bluuebunny/crossref_metadata_2025_split huggingface dataset:
Tandem dup(1p) within the short arm of chromosome 1 in a child with ambiguous genitalia and multiple congenital anomalies
Authors: Elejalde B. Rafael , Opitz John M. , de Elejalde Maria Mercedes , Gilbert Enid F. , Abellera Mario , Meisner Lorraine , Lebel Robert R. , Hartigan J. Michael , Breg W. Roy 
Published: June 2005

AbstractA newborn infant was found to have multiple congenital anomalies including bilateral cleft of lip and palate, intrauterine growth retardation, microcephaly, tetralogy of Fallot, ambiguous external genitalia, and presence of male and female internal genitalia. Chromosome analysis showed a tandem duplication of part of the short arm of chromosome 1, resulting in a dup(1p31→35). The karyotype designation is 46,XY,dir dup(pter→31::p35→p31::p31→qter). The exact nature of the chromosome anomaly was clarified with use of several banding methods.
Oculopharyngeal and distal myopathy: A case study from papua new guinea
Authors: Scrimgeour Euan M. , Mastaglia Frank L. 
Published: June 2005

AbstractDistal limb myopathy with onset at 30 years, followed by the development of progressive ptosis, external ophthalmoplegia, and pharyngeal myopathy was observed in a 37‐year‐old Melanesian man from the Gulf Province of Papua New Guinea. Ptosis and external ophthalmoplegia without apparent distal muscle involvement or dysphagia with onset at 35 and 25 years of age, respectively, were noted in the patient's 44‐ and 27‐year‐old sisters. Autosomal recessive inheritance appears to be likely in this family. This myopathic syndrome has not previously been reported in Melanesians.
Cat‐eye syndrome with unusual marker chromosome probably not chromosome 22
Authors: Rosenfeld Warren , Verma Ram S. , Jhaveri Ramesh C. , Opitz John M. 
Published: June 2005

AbstractAn unusual supernumerary chromosome with a single satellite on the long arm was found in a child with manifestations of the cat‐eye syndrome including apparently low‐set and malformed ears, preauricular tags, micrognathia, and imperforate anus. Although G‐banding suggested that this extra material was chromosome 22, this was not confirmed by several other banding techniques. After examination of the parents' chromosomes, the nature and origin of this extra chromosome remains obscure. We conclude that patients previously diagnosed as having “partial trisomy 22” with incomplete cat‐eye syndrome may have a different chromosome constitution when studied by various banding techniques.
Central nervous system malformations in the Kraków region. II. Case control studies on the human leukocyte antigen genotype and haplotype frequenciess
Authors: Pietrzyk Jacek J. , Turowski Gabriel , Róźański Bogdan 
Published: June 2005

AbstractA case control study of human leukocyte antigen haplotypes was performed on a sample of 44 index families of children with central nervous system (CNS) malformation and 36 families of healthy newborn infants. HLA typing for antigens determined by loci A, B, and C was done on parents and offspring.The HLA genotypes were inferred from segregation in families and the HLA gene and haplotype frequencies were obtained by direct gene counting. Casecontrol comparison did not uncover significant differences at any HLA allele. The haploytype pattern in the group of index cases did not show association with CNS malformations. The HLA phenotype compatibility among the probands' and controls' parents was within the same range except for locus C where parents of children with neural tube defects (NTD) less frequently shared common HLA‐C antigens. The segregation of paternal haploytypes showed significant deviation in the families of NTD infants.
The dynamics of quantifiable homeostasis. IV: Zero‐order homeostasis
Authors: Murphy Edmond A. , Renie William A. , Opitz John M. 
Published: June 2005

AbstractA zero‐order homeostatic process is one in which the corrective force a has sign opposite to that of what the displacement from the homing value was one lag (L) time earlier, but is unrelated to magnitude of displacement. The properties of a zero‐order process are considered in some detail. Its stable state is an oscillation with a period of 4L and a maximum amplitude of aL. It is suggested that this property is exploited in evolution for intrinsically rhythmical processes, and several examples (respiration, menstruation, and heart beat) are discussed. The parameters may be modulated by an ancillary cybernetic (retreat) circuit and hence the properties of the oscillation controlled as need be. Zero‐order oscillation has means of conserving information through phase shifts. Also, when it is combined with a linear cybernetic process (with restoration constant b), it prevents information in the latter from dying out, even if Lb is less than π/2 (which in a pure linear process would ensure extinction of all signs of perturbation). A further elaboration is the Dilman process of zero order in which there is a threshold of displacement below which homeostatic responses are not evoked. The merits of the value of the threshold are discussed. The properties of the zero‐order process with a first‐order retreat function furnish a tentative explanation for why hormonal homeostasis does not operate directly through the pituitary but involves the hypothalamus and intermediate hormone‐releasing factors.
Phenotypic variability in Townes‐Brocks syndrome
Authors: de Pina‐Neto João Monteiro , Opitz John M. 
Published: June 2005

AbstractThis is a report on a child with sensorineural deafness, imperforate anus with rectovaginal fistula, hypoplastic thumb, and congenital heart defect. This pattern of congenital anomalies is similar to that described in patients with the Townes‐Brocks syndrome, although the present patient has characteristics that have not been reported previously in this syndrome. It is proposed that the clinical spectrum of the Townes‐Brocks syndrome must be extended to include congenital heart defect, auricular changes differing from those previously described, and anomalies of other internal organs. The syndrome is an autosomal dominant trait. The present case may represent a de novo mutation.
The pathophysiology of neurofibromatosis: IX. Paternal age as a factor in the origin of new mutations
Authors: Riccardi Vincent M. , Dobson Christopher E. , Chakraborty Ranajit , Bontke Catherine , Opitz John M. 
Published: June 2005

AbstractVon Recklinghausen neurofibromatosis is characterized by a relatively large proportion of apparently nonfamilial cases, presumed spontaneous mutations. This paper analyzes the distribution of paternal and maternal ages for 187 patients with von Recklinghausen disease representing the first definite case in their respective families. Mean paternal age was 32.8 years and mean maternal age was 27.4 years, both being significantly greater than for control populations (P equal to or less than.001). The advanced paternal age was not accounted for by the increase in maternal age. The methodology of controlling the general population paternal ages for each patient's birth year is described.
Cardiovascular findings in congenital contractural arachnodactyly: Report of an affected kindred
Authors: Anderson Richard A. , Koch Sandra , Camerini‐Otero R. Daniel , Opitz John M. 
Published: June 2005

AbstractThree generations of a kindred had a history and physical findings consistent with congenital contractural arachnodactyly (CCA) segregating in an autosomal‐dominant manner. Six of the seven affected patients we examined had mitral valve prolapse (MVP) diagnosed clinically or by echocardiography. The family members without CCA did not have MVP. This association of cardiac involvement with CCA further lessens the distinction between CCA and the Marfan syndrome. The indication for ophthamologic and echocardiographic follow‐up of patients carrying the diagnosis of CCA is stressed.
Analysis of gross anatomical variations in human triploidy
Authors: Moen David W. , Werner Joan K. , Bersu Edward T. , Opitz John M. 
Published: June 2005

AbstractThree cases of human triploidy were dissected in detail to determine whether or not there are any specific patterns of morphologic variation associated with this form of polyploidy. No specific constellations of anatomic variation were observed. However, each body did have a greater than normal number of variations among muscles that tend to be variable in the normal population. Two bodies showed a marked increase in the size of the thigh muscles, two bodies had eyeballs that were larger than normal, and two bodies had anomalous attachments of the extraocular muscles. The sample size is not large enough to draw any specific conclusions concerning the pathogenesis of these variations. However, the findings do suggest that careful examination of additional specimens will be of value in providing further information about the genotype/phenotype relationships in human triploidy.
Syndromes with lissencephaly. I: Millerdieker and Norman‐Roberts syndromes and isolated lissencephaly
Authors: Dobyns William B. , Stratton Robert F. , Greenberg Frank 
Published: June 2005

AbstractLissencephaly (smooth‐brain) is an abnormality of brain development characterized by incomplete neuronal migration and a smooth cerebral surface. At least 2, and possibly more, distinct pathological types occur, each associated with several distinct syndromes. In this paper, the manifestations of 3 disorders associated with type I (classical) lissencephaly are discussed, including the Miller‐Dieker syndrome with or without deficiency of 17p13, Norman‐Roberts syndrome, and isolated lissencephaly sequence.
Johann Friedrich Meckel the Younger (1781–1833)
Authors: Seidler Eduard , Mullen Pierce , Opitz John M. 
Published: June 2005

AbstractOn the occasion of the 200th anniversary of the birthday of Johann Friedrich Meckel the Younger (1781–1833) it is appropriate to examine his contributions to the field of clinical genetics. Special emphasis is given to his laws of “diversity” and “reduction.” These deal respectively with the evolutionary and developmental differences between organisms and the reasons for similarities in development of parts of an organism and the parts of different organisms. Meckel is an important pioneer of modern clinical teratology because he did not restrict his studies to normal development, but rather concentrated on its aberrations in his reflections on the history of development.
Response to the first Meckel oration by Sewall Wright
Authors: Opitz John M. 
Published: June 2005

AbstractIt is a pleasure for me to thank Sewall Wright for preparing and delivering the first Meckel oration, and I deeply appreciate the privilege of commenting on Dr. Wright's paper. The implications of Wright's work for clinical developmental genetics might not be completely clear to a nonclinical geneticist and I have therefore taken the liberty of distilling the following three major concepts out of Sewall Wright's writings on developmental genetics from 1923–1960.
Contributions of mammalian embryo transfer to developmental genetics
Authors: Kraemer Duane C. , Opitz John M. , Renolds James F. 
Published: June 2005

AbstractThe process of transferring preimplantation embryos from the reproductive tract of one female to that of another, commonly referred to as embryo transfer(ET), has been used extensively for exploration of basic mechanisms of developmental genetics. ET has also permitted practical application of such basic knowledge to selective breeding of livestock and treatment of infertility. Contributions of mammalian embryo transfer are presented as they pertain to studies of heredity vs environment, gamete maturation, fertilization, differentiation, and genetic transformation. Future applications of embryo transfer to the study of developmental genetics are likely to include extensive use of microsurgical techniques on a wide variety of mammalian embryos.
The Meckel syndrome in Finland: Epidemiologic and genetic aspects
Authors: Salonen Riitta , Norio Reijo , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractEstimates of the incidence of the Meckel syndrome (MS) from different parts of the world vary from 1:140,000 to 1:13,250 births. In this nationwide study performed in Finland, the incidence of 1:14,400 births was found by retrospective ascertainment during the period 1970–1979, while the incidence was 1:8,500 births when prospective monitoring was performed in 1980–1981. The most probable incidence in Finland is about 1:9,000 births.Autosomal recessive inheritance of MS is confirmed in this study. The ratio of affected sibs, corrected for truncate complete ascertainment, was 0.261. No consanguinity between parents was found, as marriages between close relatives are rare in Finland and the ancestors were not traced back far enough to find remote consanguinities.
A “new” lethal multiple congenital anomaly syndrome: Joint contractures, cerebellar hypoplasia, renal hypoplasia, urogenital anomalies, tongue cysts, shortness of limbs, eye abnormalities, defects of the heart, gallbladder agenesis, and ear malformations
Authors: Rutledge Joe C. , Friedman J. M. , Harrod M. J. E. , Currarino G. , Wright C. G. , Pinckney L. , Chen H. 
Published: June 2005

AbstractThree cases of a lethal malformation syndrome with severe visceral anomalies were seen in two families and include one pair of sibs. The predominating external manifestations are mesomelic dwarfism, micrognathia, V‐shaped upper lip, microglossia, thick alveolar ridges, ambiguous genitalia, webbed neck, highly arched palate, clubfeet, fused fontanelles, inclusion cysts of the tongue, four‐finger creases, digital anomalies, apparently low‐set ears, widely spaced nipples, and dislocated thighs and forearms. The internal findings include oligopapillary renal hypoplasia, severe congenital heart defect, cerebellar hypoplasia, pulmonary hypoplasia, hypoplastic larynx, and hypoplastic gallbladder. Other findings from the two autopsies and one clinical investigation not documented in all three patients include unilobar lungs, hydrocephalus, cataracts, microphthalmia, polydactyly, islet cell hyperplasia, suprapubic skin crease, urethral anomalies, and a decreased number of turns of the cochlea. The hypoplasia seen in the several affected organs is similar to the disordered development seen in experimental models of branching epithelial morphogenesis in which mesenchymal‐epithelial interaction has been disrupted.
Arteriohepatic dysplasia (Alagille syndrome): Extreme variability among affected family members
Authors: Shulman Sally A. , Hyams Jeffrey S. , Gunta Radiskrishna , Greenstein Robert M. , Cassidy Suzanne B. 
Published: June 2005

AbstractWe describe a three‐generation family in which five individuals have arteriohepatic dysplasia (Alagille syndrome) with striking differences in the degree of severity. Two sisters presented with neonatal jaundice, peripheral pulmonic stenosis, and characteristic facial appearance including a broad forehead, deep‐set eyes, prominent nose, and pointed chin. One died at 5 years of cirrhosis with portal hypertension and the other at 18 months of congestive heart failure. Their asymptomatic 32‐year‐old mother and 35‐year‐old maternal aunt have a similar facial appearance, pulmonic stenosis, skeletal anomalies, and bilateral posterior embryotoxon. Neither has evidence of clinical liver disease. The maternal grandfather, who refused evaluation, has a similar appearance, a history of liver disease, and a heart murmur.Extreme intrafamilial variability has not been reported previously and most affected individuals described in the past have followed a benign course. The pattern of severity in this family suggests the possibility of a maternal factor augmenting the clinical expression in affected offspring. The skeletal anomalies and posterior embryotoxon are valuable signs in detecting asymptomatic but affected individuals who are at risk for having offspring with this potentially lethal condition.
Genetic polymorphisms among Bukharan and Georgian Jews in Israel
Authors: Levene C. , Steinberg A. G. , Friedlander Y. , Brautbar C. , Cohen T. 
Published: June 2005

AbstractBukharan and Georgian Jews have lived in central Asia for many centuries. Approximately 30,000 Bukharan and 37,000 Georgian Jews lived in their respective countries within the USSR between 1920 and 1960. Genetic markers of blood—blood groups, isoenzymes, HLA antigens, and gamma and kappa chain allotypes—were tested in blood samples from 113 Bukharan and 134 Georgian Jews living in Israel. Estimates of inbreeding were low: α = 0.0088 for Bukharan and α = 0.0011 for Georgian Jews. G6PD deficiency was relatively rare in Bukharan (2.2%) and in Georgian Jews (6.0%), when compared to other Jews in the area. Both populations showed frequencies of some markers similar to that of other Jewish populations, but frequencies of several markers were extremely high or low. Bukharan Jews showed very high frequencies of B(0.243), cDe (0.122), JkA (0.705), HLA‐A29(0.167), A30 (0.116) and B7 (0.124), and AcPA (0.451) and very low ones of O(0.518), CDe(0.422), AcPB (0.513) and GLO1 (0.140). Very high frequencies in Georgian Jews were observed for cDE (0.189), HLA‐A3 (0.194), Bw35 (0.300) and GLO1 (0.367). Yet the greatest difference between both populations was in African characters. While in Bukharan Jews Fy was very frequent (0.146) and cDe was the highest observed among Jews (0.122), neither of these markers was detected among the Georgian Jews tested. Yet, another African character, the Gm1,5,10,11,13,14,17,26 haplotype, occurred in both populations (0.028 and 0.042 in Bukharan and Georgian Jews, respectively).Distance measures for Bukharan, Georgian, Iranian, Cochin, and Libyan Jews based on 13 polymorphic loci showed the greatest distance between Cochin Jews and the other populations and the smallest distance between the Georgian and Iranian Jews.
Elevated alpha‐fetoprotein and acetylcholinesterase associated with hydrocele
Authors: Verp Marion S. , Milunsky Aubrey , Simpson Joe Leigh , Graham Annie , Sabbagha Ruby 
Published: June 2005

AbstractElevated amniotic fluid alpha‐fetoprotein and presence of acetylcholinesterase were detected in a pregnancy that resulted in an infant whose only abnormality was a hydrocele. Although these amniotic fluid findings are usually indicative of a serious fetal anomaly, our report indicates that this is not always the case.
Prospective management of exstrophy of the cloaca and myelocystocele following prenatal ultrasound recognition of neural tube defects in identical twins
Authors: McLaughlin John F. , Marks William M. , Jones Gary 
Published: June 2005

AbstractWe describe identical twins concordant for exstrophy of the cloaca and myelocystocele. Their management and subsequent course was strongly influenced by prenatal ultrasound recognition of neural tube defects in both twins and severe renal dysplasia in one of the fetuses. The genetic aspects of this case are consistent with existing causal theories of exstrophy of the cloaca.
Ruvalcaba syndrome: Autosomal dominant inheritance
Authors: Sugio Yoshitsugu , Kajii Tadashi 
Published: June 2005

AbstractA kinship is described in which nine individuals in four generations were affected with the Ruvalcaba syndrome including postnatal growth retardation, an oval face with a high forehead, antimongoloid slant of palpebral fissures, small beaked nose with hypoplastic nasal alae, small downturned mouth with thin vermilion borders, pointed chin, and short fingers and toes. Less frequently seen were osteochondritis of the lumbar vertebral bodies, cone‐shaped epiphyses of the phalanges, and narrow diaphyses of the metacarpals and metatarsals. None of the affected individuals was mentally retarded. The propositus, a 3‐year‐old boy, and his mother were typically affected, while his 8‐month‐old sister, the 55‐year‐old maternal grandfather, and his 46‐year‐old younger sister had several of these manifestations. Information on the remaining four affected relatives was incomplete. The syndrome was transmitted in a dominant fashion with variable expressivity. There were two instances of male‐to‐male transmission. This effectively ruled out X‐linked inheritance. The transmission of the syndrome in three other reported pedigrees was also compatible with autosomal dominant inheritance with variable expressivity and incomplete penetrance.
HLA typing in Bartter syndrome
Authors: Delaney Vera , Watson A. J. , Pollack Marilyn , Dupont Bo , Bourke E. 
Published: June 2005

AbstractThe mode of inheritance of Bartter syndrome is unclear; however, autosomal recessive inheritance seems likely. A consistent genetic marker of the carrier state likewise remains elusive. HLA typing was done in a family in whom six of 12 sibs have the syndrome. No significant HLA‐syndrome linkage was found. This is in contrast to another familial hypokalemic syndrome in which a significant HLA association was found.
Balanced rearrangement of chromosomes 2, 5, and 13 in a family with duplication 5q and fetal loss
Authors: Evans Mark I. , White Beverly J. , Kent Stephen G. , Levine Michael A. , Levin Sondra W. , Larsen John W. 
Published: June 2005

AbstractWe have studied a family in which a mother and daughter (the proposita) had the karyotype 46,XX,ins(2;5),t(5;13). The mother had four spontaneous abortions, a mentally retarded son with duplication (5q), and a daughter who died at 3 months. The proposita had a phenotypically abnormal abortus. Rearrangements involving several chromosomes are very rare. Observations on this family are consistent with the predicted high likelihood of reproductive loss.
Deletion of the long arm of the Y chromosome and review of Y chromosome abnormalities
Authors: Fitch Naomi , Richer Claude‐Lise , Pinsky Leonard , Kahn Amnon , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on a patient whose karyotype is 45,X/46,Xdel(Y) (pter→q11.212). We also present a review of literature on the Y chromosome in which evidence is presented that there are genes on the Y chromosome that prevent Ullrich‐Turner syndrome manifestations; aid in testes maturation and spermatogenesis; and affect height, tooth size, and bone maturation.
X;14 translocation: An exception to the critical region hypothesis on the human X‐chromosome
Authors: Markovic Vjerica D. , Cox Diane W. , Wilkinson John , Opitz John M. , Reynolds James F. 
Published: June 2005

AbstractWe report on a family in which an X;14 translocation has been identified. A phenotypically normal female, carrier of an apparently balanced X‐autosome translocation t(X;14) (q22;q24.3) in all her cells and a small interstitial deletion of band 15q 112 in some of her cells had 2 offspring. She represents a fifth case of balanced X‐autosome translocation with the break point inside the postulated critical region of Xq(q13 q26) associated with fertility. The break point in this case is located in Xq22, the same band as in four previously published exceptional cases. In most of her cells, the normal X was inactivated.Her daughter, the proposita, has an unbalanced karyotype 46,X,der(X), t(X;14)(q22;q24.3)mat, del(15)(q11.1q11.3)mat. She is mildly retarded and has some Prader‐Willi syndrome manifestations. She has two normal 14 chromosomes, der(X), and deletion 15q11.2. Her clinical abnormalities probably could be attributed to the deletions 15q and Xq rather than 14q duplication. In most of cells, der(X) was inactivated. We assume that spreading of inactivation was extended to the 14q segment on the derivative X. Late replication and gene dose studies support this view. Another daughter, who inherited the balanced X;14 translocation and not deletion 15 chromosome, is phenotypically normal.