peroxidase in old order amish families
Authors: Pauls David L. , Zakarija Margita , McKenzie J. Maxwell , Egeland Janice A. 
Published: June 2005

AbstractAutoimmune thyroid disease (AITD) may be characterized by the measurement in serum of antibodies to thyroid peroxidase. A population of Old Order Amish individuals and families was investigated to determine the prevalence of these antibodies and to examine hypotheses about the mode of transmission of thyroid antibodies. Complex segregation analysis were performed on 4 large multi‐generational Old Order Amish families composed of 26 nuclear families containing 199 first degree relatives. Several alternative hypotheses of genetic transmission were examined. Hypotheses of no transmission, polygenic inheritance, single locus transmission, and mixed inharitance were compared. The analyses incorporated population prevalences obtained from a random sample of of individuals. Result suggest that the pattern of transmission of thyroid antibodies in these families is consistent with a mixed model in which the major gene is transmitted in an autosomal dominant pattern. The mixed model postulates that there is a single gene of major effect as well as a polygenic component that can act separately and/or together to confer susceptibility for this phenotype. The parameter estimates for the major locus are: gene frequency (q), 0.16 ± 0.01; maximum male penetrance, 0.35; and maximum female penetrance, 0.70. The heritability of the polygenic background is estimated at 0.41. © 1993 Wiley‐Liss, Inc.
Prenatal diagnosis of hemophilia involving grandpaternal mosaicism
Authors: Lebo Roger V. , Koerper Marion A. , Kim Jong Hwa , Chueh Jane , Golbus Mitchell S. 
Published: June 2005

AbstractOur Factor VIII and RFLP analyses identified previously unreported grandpaternal hemophilia A mosaicism in a male who transmitted the disease allele to 2 of 4 daughters and 2 of 4 grandsons. An uncommon flanking polymorphic DXS52 allele cosegregated with this grandpaternal mutant allele. This and other reports of mosaic hemophilia A carriers indicate that parental mosaicism can explain unusual segregation of loe Factor VIII activities and DNA polymorphism in about 1% of hemophilia A pedigrees. © 1993 Wiley‐Liss, Inc.
The Williams syndrome: Evidence for possible autosomal dominant inheritance
Authors: Sadler Laurie S. , Robinson Luther K. , Verdaasdonk Kathleen R. , Gingell Rebert 
Published: June 2005

AbstractWe recently evaluated a mother and son with the Williams syndrome. Documentation of the clinical phenotype in two generations of this family suggests that some cases of the Williams syndrome are autosomal dominantly inherited. Recognition of the heritable nature of the Williams syndrome should prompt careful clinical evaluation of other at‐risk relatives in order to provide accurate recurrence risk counseling. © 1993 Wiley‐Liss, Inc.
Metacarpophalangeal pattern profile analysis in Williams syndrome
Authors: Burns Michele A. , McLeod D. Ross , Linton L. R. , Butler Merlin G. 
Published: June 2005

AbstractMany patients with Williams syndrome (WS) are not diagnosed until they are old enough to demonstrate the characteristic personality and facial changes. A number of these changes are quite subtle and none of them is present in all affected individuals. The cause of WS remains obscure and consequently, there are no cytogenetic, biochemical, or molecular studies to help in the diagnosis of patients in whom the diagnosis is uncertain. We have generated a mean WS metacarpophalangeal patten profile (MCPP) on 21 clinically diagnosed individuals with WS. This mean syndrome profile shows that WS hands are smaller than average age‐matched control hands and that the distal phalanx of the thumb is disproportionately large with respect to the rest of the hand. A mathematical model, which effectively discriminates WS patients from unaffected control individuals, was developed using discriminant analysis of the MCPP data. Of the 21 WS patients classified by this method, only 2 were misclassified as “normal.” Similarly, 2 of the 24 control individuals were misclassified as “WS”, yielding an overall successful classification rate of 91%. © 1993 Wiley‐Liss, Inc.
Williams syndrome: Autosomal dominant inheritance
Authors: Morris Colleen A. , Thomas Ioan T. , Greenberg Frank 
Published: June 2005

AbstractWilliams syndrome (WS) usually occurs sporadically. Few familial cases of Williams syndrome have been described, and those reports have often lacked photographic documentation. We describe 3 families, including a 3‐year‐old boy and his 34‐year‐old father, a 2‐year‐old girl and her 30‐year‐old mother, and a 3‐year‐old girl and her 31‐year‐old mother. None of these patients has supravalvular aortic stenosis or chromosome abnormalities. In all 3 families, the parent with Williams syndrome was diagnosed after the identification of the syndrome in the affected child. © 1993 Wiley‐Liss, Inc.
Blepharophimosis sequence (BPES) and microcephaly in a girl with del(3) (q22.2q23): A putative gene responsible for microcephaly close to the BPES gene?
Authors: Ishikiriyama Satoshi , Goto Michiyo 
Published: June 2005

AbstractWe report on a girl with the blepharophimosis sequence (BPES), microcephaly of postnatal onset, mild developmental retardation, and a deletion: 46,XX,del(3) (q22.2q23) de novo. A gene for BPES is suspected to be located at 3q23. Almost all cases with interstitial deletions containing 3q23 have not only BPES but also microcephaly and developmental retardation, while those without deletions, including those with apparently balanced translocations, only have BPES. Thus, a putative gene responsible for microcephaly may exist close to BPES gene. BPES, microcephaly, developmental retardation, and primary amenorrhea might constitute a contiguous gene syndrome. © 1993 Wiley‐Liss, Inc.
Mosaic r(13) in an infant with aprosencephaly
Authors: Goldsmith Claire L. , Tawagi George F. , Carpenter Blair F. , Speevak Marsha D. , Hunter Alasdair G. W. 
Published: June 2005

AbstractWe report on a stillborn male infant with a mosaic ring 13 karyotype (45,XY,−13/46,XY,−13,+r(13)) with apparennt aprosencephaly and clinical findings similar to those reported previously in the XK‐aprosencephaly syndrome. Findings of patients with r(13) are often similar to those seen in individuals with del(13q). This case was unusual because of the presence of aprosencephaly, although brain malformations such as arhinencephaly and cerebellar hypoplasia are present in at least one‐half of reported patients with 13q‐. The overlap between these syndromes suggests a possible chromosomal model of the XK‐aprosencephaly syndrome. © 1993 Wiley‐Liss, Inc.
Cincinnati myocardial infarction and hormone family study: Family resemblance for testosterone in random and MI families
Authors: Rice Treva , Sprecher Dennis L. , Borecki Ingrid B. , Mitchell Laura E. , Laskarzewski Peter M. , Rao D. C. 
Published: June 2005

AbstractFamilial correlations for total testosterone and free testosterone were examined in both random and nonrandom families participating in the Cincinnati Myocardial Infarction and Hormone Family Study (CIMIH). The nonrandom families were ascertained through Caucasian males who had survived a myocardial infarction (MI) prior to age 56 years, while random families were recruited largely through an adolescent boy maturation study. Eight sex‐specific familial correlations were estimated (father‐mother, father‐son, father‐daughter, mother‐son, mother‐daughter, son‐son, daughter‐daughter, and son‐daughter) for each of the MI and random samples using maximum likelihood methods with appropriate ascertainment correction. These familial correlations were examined for differences between the random and MI samples, as well as for sex‐specific familial patterns. The results suggest that total testosterone levels may have a limited role in determinig MI risk, as evidenced by the overall heterogeneity between samples, and lower serum levels in MI than random probands. The pattern of correlations for both androgens suggests that a simple genetic model appears unlikely; however, familiality connot be ruled out. Although possible covariate effects such as age and sex may have masked some potentially significant results, especially in males, familiality in females is suggested (correlations ranging from .3–.9) The relative stability of these hormones in females as compared to that in males may have contributed to its identification, and suggests the familial transmissibility may be associated with adrenal production and/or metabolic clearance of testosterone. © 1993 Wiley‐Liss, Inc.
Growth pattern in the Apert syndrome
Authors: Cohen M. Michael , Kreiborg Sven 
Published: June 2005

AbstractIn this paper, we demonstrate that a discernible and unique growth pattern characterizes the Apert syndrome. The keys to understanding Apert newborn measurement values are brain size and cranial configuration. Both true megalencephaly and coronal synostosis are present at birth. Thus, the head is unusually heavy and the cranium is disproportionately high. Mean newborn length and weight are above the normal 50th centile. Of our newborn patients, 16% exceeded 4,000 g in weight. Preterm infants were appropriate or slightly large for gestational age. A biphasic linear growth pattern was found. In childhood, deceleration of linear growth occurs so that most values fall between the 5th and 50th centiles. From adolescence to adulthood, deceleration becomes more pronounced. This 2‐step linear growth deceleration results in large measure from rhizomelic shortness of the lower limbs. Puberty takes place within the normal time frame. Although a disproportionate amount of the megalencephaly accounts for the dramatic increase in head height, the widely patent midline calvarial de fect, allowing the brain to expand anteriorly into the metopic area, and some increase in the head breadth permit the mean head circumference at birth to normalize slightly above the 50th centile. During the growth period, the head circumference was studied in surgically unoperated Apert patients from the 1960s and earlier. The natural history of the growing cranium consists of gradual deceleration in head circumference from slightly above the 50th centile at birth to within or at −2 SD later on. © 1993 Wiley‐Liss, Inc.