bluuebunny/crossref_metadata_2025_split huggingface dataset:
Functional disomies of the X chromosome influence the cell selection and hence the X inactivation pattern in females with balanced X‐autosome translocations: A review of 122 cases
Authors: Schmidt Malgorzata , Du Sart Desirée 
Published: August 2005

AbstractWe reviewed 122 cases of balanced X‐autosome translocations in females, with respect to the X inactivation pattern, the position of the X break point and the resulting phenotype.In 77% of the patients the translocated X chromosome was early replicating in all cells analysed. The break points in these cases were distributed all along the X chromosome. Most of these patients were either phenotypically normal or had gonadal dysgenesis, some had single gene disorders, and less than 9% had multiple congenital anomalies and/or mental retardation.In the remaining 23% of the cases the translocated X chromosome was late replicating in a proportion of cells. In these cells only one of the translocation products was reported to replicate late, while the remaining portion of the X chromosome showed the same replication pattern as the homologous part of the active, structurally normal X chromosome. The analysis of DNA methylation in one of these cases confirmed noninactivation of the translocated segment. Consequently, these cells were functionally disomic for a part of the X chromosome. The presence of disomic cells was highly prevalent in translocations with break points at Xp22 and Xq28, even though spreading of X inactivation onto the adjacent autosomal segment was noted in most of these cases. This suggests that selection against cells with a late replicating translocated X is driven predominantly by a functional disomy X, and that the efficiency of this process depends primarily on the position of the X break point, and hence the size of the noninactivated region. Since the persistence of cells with a late replicating translocated X was usually associated with mental retardation and other abnormalities, it is concluded that the outcome of the selection process against the functional disomy X is the major determinant of the clinical status in most patients with balanced X‐autosome translocations.
Genomics of human dysmorphogenesis
Authors: Wilson Golder N. 
Published: August 2005

AbstractA survey of Mendelian Inheritance in Man emphasizes the large Mendelian contribution to human dysmorphogenesis and contrasts single gene conditions with chromosomal disorders. There were 1761 conditions that involved altered morphogenesis (49% of disease entries), including 1040 multiple defect syndromes and 721 inherited single birth defects. Premature death (36–57%), mental retardation (20–59%), and growth retardation (37–59%) are more frequent in autosomal recessive or X‐linked syndromes, while predisposition to tumorigenesis was more common in dominant (16%) than recessive (3.4%) syndromes. Comparison of the Mendelian conditions with 100 chromosomal disorders showed a strikingly similar spectrum of malformation, with skeletal, craniofacial, eye, epidermal, and neuromuscular systems being most frequently affected. Chromosomal syndromes average 10.6 systems affected per disorder, in contrast to 3.55 for Mendelian syndromes, and pleiotropy does correlate weakly with aneuploid segment length. Genomic understanding of these relationships is still primitive, with 74 of 1609 (4.6%) autosomal conditions and 43 of 152 (29%) X‐linked conditions mapped to specific chromosomal regions. The societal toll of human dysmorphogenesis and the evident progress with X‐linked disorders provide a powerful rationale for the Human Genome Project.
Early prenatal diagnosis of polycystic pancreas with narrow thorax and short limb dwarfism
Authors: Bronstein M. , Reichler A. , Borochowitz Z. , Bejar J. , Drugan A. 
Published: August 2005

AbstractWe describe the ultrasound findings of polycystic pancreas with short rib dwarfism in the early second trimester. Radiologic, morphologic, and histologic examination after pregnancy termination confirmed the findings and also disclosed dysplastic kidneys. The skeletal anomalies are similar to those in Verma Naumoff type of short rib polydactyly, but the extraskeletal malformations have never been reported before in this syndrome. © 1994 Wiley‐Liss, Inc.
Congenital abnormalities associated with limb deficiency defects: A population study based on cases from the Hungarian congenital malformation registry (1975–1984)
Authors: Evans J. A. , Vitez M. , Czeizel A. 
Published: August 2005

AbstractLimb deficiency defects (LD) occurring among 1,575,904 births in Hungary during 1975–1984 were reviewed. The overall birth prevalence of LD was 1 in 1,816. This paper discusses the nature and distribution of the limb and other defects in the 275 (32%) children who had structural malformations in other systems. Two main forms of classification were used: morphologic and causal.Additional malformations were most commonly seen in infants with amelia, rudimentary limb (RL), radial/tibial (RT), intercalary or central axis (CA) LD and rarely in those with terminal transverse (TT) or ulnar/fibular (UF) defects. Upper limbs (81%) were involved significantly more often than lower limbs (42%) and there were more right‐sided defects (83% vs. 71%) due to an excess of right arm involvement especially with radial ray and split hand anomalies. Single limb involvement was relatively common withy amelia (88%), UF (82%), RT (50%), and TT defects. With other LD, multimelic involvement was more characteristic. This was usually symmetric with Ca anomalies and digital deficiencies (DD).From a causal perspective, 17% of cases had genetic disordes, 52% had recognized associations, anomalies, sequences, environmental causes or patterns of unknown origin, and 31% had unknown patterns of malformations. The commonest entities were amnion disruption sequence (16% of cases) and VACTERL association (8%). Both of these disorders showed unusual temporal distribution.As anticipated, patterns of malformations differed with the type of LD. Amelia and digital amputations were often seen with body wall defects, atypical anencephaly or encephalocele, and cleft lip reflecting amnion disruption. Rudimentary limb was seen with anencephaly, omphalocele, renal agenesis, aberrant genitalia, and imperforate anus, reflecting defects of blastogenesis including the cloacal exstrophy and caudal regression sequences and Schisis association. Radial/tibial defects were associated with different patterns depending on whether the limp defects were unilateral or bilateral. Unilateral defects occurred with anomalies suggesting VACTERL association or the facio‐auriculo‐vertebral anomaly, while bilateral defects occured more often in genetic or potentially genetic disorders including VACTERL with hydrocephalus. Central axis defects showed three main patterns of association: one reflecting the ectrodacyly‐ectodermal dysplasia‐clefting syndrome; one with tongue anomalies representing a variant of oro‐mandibular‐limb (Hanhart) anomaly, and the last with hydronephrosis indicating a group of “acrorenal” syndromes. Strong associations with other anomalies were not seen in the grups with TT, UF, or intercalary defects. © 1994 Wiley‐Liss, Inc.
Two patients with overlapping de novo duplications of the long arm of chromosome 9, including one case with Di George sequence
Authors: Lindgren Valerie , Rosinsky Barbara , Chin Janet , Berry‐Kravis Elizabeth 
Published: August 2005

AbstractDuplications of chromosome 9q are rare. We describe the cytogenetic and phenotypic findings in 2 patients, one with a large duplication covering most of 9q (q12–q33.2) and one with a smaller duplication (q21.12–q22.1) who had Di George sequence (DGS). The chromosome 9 origin of the extra material in the second case was confirmed by fluorescence in situ hybridization (FISH) analysis with a whole chromosome 9 paint. Microdeletions of chromosome 22 are common in DGS and have been reported in CHARGE association. This is the first report of an association of a chromosome 9 abnormality with DGS in the absence of a chromosome 22 abnormality and the seventh report of a patient with a duplication of a large portion of 9q (q11–q13 to q32–q33). © 1994 Wiley‐Liss, Inc.
New case of axial mesodermal dysplasia sequence: Epidemiologic evidence of a single entity
Authors: Martínez‐Frías María Luisa , Gomar Juan‐Luis 
Published: August 2005

AbstractWe describe a child with manifestations of the oculo (facio)‐auriculo‐vertebral specturum and caudal dysgenesis. This is sixth axial mesodrmal dysplasia sequence case to be reported. The infant was ascertained through the Spanish Collaborative Study of Congenital Malformations (ECEMC). It was possible to calculate the prevalence figure for the association of both conditions in the same child, as well as its expected chance frequency. Comparison of the expected with the observed frequency supports the suggestion that the concurrence of oculo(facio)‐auriculo‐vertebral sequence and caudal dysgenesis could well constitute a single entity. © 1994 Wiley‐Liss, Inc.
Global intellectual deficits in cystinosis
Authors: Williams Barbara L. H. , Schneider Jerry A. , Trauner Doris A. 
Published: August 2005

AbstractFourteen families of children with infantile nephropathic cystinosis were evaluated using the Standford‐Binet Intelligence Scale, Fourth Edition [Thorndike et al., 1986: Stanford‐Binet Intelligence Scale, Fourth Ed.]. The IQs of 15 children with cystinosis, their 23 sibs and 24 parents were compared in order to evaluate a potential effect of cystinosis on intelligence. Children with cystinosis had a significantly lower lmean IQ then their sibs and their parents (P = .001). Thus, even though the mean IQ of the children with cystinosis (94.4 ± 10) was within the average range, there is evidence that these children have a mild global intellectual deficit relative to their expected IQ based upon the IQs of other relatives. In addition, to a subset of the subjects we administered a measure of scholastic ability, the Wide Range Achievement Test‐Revised [Jastak and Wilkinson, 1984: The Wide Range Achievement Test‐Revised], which consists of spelling, reading, and arithmetic substests. The 11 cystinosis subjects scored significantly lower (P = .01) than their 16 sibs and their 14 parents in the area of spelling, whereas they did not significantly differ in their performance in the areas of reading and arithmetic. © 1994 Wiley‐Liss, Inc.
Novel amino acid substitution in the Y‐position of collagen type II causes spondyloepimetaphyseal dysplasia congenita
Authors: Sulko J. , Czarny‐Ratajczak M. , Wozniak A. , Latos‐Bielenska A. , Kozlowski K. 
Published: August 2005

AbstractWe report on monozygotic twins with short stature and severe spondyloepimetaphyseal dysplasia congenita (SEMDC) from the Polish population. Phenotype of the twin girls resembles spondyloepiphyseal dysplasia congenita Spranger–Wiedemann (SEDC‐SW), but shortening of the stature is more severe and the cranioface is normal. The distinctive radiographic features, in spite of similarity to SEDC‐SW, indicate different spinal and, notably, severe metaphyseal involvement. Molecular analysis of the COL2A1 gene revealed an A to G transition at nucleotide +79 of exon 41 that converted the codon for arginine at amino acid 792 to a codon for glycine (Arg792Gly). The twins were heterozygous for the mutation and neither parent had this change. The Arg792Gly substitution is located at the Y‐position of Gly‐X‐Y triplet, and it is likely that this substitution decreased the thermal stability of the triple helix and may affect fibril growth by replacement of an arginine residue, which is important for a conformation of the triple helix. © 2005 Wiley‐Liss, Inc.
An MCA/MR syndrome with hypocholesterolemia due to familial hypobetalipoproteinemia: Report of a second patient with Nguyen syndrome
Authors: Nakane Takaya , Hayashibe Hidemasa , Nakazawa Shinpei 
Published: August 2005

Abstract[Nguyen et al. (2003); Am J Med Genet 121A: 109–112] reported a boy with severe hypocholesterolemia due to autosomal dominant hypobetalipoproteinemia (ADBHL) associated with severe growth retardation, mental deficiency, epicanthal folds, a short nose with low nasal bridge and anteverted nares and bilateral partial cutaneous syndactyly of toes 2 and 3. Many of these manifestations resembled those in a mild form of Smith–Lemli–Opitz syndrome (SLOS). We report on a 13‐year‐old boy with ADHBL, who manifested a SLOS‐like phenotype, including mental retardation and a characteristic face, similar to that of a patient reported by [Nguyen et al. (2003); Am J Med Genet 121A: 109–112]. Our patient supports the hypothesis by [Nguyen et al. (2003); Am J Med Genet 121A: 109–112] that ADHBL induced cholesterol deficiency has a significant effect on morphogenesis during embryogenesis, although additional genetic or environmental factors may be required to develop an SLOS‐like phenotype in individuals with ADHLB. This is a second case of Nguyen syndrome. © 2005 Wiley‐Liss, Inc.
Cranial base morphology in association with intentional cranial vault deformation
Authors: William McNeill R. , Newton George N. 
Published: August 2005

AbstractComparison of vault and basal dimensions in 86 Amerind crania revealed that artificial deformation is associated with elevation of frontal orbital processes and temporal petrous crests, restriction of normal downward rotation of foramen magnum, and flattening of mid‐saggital cranial base. Circumferentially deformed crania were modified to a greater degree than antero‐posteriorly deformed skulls. While degree of basal deformation was dependent upon type of vault deformation, this study could not demonstrate the existence of a relationship between type of vault deformation and direction of cranial base modification.
The skull of the lion marmoset Leontideus rosalia linneaus: A study in biomechanical adaptation
Authors: Lloyd Du Brul E. 
Published: August 2005

AbstractThe lion marmoset (Leontideus rosalia Linneaus) is unique among primates in that it has a pair of deep fossae on either side of the midiine near the middle of the underside of its cranium. The entire cranium is elongated, having the appearance of being stretched in its middle third as compared with all other marmosets. The muscles that arise in this region (medial and lateral pterygoids) are a part of this complex. The medial pterygoid is especially elaborated. It is composed of three heads, one of which arises in a pocket bulging the lateral pterygoid plate inward, high above the floor of the orbit on its medial side.Insight as to the meaning of these structures emerges when a carefully composed “natural experiment” is set up. Parallel series of skulls arranged in order of increase in size in primates more and more remotely related to marmosets show parallel sets of changes in Callithricidae (marmosets), Cebidae (New World monkeys), Cercopithecidae (Old World monkeys), and Hominoidea (apes and man). Smaller skulls have orbits closely pressed together, separated only by a simple bony septum. As skulls increase in size the orbits move apart to be separated, first by slight hollows in the skull base, then progressing to increasingly complicated air or marrow spaces.The phenomenon thus seems to be a special problem of allometry. As the skull becomes larger viscerocranial increase outstrips neurocranial enlargement. These two elements are then bridged by stronger and more complex buttressing which seem clearly to be local biomechanical adaptations to the new spatial arrangement. The sinuses are simply the spaces between the braces.
Anthropological and physiological observations on Tarahumara endurance runners
Authors: Balke Bruno , Snow Clyde 
Published: August 2005

AbstractThe Tarahumara Indians of Northwestern Mexico have long been famous as endurance runners. These capabilities are best displayed in the traditional Tarahumara sport of kick‐ball racing. Participants in such races may cover up to 100 miles in 24 hours and races lasting 48 hours are not uncommon. This paper presents findings of a preliminary study of Tarahumara endurance capabilities. The data indicate that experienced kick‐ball racers are capable of energy expenditures of more than 10,000 Kcal/24 hour‐a figure which is generally considered to repre‐sent the upper limits of human voluntary work effort. The aerobic work capacity of Tarahumara boys, who had attended a Mission boarding school for several years, was not significantly different from that of their Mestizo classmates. Unacculturated Tarahumara boys excelled both of these latter groups in physical performance.
Caryology and taxonomy of the Catarrhine monkeys
Authors: Chiarelli B. 
Published: August 2005

AbstractThe number and the morphology of chromosomes are a characteristic of the species. Knowledge of the mechanisms of chromosome breakage and rearrangement offers the possibility of understanding caryotype evolution. On the basis of this knowledge, we can trace the phylogeny and organize the taxonomy of a group of living forms. In the present paper, the available data on the number and morphology of the chromosomes of the Catarrhine monkeys have been analyzed from the standpoint of taxonomy and evolution. According to this karyological revision, the suborder Catarhine might be divided into two groups (superfamilies): Cercopithecoidea and Hominoidea. Within the Cercopithecoidea the following main groups should be further distinguished: 1. a group which includes all the species of the genus Cercopithecus; 2. a group which includes the different species belonging to the genera Papic, Macaca, Theropithecus and Cercocebus; 3. a group which includes the genus Colobus, Presbytis and Hylobates. Within the Hominoidea, the three anthropoid apes (Pan, Pongo, Gorilla) can be distinguished from man by the difference in the number of chromosomes. Moreover, among the anthropoid apes, the Orang‐outang can be differentiated from the others by the morphology of the chromosomes.
Occlusofacial relationships in the mature howler monkey (Alouatta caraya)
Authors: Zingeser M. R. 
Published: August 2005

AbstractThe facial orientation of the occlusal (functional) aspect of the normal human dentition is remarkably invariant. A comparative study, using mature howler monkeys (Alouatta caraya) was undertaken to elucidate further the nature of these characteristics. The monkey data show comparable small variability. The possible adaptive significance of these occlusofacial relationships of small variability is discussed.
The skin of primates XXIX. The skin of the pigmy bushbaby (Galago demidovii)
Authors: Machida H. , Perkins E. , Giacometti L. 
Published: August 2005

AbstractThe skin of the pigmy bushbaby (Galago demidovii), the smallest existing prosimian, is largely similar to that of the other African Lorisidae, although this animal has certain peculiar features. The very thin epidermis contains alkaline phosphatase‐reactive dendritic cells which resemble those in the other bushbabies and the potto. The hair follicles of this animal are similar to those of the lesser bushbaby, while the sebaceous glands are different from those of the other bushbabies in being reactive for alkaline phosphatase. The histological and histochemical properties of the sweat glands are similar to those of the other bushbabies.
Phenylthiocarbamide taste sensitivity and its relationship to growth variation
Authors: Johnston Francis E. , Hertzog Keith P. , Malina Robert M. 
Published: August 2005

AbstractThe hypothesis that there is a relationship between the tasting polymorphism and growth variation was tested on a sample of 425 Negro elementary school children. Twenty‐seven non‐tasters were found by testing with impregnated papers; 13 were male, 14 female, indicating no sex differences in this group. Matchedpair comparisons indicated no differences in weight, a tendency for tasters to be taller, and a stronger tendency for tasters of both sexes to be skeletally more mature. It was felt that the tendency for tasters to be taller might reflect their more advanced maturation status. The relationship to skeletal maturation might be indicative of the decreased thryoid activity found in other studies of phenylthiocarbamide tasting.
The skin of primates XXX. The skin of the woolly monkey (Lagothrix lagotricha)
Authors: Machida H. , Perkins E. 
Published: August 2005

AbstractThe anatomical and histochemical features of the skin of the woolly monkey are intermediate between those of the Cercopithecoidea and the Pithecoidea. The animal has a prehensile tail, the glabrous, friction surface of which is similar to that of the fingers. The epidermis is heavily pigmented. The dermal vascularization is relatively well‐developed and similar to that of the skin of the Cercopithecoidea. Hair follicles grow in groups of 4 to 15, as in the skin of the Pithecoidea. In the hairy skin, eccrine sweat glands occur only in the tail and genitalia. The woolly monkey, like the green monkey, possesses only acetylcholinesterase‐containing nerve fibers around its eccrine sweat glands.
The population characteristics of howler monkeys (Alouatta caraya) in Northern Argentina
Authors: Pope Betty Locker 
Published: August 2005

AbstractHowler monkeys, Alouatta caraya, were collected in family groups from islands in the Rio Parana in northern Argentina. The body weights, lens weights, dental age and reproductive status of 261 individuals illustrated sexually dimorphic body weights after a period of accommodation as young adults, a large proportion of older females (even though there are more young adult males than females) and a higher percentage of pregnancies among these older females. Seventeen families, representing the entire social system of one island, showed that about three quarters were adult (equally divided between the sexes but with fewer older males than females) and the remaining quarter were immature (with an equal sex ratio). Half of the adult females were either pregnant or suckling young. The mean family size is seven which includes peripheral males. Group size and composition as well as adult to immature proportions compared closely with data on A. caraya in the Chaco of Argentina and the 1951 census of A. palliata on Barro Colorado Island. It can be said that when these two species of Alouatta occur in small size families, they have in common: a high proportion of adults to immature, a low proportion of infants, and can have either an equal sex ratio (A. caraya) or preponderance of females (A. palliata).
Catawba Indians: Morphology, genetics, and history
Authors: Pollitzer William S. , Phelps David S. , Waggoner Robert E. , Leyshon Webster C. 
Published: August 2005

AbstractThe Catawba Indians of South Carolina appear to be descendants of the once flourishing Siouan tribe now admixed primarily with Whites of the area. Study of physical traits and blood types was made in 1962 at the time they terminated reservation status. The data permit comparisions with other populations and an estimation of the genetic contribution of presumed parental populations to the hybrid. Skeletal remains of Siouan Indians from archeological sites in the area provide a basis for morphological comparisons. Similar ties of the Catawba to the Indian Knoll people of Kentucky and to the Occaneechi people of early historic times are noted. Results of blood typings of these ancient bones also enable some tentative serological comparisons with the present day Catawba Indians. Certain unusual factors in the history of the present population have affected their isolation and admixture, and this interaction of culture and biology is explored.