bluuebunny/crossref_metadata_2025 huggingface dataset:
Two craniosynostotic patients with 11q deletions, and review of 48 cases
Authors: Lewanda Amy Feldman , Morsey Susan , Reid Cheryl S. , Jabs Ethylin Wang
Published: June 2005

Many chromosomal abnormalities have craniofacial manifestations. One such abnormality, partial monosomy of chromosome 11q, is associated with metopic synostosis and resultant trigonocephaly. We reviewed 48 published cases of 11q deletions and translocations. Eighty percent were associated with abnormal head shape. Also commonly found were hypertelorism, ptosis of the eyelids, wide or low nasal bridge, apparently low‐set malformed ears, down‐turned mouth, micro/retrognathia, digital and cardiac anomalies, and psychomotor retardation. We report on two patients referred for abnormal head shape. The first case had brachycephaly, flat occiput, hypertelorism, and maxillary hypoplasia. Karyotype was 46,XY,del(11)(q24.1→qter). The second patient had trigonocephaly, hypotelorism, posteriorly angulated ears, horizontal crease below his lower lip, syndactyly, shawl scrotum, cryptorchidism, and inguinal hernias. Karyotype showed partial trisomy of chromosome 4q as well as partial monosomy of 11q [46,XY,11,+der(11)t(4;11)(q31.3;q25)], a combination not previously reported. Deletions of 11q appear to produce a wide spectrum of abnormalities. © 1995 Wiley‐Liss, Inc.
Infundibulopelvic stenosis, multicystic kidney, and calyectasis in a kindred: Clinical observations and genetic analysis
Authors: Kobayashi Megumi , Kaplan Bernard S. , Bellah Richard D. , Sartore Maria , Rappaport Eric , Steele Mark W. , Mansfield Elaine , Gasparini Paolo , Surrey Saul , Fortina Paolo
Published: June 2005

Congenital obstructive anomalies of the urinary tract usually occur sporadically. We describe inheritance in a three‐generation kindred of a spectrum of kidney anomalies consistent with an autosomal‐dominant mode of transmission, with incomplete penetrance, calyectasis (maternal grand‐mother), infundibulopelvic stenosis (uncle), and multicystic kidney (male proband, age 4 years). The proband's mother, father and half sister had normal renal imaging studies. Inheritance of informative polymorphic markers (3′‐HVR, GGG1, GGG9, SM‐7, KG8, and CW3) mapping close to the adult polycystic kidney disease type 1 (PKD‐1) and tuberous sclerosis (TSC‐2) loci on chromosome 16p was evaluated by Southern blot studies and by PCR‐based, fluorescent geno‐typing for linkage to phenotype. The 3 affected individuals, as well as the unaffected mother (obligate carrier) and unaffected half‐sister, inherit a common chromosome haplotype linked to the PKD1 locus. Our findings support the hypothesis that these anomalies may be part of a spectrum of obstructive renal dysplasia which are inherited as a simple Mendelian trait exhibiting an autosomal‐dominant mode of transmission with variable expression and incomplete penetrance. © 1995 Wiley‐Liss, Inc.
Familial microtia with meatal atresia and conductive deafness in five generations
Authors: Gupta Ajay , Patton Michael A.
Published: June 2005

We describe a large family with congenital microtia, auditory meatal atresia and conductive deafness. The pedigree suggests autosomal dominant inheritance with variable expression and low penetrance. The literature is also reviewed to describe the inheritance pattern and clinical spectrum noted in this rare syndrome so far. The family is unique because the set of otologic anomalies in five generations was associated with renal cysts in one of the affected members, suggesting that this oto‐renal (OR) syndrome may represent a variable expression of the branchio‐oto‐renal (BOR) syndrome. However, the probability is that this dominant malformation syndrome is a distinct entity. © 1995 Wiley‐Liss, Inc.
Cardiac abnormalities in the Rubinstein‐Taybi syndrome
Authors: Stevens Cathy A. , Bhakta Manoo G.
Published: June 2005

In order to evaluate the incidence of cardiac anomalies, type of cardiac defects, and their impact in the Rubinstein‐Taybi syndrome (RTS), a questionnaire study was done. Fortyfive of 138 patients in the study (32.6%) had a known cardiac abnormality; 27 patients had single defects including atrial septal defect (ASD), ventricular septal defect (VSD), patent ductus arteriosus (PDA), coarctation of the aorta, pulmonic stenosis, or bicuspid aortic valve. Eight of these individuals had spontaneous resolution of their problems, while 8 required surgery. Sixteen patients had complex congenital heart defects or two or more abnormalities. Two patients had spontaneous resolution, while 7 required surgery. Surgery is planned in 5 additional patients. Five patients had conduction abnormalities. Individuals with congenital heart defects did not have a higher incidence of other birth defects. The significant incidence and potential severity of cardiac anomalies in our patients suggest that a cardiac evaluation should be strongly considered in patients with RTS. © 1995 Wiley‐Liss, Inc.
Goldenhar sequence and mosaic trisomy 22
Authors: Pridjian Gabriella , Gill William L. , Shapira Emmanuel
Published: June 2005

We describe a term infant with facioauriculo‐vertebral “dysplasia” (Goldenhar sequence), hypertelorism, and mosaic trisomy 22: peripheral blood, 46, XY/47, XY, +22 (72%/28%); skin fibroblasts, 47, XY, +22 (100%). This is the second report of Goldenhar anomaly with epibulbar dermoids in a live‐born infant with aneuploidy. Hypertelorism is rare in Goldenhar sequence, but typical of trisomy 22. We recommend chromosome analysis in all patients with Goldenhar sequence. Those with hypertelorism may be more likely to have aneuploidy as well. © 1995 Wiley‐Liss, Inc.
Miller‐Dieker syndrome due to maternal cryptic translocation t(10;17)(q26.3;p13.3)
Authors: Masuno Mitsuo , Imaizumi Kiyoshi , Nakamura Mihoko , Matsui Kiyoshi , Goto Akiko , Kuroki Yoshikazu
Published: June 2005

We report on a 3‐month‐old girl with Miller‐Dieker syndrome resulting from a maternal full‐cryptic translocation t(10;17)(q26.3;p13.3) detectable only by using fluorescence in situ hybridization (FISH). Parental studies using FISH are crucial for genetic counselling in cases of Miller‐Dieker syndrome with submicroscopic deletion at 17p13.3. In a family with a parental cryptic translocation and high recurrence risk, prenatal diagnosis using FISH is feasible. © 1995 Wiley‐Liss, Inc.
Association of anophthalmia and esophageal atresia
Authors: Sandler Daniel , Mancuso Anthony , Becker Troy , Zori Roberto , Hellrung John , Silverstein Janet , Burton Valerie , Hamosh Ada , Williams Charles
Published: June 2005

We report on a boy and a girl with bilateral anophthalmia and proximal esophageal atresia. In addition to vestigial optic nerves and chiasma, MRI studies showed other central nervous system abnormalities; one had ectopic tissue in the hypothalamic region, and the other had generalized ventriculomegaly associated with atrophy. Two other cases, both males, have been reported with anophthalmia and esophageal atresia as their only malformations. These 4 cases are reviewed in light of recent advances in the understanding of ocular embryogenesis and of the midbrain as a developmental field. Concurrence of these defects appears to be non‐random. © 1995 Wiley‐Liss, Inc.
Why is the reproductive performance lower in Becker (BMD) as compared to limb girdle (LGMD) muscular dystrophy male patients?
Authors: Eggers Sabine , Lauriano Valèria , Melo Marcio , Takata Reinaldo Issao , Akiyama Jeanne , Passos‐Bueno Maria Rita , Gentil Valentim , Frota‐Pessoa Oswaldo , Zatz Mayana
Published: June 2005

We had previously reported that patients affected with BMD have a significantly reduced reproductive performance (f = 0.12) as compared to male LGMD patients of similar age and physical impairment (f = 0.98). In the present study parameters such as the socio‐economic level, as well as psycho‐social, intellectual, and psychiatric functionings could not explain the low fitness of BMD patients. The effect of genetic counseling, a greater difficulty in coping with the disease, and relating to women and/or a potential malfunction of reproductive physiology are discussed as possible causes. © 1995 Wiley‐Liss, Inc.
Chromosomal abnormalities in a psychiatric population
Authors: Lewis Karen E. , Lubetsky Martin J. , Wenger Sharon L. , Steele Mark W.
Published: June 2005

Over a 3.5 year period of time, 345 patients hospitalized for psychiatric problems were evaluated cytogenetically. The patient population included 76% males and 94% children with a mean age of 12 years. The criteria for testing was an undiagnosed etiology for mental retardation and/or autism. Cytogenetic studies identified 11, or 3%, with abnormal karyotypes, including 4 fragile X positive individuals (2 males, 2 females), and 8 with chromosomal aneuploidy, rearrangements, or deletions. While individuals with chromosomal abnormalities do not demonstrate specific behavioral, psychiatric, or developmental problems relative to other psychiatric patients, our results demonstrate the need for an increased awareness to order chromosomal analysis and fragile X testing in those individuals who have combinations of behavioral/psychiatric, learning, communication, or cognitive disturbance. © 1995 Wiley‐Liss, Inc.
Linkage studies on chromosome 22 in familial schizophrenia
Authors: Vallada Homero P. , Gill Michael , Sham Pak , Lim Lionel C. C. , Nanko Shin , Asherson Philip , Murray Robin M. , McGuffin Peter , Owen Michael , Collier David
Published: June 2005

As part of a systematic search for a major genetic locus for schizophrenia we have examined chromosome 22 using 14 highly polymorphic markers in 23 disease pedigrees. The markers were distributed at an average distance of 6.6 cM, covering 70–80% of the chromosome. We analyzed the data by the lod score method using five plausible genetic models ranging from dominant to recessive, after testing the power of our sample under the same genetic parameters. The most positive lod score found was 1.51 under a recessive model for the marker D22S278, which is insufficient to conclude linkage. However, an excess of shared alleles in affected siblings (P < .01) was found for both D22S278 and D22S283. For D22S278, the A statistic was equal to the lod score (1.51) and therefore did not provide additional evidence for linkage allowing for heterogeneity, but the Liang statistic was more significant (P = .002). Our results suggest the possibility that the region around D22S278 and D22S283 contains a gene which contributes to the aetiology of schizophrenia. © 1995 Wiley‐Liss, Inc.
Polymorphism and genetic mapping of the human oxytocin receptor gene on chromosome 3
Authors: Michelini Stefano , Urbanek Margrit , Dean Michael , Goldman David
Published: June 2005

Centrally administered oxytocin has been reported to facilitate affiliative and social behaviours, in functional harmony with its well‐known peripheral effects on uterine contraction and milk ejection. The biological effects of oxytocin could be perturbed by mutations occurring in the sequence of the oxytocin receptor gene, and it would be of interest to establish the position of this gene on the human linkage map. Therefore we identified a polymorphism at the human oxytocin receptor gene. A portion of the 3′ untranslated region containing a 30 bp CA repeat was amplified by polymerase chain reaction (PCR), revealing a polymorphism with two alleles occurring with frequencies of 0.77 and 0.23 in a sample of Caucasian CEPH parents (n = 70). The CA repeat polymorphism we detected was used to map the the human oxytocin receptor to chromosome 3p25‐3p26, in a region which contains several important genes, including loci for Von Hippel‐Lindau disease (VHL) and renal cell carcinoma. © 1995 Wiley‐Liss, Inc.
Possible association between the dopamine D3 receptor gene and bipolar affective disorder
Authors: Parsian Abbas , Chakraverty Sumitra , Todd Richard D.
Published: June 2005

A variety of studies have reported possible genetic associations between bipolar affective disorder and different loci using relative risk (case‐control) comparisons. An alternative approach is to construct a contrast group using parental alleles which were not transmitted to an affected individual [Falk and Rubinstein, 1987: Ann Hum Genet 51:227–233]. We have used both approaches to test for possible associations between alleles of the dopamine D3 receptor gene and bipolar affective disorder. For relative risk studies, the probands of multiple incidence bipolar affective disorder families have been compared to alcoholic and psychiatrically normal contrast groups. Non‐transmitted allele approaches have used bipolar affective disorder and alcoholic probands in which both parents were available for genotyping. Using the BalI restriction enzyme site polymorphism of Lannfelt et al. [1992: Psychiatr Genet 2:249–256], we have found no differences in the allele or genotype frequencies for bipolar vs. alcoholic or psychiatrically normal controls. In contrast, we have found evidence for an increased frequency of allele 1 and allele 1 containing genotypes in transmitted alleles from bipolar families. © 1995 Wiley‐Liss, Inc.
Schizophrenia: A genome scan targets chromosomes 3p and 8p as potential sites of susceptibility genes
Authors: Pulver Ann E. , Lasseter Virginia K. , Kasch Laura , Wolyniec Paula , Nestadt Gerald , Blouin Jean‐Louis , Kimberland Michelle , Babb Robert , Vourlis Sophia , Chen Haiming , Lalioti Maria , Morris Michael A. , Karayiorgou Maria , Ott Jurg , Meyers Deborah , Antonarakis Stylianos E. , Housman David , Kazazian Haig H.
Published: June 2005

Using a systematically ascertained sample of 57 families, each having 2 or more members with a consensus diagnosis of schizophrenia (DSM‐III‐R criteria), we have carried out linkage studies of 520 loci, covering approximately 70% of the genome for susceptibility loci for schizophrenia. A two‐stage strategy based on lod score thresholds from simulation studies of our sample identified regions for further exploration. In each region, a dense map of highly informative dinucleotide repeat polymorphisms (heterozygosity greater than .70) was analyzed using dominant, recessive, and “affected only” models and nonparametric sib pair identity‐by‐descent methods. For one region, 8p22‐p21, affected sib‐pair analyses gave a P value = .0001, corresponding to a lod score approximately equal to 3.00. For 8p22–p21, the maximum two‐point lod score occurred using the “affected only” recessive model (ZMAX = 2.35; θM = θF); allowing for a constant sex difference in recombination fractions found in reference pedigrees, ZMAX = 2.78 (θM/θF = 3). For a second region, 3p26–p24, the maximum two‐point lod score was 2.34 (“affected only” dominant model), and the affected sib‐pair P value was .01. These two regions are worthy of further exploration as potential sites of susceptibility genes for schizophrenia. © 1995 Wiley‐Liss, Inc.
Fragile X syndrome: Discordant levels of CGG repeat mosaicism in two brothers
Authors: Mueller O. Thomas , Hartsfield James K. , Amar Marcelo J. A. , Gallardo Loretta A. , Kousseff Boris G.
Published: June 2005

Fragile X syndrome is associated with an unstable repeated CGG trinucleotide sequence in the 5′ untranslated region of the FMR‐1 gene. A significant number of individuals with a mild or atypical presentation are mosaics for the CGG expansion. We report a family with two brothers. The proband had severe mental retardation as well as most of the Fragile X syndrome stigmata, whereas his brother shows only mild learning difficulties. Both inherited a 80 × CGG trinucleotide premutation from the mother. They were negative for the FRAXA fragile site in over 100 metaphases examined. Flanking markers verified that both had inherited the same FMR‐1 allele and Xq27‐q28 flanking sequences from the mother. The methylation status of the brothers indicated active FMR‐1 transcription as determined by using StB12.3/EcoRI + Eagl blots. CGG size or methylation mosaicism was not apparent from Southern blots. Polymerase chain reaction and chemiluminescent detection identified that both brothers had different degrees of mosaicism for the CGG expansion. Large expansions amounting to 70% of the total were visible in the proband, whereas less than 5% of the signal was larger than the premutation in his mildly affected brother. These findings suggest that mosaicism may be responsible for some of the variation in penetrance in this disorder. © 1995 Wiley‐Liss, Inc.
SCA2 is not a major locus for ADCA type I in French families
Authors: Cancel Géraldine , Stevanin Giovanni , Dürr Alexandra , Chneiweiss Hervé , Penet Christiane , Pothin Yolaine , Agid Yves , Brice Alexis
Published: June 2005

Autosomal dominant cerebellar ataxias (ADCA) of type I, a group of clinically heterogeneous neurodegenerative disorders, are known to be genetically heterogeneous since a second locus for ADCA type I (SCA2) has been identified on the long arm of chromosome 12. Linkage analysis was performed in 7 French ADCA type I families in order to estimate its frequency. We analysed 121 individuals, 39 of whom were affected. In 6 families, the SCA2 candidate interval, spanning 12.8 cM, was excluded by bi‐ and multipoint analysis. In one family (SAL‐315), however, the maximal positive lod score reached 2.03 at the D12S79 locus. A posterior probability of 94% in favor of linkage to SCA2 was calculated by homogeneity analysis. The clinical profile of this family was similar to that of previously described SCA1 and non‐SCA1 families, except that dementia was observed in 2 out of 6 patients. This may be a clinical idiosyncrasy in this family and was insufficient for a genotype‐phenotype correlation. © 1995 Wiley‐Liss, Inc.
Monoamine oxidases and alcoholism. II. Studies in alcoholic families
Authors: Suarez B. K. , Hampe C. L. , Parsian A. , Cloninger C. R.
Published: June 2005

Thirty‐five alcoholic families have been studied to investigate the relationship between DNA markers at the monoamine oxidase (MAO) loci and (1) platelet activity levels and (2) alcoholism. A quantitative linkage analysis failed to reveal any evidence that the variation in activity levels cosegregates with the DNA markers. A sib‐pair analysis did not reveal a significant excess of MAO haplotype sharing among alcoholic sibs, although the deviation from random sharing was in the direction consistent with an X‐linked component. A reanalysis of platelet MAO activity levels in a subset of these families revealed that the lower levels previously found in alcoholics is more likely due to the differences between males and females. Only among males and only when a “broad” definition of alcoholism is used (and MAO activity levels are transformed to normality) does it appear that alcoholics have depressed activities compared to nonalcoholics. Finally, when the confounding due to gender difference is removed, no differences between type I and type II alcoholics are found in these families. © 1995 Wiley‐Liss, Inc.
Apolipoprotein E in the genetics and epidemiology of Alzheimer's disease
Authors: Hardy John
Published: June 2005

The role of apolipoprotein E (ApoE) alleles and isoforms in the etiology and pathogene‐sis of Alzheimer's disease is discussed. The possibility that ApoE itself is not involved in the disease pathogenesis but is merely in genetic disequilibrium with the real locus is discussed and dismissed. The data showing that ϵ4 allele is associated with an increased risk of developing the disease and with an earlier onset age are reviewed. The data showing that, at least in some circumstances, the ϵ2 allele is associated with a decrease in the risk of developing the disease, and with a later onset age are also reviewed. Data from the genetic analysis of other disorders are reviewed and presented, and it is suggested that the genetic data support the notion that the role of ApoE in the etiology of the disease directly relates to β‐amyloid deposition and plaque formation. This suggestion is in concordance with the most likely mechanism for the role of β‐amyloid precursor protein gene mutations as other risk factors for the disease. © 1995 Wiley‐Liss, Inc.
Obsessive compulsive disorder and mood disorders: A family study
Authors: Sciuto Gabriella , Pasquale Lorenza , Bellodi Laura
Published: June 2005

Obsessive compulsive disorder (OCD) often coexists with major depression (MD), with rates varying from 35 to 75%. The nature of the depressive symptomatology can be investigated by familial aggregation analysis, assuming that the disorder which occurs first is the one showing greater genetic liability and should have higher familial concentration. Therefore, the aim of our study was to assess the familial loading for OCD and mood disorders in the families of OCD patients with different chronology of onset for the mood disorder, to evaluate how the familial pattern of the diseases differs with different temporal sequences in which the two syndromes occur. A total of 172 OCD patients entered the study; 112 were pure OCD probands, 12 were unable to separate the onset of the two syndromes, 11 had prior mood disorder, and 37 of them had experienced their first depressive episodes after the onset of OCD.

Information about the family history was collected by means of the Family History‐Research Diagnostic Criteria (FH‐RDC) and by directly interviewing at least 2 relatives per family. Morbidity risks for OCD indicate a familial concentration of the disorder in all groups, except the MD/OCD group. We found the highest rate of relatives affected by mood disorders in the families of patients with first onset of MD (28.8%), whereas in the other 3 groups MRs were much lower. These results suggest the affective nature of OCD patients who experienced first onset of MD. Thus, the chronology of onset seems to identify 2 different typologies of familial distribution. © 1995 Wiley‐Liss, Inc.
Linkage results on 11Q21‐22 in Eastern Quebec pedigrees densely affected by schizophrenia
Authors: Maziade M. , Raymond V. , Cliche D. , Fournier J. P. , Caron C. , Garneau Y. , Nicole L. , Marcotte P. , Couture C. , Simard C. , Boivin R. , Rodrigue C. , Boutin P. , De Braekeleer M. , Martinez M. , Mérette C.
Published: June 2005

The 11q21‐22 region is of interest for schizophrenia because several candidate genes are located in this section of the genome. The 11q21‐22 region, including DRD2, was surveyed by linkage analysis in a sample (N = 242) made of four large multigenerational pedigrees densely affected by schizophrenia (SZ) and eight others by bipolar disorder (BP). These pedigrees were ascertained in a large area of Eastern Quebec and Northern New Brunswick and are still being extended. Family members were administered a “consensus best‐estimate diagnosis procedure” (DSM‐III‐R criteria) blind to probands and relatives' diagnosis and to pedigree assignment (SZ or BP). For linkage analysis, 11 microsatellite polymorphism (CA repeat) markers, located at 11q21‐22, and comprising DRD2, were genotyped. Results show no evidence of a major gene for schizophrenia. However, a maximum lod score of 3.41 at the D11S35 locus was observed in an affected‐only analysis of one large SZ family, pedigree 255. Whether or not the positive linkage trend in pedigree 255 reflects a true linkage for a small proportion of SZ needs to be confirmed through the extension of this kindred and through replication. © 1995 Wiley‐Liss, Inc.
Analysis of clozapine response and polymorphisms of the dopamine D4 receptor gene (DRD4) in schizophrenic patients
Authors: Shaikh S. , Collier D. A. , Sham P. , Pilowsky L. , Sharma T. , Lin L. K. , Crocq M. A. , Gill M. , Kerwin R.
Published: June 2005

We have examined the hypothesis that a variable number of tandem repeats in the third cytoplasmic loop of the dopamine D4 receptor influences clinical response to clozapine using a sample of 189 schizophrenic patients. Alleles of the 48‐bp repeat, which range from two to ten copies in the normal human population, were analysed by the polymerase chain reaction using genomic DNA as template. Association between these alleles and response to clozapine was tested using the difference in pre‐and post‐treatment GAS scores as a measure of response. We found no statistically significant variation between genotypic groups and response by analysis of variance. We conclude that the variation of the number of 48‐bp repeats alone does not determine response to clozapine. Larger studies are underway to determine if there is a more subtle relationship with sequence variation within the repeats or at other polymorphic sites within the gene that may provide evidence for a component of clozapine's action being at D4 receptors. © 1995 Wiley‐Liss, Inc.
Correlates of maladaptive behavior in children and adults with Prader‐Willi syndrome
Authors: Dykens Elisabeth M. , Cassidy Suzanne B.
Published: June 2005

Four features of maladaptive behavior were examined in 25 children and 61 adults with Prader‐Willi syndrome: age, gender, IQ, and the Body Mass Index (BMI). Among children, older subjects showed increased symptomatology relative to younger subjects, especially in depression and withdrawal. Among adults, maladaptive behaviors seem to show both steady and variable expressions, waxing and waning over time. Boys showed heightened depression relative to girls, findings which were not seen in the adults. No maladaptive behavior differences were found in high vs. low IQ subjects. Thinner adults with lower BMIs had higher maladaptive behavior scores relative to heavier subjects, particularly in internal states involving distressful affect and problems with thinking. Several explanations of these counterintuitive BMI findings are discussed, as is the need for prospective research on maladaptive behavior in children and adults with this syndrome. © 1995 Wiley‐Liss, Inc.
Evidence for apolipoprotein E ϵ4 association in early‐onset Alzheimer's patients with late‐onset relatives
Authors: Pérez‐Tur Jordi , Campion Dominique , Martinez Maria , Brice Alexis , Tardieu Sandrine , Hannequin Didier , Agid Yves , Delacourte André , Clerget‐Darpoux Françoise , Chartier‐Harlin Marie‐Christine
Published: June 2005

Recently several reports have extended the apolipoprotein E (APOE) ϵ4 association found in late‐onset Alzheimer's disease (LOAD) patients to early‐onset (EO) AD patients. We have studied this question in a large population of 119 EOAD patients (onset ⩽60 years) in which family history was carefully assessed and in 109 controls. We show that the APOE ϵ4 allele frequency is increased only in the subset of patients who belong to families where LOAD secondary cases are present. Our sampling scheme permits us to demonstrate that, for an individual, bearing at least one ϵ4 allele increases both the risk of AD before age 60 and the probability of belonging to a family with late‐onset affected subjects. Our results suggest that a subset of EOAD cases shares a common determinism with LOAD cases. © 1995 Wiley‐Liss, Inc.
The effectiveness of sampling methods in detecting copulatory behavior in Macaca arctoides
Authors: Estep Daniel Q. , Johnston Marcia E. , Gordon Thomas P.
Published: June 2005

The copulatory behavior of a social group of 18 stumptail macaques was observed for 171 hours over a period of 5 months. The occurrence of copulation and several quantitative measures of copulation were compared using sampling periods of 2 hours daily and continuous dawn‐to‐dusk observation. In this environment copulation was found to occur in brief bouts of relatively short duration. Copulation was detected on 34% of the days observed with 2 hr sampling and 100% of the days with DTD sampling. Thus, brief limited‐time samples of behavior are not adequate for reliably detecting copulation in this species under social group‐living conditions.
Use of primates for wear testing of dental restorative materials
Authors: Gettleman Lawrence
Published: June 2005

The mechanical loss of substance, both of teeth and man‐made materials used to fill or replace teeth, principally occurs by attrition (the grinding of one tooth against another) or abrasion due to coarse particles present in the diet, dentifrices, or as products of the grinding itself. Nonhuman primates often have pronounced grinding or bruxing habits that serve to sharpen the teeth. Papio anubis baboons were used as a model to study the ability of teeth and restorative materials to withstand continual two‐ or three‐body wear. One test site used the mandibular first premolars, occluding with the maxillary canines. For other studies, fixed appliances were cemented to the upper and lower incisors allowing placement of materials. Periodically, replica models of the surfaces were made for examination in a scanning electron microscope. Detailed descriptions of the morphological changes and/or failure of the materials appear elsewhere. It was found that the nonhuman primate model provides a rapid test of physiologic and pathologic wear of dental materials. It differs from the human situation only in the lack of good oral hygiene and the absence of extremes of thermal variations.
Longitudinal stability in adult status hierarchies among vervet monkeys (Cercopithecus aethiops)
Authors: Bramblett Claud A. , Bramblett Sharon S. , Bishop Dava A. , Coelho Anthony M.
Published: June 2005

Status hierarchies were examined in a captive group over a 12‐year period (1968–1979) to establish the stability and structure of vervet monkey dominance relationships. Dyadic records of spontaneous avoid, bite, chase, and supplant behaviors are summarized into a win/lose matrix to produce a rank order of status at the end of each calendar year. The 13,717 agonistic acts tabulated are drawn from both focal and ad lib data. Relative rank is computed by dividing the rank position of each individual by the number of individuals ranked for that year. Relative rank was found to be quite stable for adults of both sexes, although males were more variable than females. There was a strong matinrline effect on all captive born animals' rank position. No gender difference in rank was demonstrable. Infants were very subordinate at the end of their first year, but rose to positions near those of their mothers by the end of the fourth year. Presence or absence of canine teeth had no demonstrable effect on status. The results emphasize the relative importance of social learning in the establishment and maintenance of dominance relationships. The apparent gender difference in rank among wild living vervets is hypothesized to be a consequence of the male intergroup mobility. If a male is restrained from emigration, he is strongly affected by his mother's rank as he establishes his own dominance position in the troop.
Longitudinal observations of care and development of infant titi monkeys (Callicebus moloch)
Authors: Fragaszy D. M. , Schwarz S. , Shimosaka D.
Published: June 2005

The purpose of this study was to describe patterns of infant care and development in family groups of the monogamous titi (Callicebus moloch). Three infant titis were observed with their natal family groups over the first six months of life. Field observations of extensive male involvement with infants were confirmed. Adult males were clearly the infants' primary social companions, and infants spent more time in contact with adult males at all ages than with mothers or older siblings. However, mothers and siblings also carried infants at times and interacted with them in affiliative ways (e.g., grooming, nuzzling, play). Mothers often invited nursing, but otherwise it was infants who primarily initiated transfers between carriers and approaches to parents, reminding us that the infants' own activities and their effects on caregivers should not be overlooked in considerations of the patterns of infant care. This is particularly important for those species exhibiting extensive parental involvement by males. It is suggested that substantial male care of young titi infants leads to several important consequences for the infant's social development, including the development of a stronger attachment to the father than the mother.
Venipuncture and vaginal swabbing in an enclosure occupied by a mixed‐sex group of stumptailed macaques (Macaca arctoides)
Authors: Bunyak Steven C. , Harvey Nancy C. , Rhine Ramon J. , Wilson Marco I.
Published: June 2005

Procedures are described for vaginal swabbing and venipuncture in a gang‐caged, mixed‐sex group of stumptailed macaques. The design of the gang cages facilitated venipuncture and swabbing which were done without undue disturbance of the vivarium routine, without seriously stressing colony members, and without interfering with the monkeys' established social relationships.
Diagonal walking in captive infant vervet monkeys
Authors: Hurov Jack R.
Published: June 2005

The frequency of use of diagonal walking by three motorically immature vervet monkeys (Cercopithecus aethiops) is discussed. The subjects were housed at The Balcones Research Center (Austin, Texas) and ranged from 15–105 days of age. Mixed longitudinal data taken from film indicated that lateral walknig was the first gait employed by the infant vervets studied, but that diagonal walking completely replaced lateral walking by 81 days of age. These data were compared with those of captive infant Macaca mulatta, and feral infant Papio anubis. General agreement was found regarding onset and frequency of use of diagonal walking in the three genera.
Self‐awareness and the emergence of mind in primates
Authors: Gallup Gordon G.
Published: June 2005

To date humans, chimpanzees, and orangutans are the only species which have been shown capable of recognizing themselves in mirrors. Several species of macaques have now been provided with years of continuous exposure to mirrors, but they still persist in reacting to their reflection as if they were seeing other monkeys. Even gibbons (apes) and gorillas (great apes) seem incapable of learning that their behavior is the source of the behavior depicted in the image. Most primates, therefore, appear to lack a cognitive category for processing mirrored information about themselves. The implications of these data for traditional views of consciousness are considered briefly, and a recent attempt to develop an operant analog to self‐recognition is critically evaluated. Finally, an attempt is made to show that self‐awareness, consciousness, and mind are not mutually exclusive cognitive categories and that the emergence of self‐awareness may be equivalent to the emergence of mind. Several indices of “mind” which can be applied to nonhuman species are discussed in the context of an attempt to develop a comparative psychology of mind.
Disseminated strongyloidiasis in Erythrocebus patas
Authors: Harper J. S. , Rice J. M. , London W. T. , Sly D. L. , Middleton C.
Published: June 2005

Five fatal cases of disseminated strongyloidiasis were identified in Erythrocebus patas caged singly or in groups of two to four in an indoor research facility. This is the first report of fatal hyperinfective strongyloides infection in a species other than great apes and man. Severe pulmonary hemorrhage, duodenitis, and proximal colitis with microscopically demonstrable larvae in affected tissues were the key necropsy findings. E. patas is an available, suitable model for the study of disseminated strongyloidiasis.
Responsiveness of adult squirrel monkeys (Saimiri sciureus) to mother‐infant separation
Authors: Vogt Jerry L. , Siperstein Laurie , Levine Seymour
Published: June 2005

This study tested the responsiveness of adult male squirrel monkeys living with mother‐infant dyads to various conditions of mother‐infant separation. During each of the five weekly experimental 30‐minute sessions, as well as during undisturbed basal conditions, the behavioral and hormonal responses of five adult males were assessed. The results indicated that only one experimental condition—that involving the actual manipulation of the separated infant during the test session—produced behavioral and adrenocorticoid changes. During this condition the males exhibited increased movement, increased social activity scores, and elevations in plasma cortisol. These data indicate that squirrel adult male squirrel monkeys respond to mother‐infant separation when this manipulation involves threat to the infant, as has been noted for other primate species.
Development comparisons of grimace and play mouth in infant pigtail macaques (Macaca nemestrina)
Authors: Kirkevold Barbara C. , Lockard Joan S. , Heestand Jean E.
Published: June 2005

Five laboratory‐born infant pigtail macaques (Macaca nemestrina) were studied during playroom interactions. Each infant was videotaped for a 5‐minute period weekly for 5 months. The animals were scored on the frequency of the mouth display observed. Both play‐type (round mouth corners, ie, relaxed open‐mouth display) and fear‐type (sharp mouth corners, ie, silent bared‐teeth display) facial expressions were present at the onset of obsevations. Play mouths appeared with greater frequency than fear mouths throughout the study. The frequency of round‐cornered mouths (play and gnaw) vs sharpcornered mouths (bite and grimace) was significantly different both across monkeys and across weeks. There appeared to be a bimodal distribution of round and sharp mouths, with infants using the different mouth types in a nonsocial context at earlier ages and in a social context as they matured. The data are consonant with a phylogentically separate origin of the fear grimace and playface in old world anthropoids including humans.
Gestation length red howler monkeys
Authors: Crockett Carolyn M. , Sekulic Ranka
Published: June 2005

Gestations determined for Venezuelan Alouatta seniculus seniculus are within the range of those reported for Costa Rican Alouatta palliata Gray. Earlier reports of considerably shorter gestations for this genus appear to be inacurate.
Use of a radioreceptorassay (RRA) for human luteinizing hormone/chorionic gonadotropin (hLH/CG) for detection of early pregnancy and estimation of time of ovulation in macaques
Authors: Booher Carolynn B. , Prahalada Srinivasa , Hendrickx Andrew G.
Published: June 2005

A radioreceptorassay (RRA) for macaque luteinizing hormone (LH)/chorionic gonadotropin (CG) was adapted from the clinical RRA for human LH/CG, Biocept‐G™, for the purposes of detection of pregnancy prior to day 20 of gestation and for estimation of the time of ovulation in macaques. The 90‐min assay procedure was simple, accurate, and reliable. Seventy‐five rhesus monkeys (Macaca mulatta) and 20 crab‐eating monkeys (Macaca fascicularis) were tested for the presence of CG in the serum on estimated days 17–20 of pregnancy. Of a total of 160 tests, four false negative and 0 false positive tests were obtained, for an accuracy of 97.5%. The preovulatory LH peak was detected in 19 rhesus monkeys by semiquantitative RRA of LH/CG. Ovulation was confirmed in these 19 animals by the presence of a fresh corpus luteum at laparotomy 2–10 days after ovulation, collection of an embryo, pregnancy, or subsequent cycle history. The short, simple assay procedure and the low inter‐and intraassay coefficients of variation (7.3 and 3.7%, respectively) allow use of this assay in an economical, predictive, as well as retrospective, capacity for estimation of the time of ovulation in rhesus monkeys. The sensitivity, reliability, species nonspecificity, simplicity, and rapidity of performance of this RRA for LH/CG are features which add up to a useful new management tool for breeding macaques for research purposes.
Banding patterns of the chromosomes of Presbytis cristatus pyrrhus and P. obscurus
Authors: Ponsà M. , De Boer L. E. M. , Egozcue J.
Published: June 2005

The G‐ and Q‐bands and the location of the nucleolar organizer regions (NOR) in the chromosomes of Presbytis obscurus and the Q‐ and C‐bands of P. cristatus pyrrhus are described. Their chromosomes are compared to those of Macaca mulatta and to other Cercopithecidae and Hylobatidae. The origin of the two different banding patterns of pair no. 1 in our specimen of P. cristatus pyrrhus is discussed.
Personality traits of adolescent pig‐tailed monkeys (Macaca nemestrina): An analysis of social rank and early separation experience
Authors: Caine Nancy G. , Earle Huberta , Reite Martin
Published: June 2005

Personality ratings of ten adolescent pig‐tailed macaques (Macaca nemestrina) were carried out by three experienced observers who used a simple three‐point rating system. A modification of Stevenson‐Hinde & Zunz's [1978] procedure, the agreement between raters on each of 21 traits was evaluated. When correlated with social rank, it was shown that dominant animals were rated as being, for example, confident, effective, and opportunistic. Subordinant monkeys were rated as insecure and dependent. Rank correlated negatively, however, with observers' impressions of popularity. Subjects who had undergone a brief maternal separation were rated as less sociable than their nonseparated counterparts. Furthermore, rank‐related traits corresponded well with the three personality components that were derived by Stevenson‐Hind & Zunz [1978]; this suggested that clusters of traits reliably accompanied and/or contributed to the attainment of social rank.
Brief report: Population dynamics of free‐ranging rhesus monkeys in different ecological conditions in India
Authors: Seth P. K. , Seth S.
Published: June 2005

Data are presented on group size, composition, and reproductive rates of nine free‐ranging rhesus monkey groups inhabiting different habitats in India, based on 7,300 observation hours spread over 1975–1980. Analysis suggests that groups increased in size irrespective of the habitat occupied.
Psycholinguistic analyses of alarm calls of Japanese monkeys (Macaca fuscata fuscata)
Authors: Masataka Nobuo
Published: June 2005

Alarm and estrous calls emitted by Japanese macaques were recorded and analyzed in the Arashiyama West and East groups. Their responses to natural calls as well as to synthesized versions varying in the acoustic parameters that defined the vocalizations were studied. The response patterns shown by Arashiyama West group members, which were subject to a distinct change with only a slight difference of a single parameter, appeared to reflect strict underlying perceptual boundaries. This was analogous to the categorical perception that humans show with speech sounds. In contrast, continuous perception was exhibited by Arashiyama East group individuals. When several sounds were played back in combination to the former group, following stimuli were recognized by quite different cues from those by which the first sound was perceived. The groups' differences in vocal perception are discussed in terms of the ecological differences of the environments they inhabit.
The effects of dominance on mating behavior and paternity in a captive troop of rhesus monkeys (Macaca mulatta)
Authors: Curie‐Cohen Martin , Yoshihara Deborah , Luttrell Lesleigh , Benforado Kathy , MacCluer Jean W. , Stone William H.
Published: June 2005

The effects of social dominance on male mating behavior and paternity in a troop of rhesus monkeys (macaca mulatta) were examined. A wild‐caught troop of monkeys, captured in India in 1972, has been monitored in captivity for eight years. Some animals have been culled from this troop, but no new animals have been added except through births. The social structure of the troop has remained fairly stable over the eight years, although the number of adult males at any given time has ranged from four to ten. We blood typed 77 offspring born between 1973 and 1980 that survived to two months of age and determined paternity for 48 of them. During the eight‐year period, the dominant male sired only 13% to 32% of the offspring, even though he participated in 67% of the observed copulations. In contrast, the second ranking male sired 30% to 48% of the offspring, but participated in only 14% of the observed matings. The frequency and duration of copulation in any one year appeared to reflect a male's rank in the dominance hierarchy. However, in all but one year of our study, the largest number of offspring were sired, not by the dominant male, but by young males who were second or third in rank. Nevertheless, the dominant male may have a selective advantage because he sires a large number of offspring early in life, and continues to produce offspring over many years. This study demonstrates that observed copulations are imprecise indicators of paternity, and that paternity in any one breeding season is a poor indicator of the genetic structure of a population.
Brief report: Chimpanzees, tools, and termites: New record from Gabon
Authors: McGrew W. C. , Rogers M. E.
Published: June 2005

Wild chimpanzees (Pan troglodytes) in northeastern Gabon use tools made of vegetation to obtain termites (Macrotermes? nobilis) for food. They mostly use probes in termite fishing, as recorded elsewhere in eastern and far western Africa. This is the first record of termite fishing by the central west African race of chimpanzees. There are signs that they also use stouter tools, perhaps to perforate the mounds of the termites. These new findings further complicate the status of material culture in this species of ape in nature.
Development of a congenitally malformed Japanese monkey in a free‐ranging group during the first four years of life
Authors: Nakamichi Masayuki , Fujii Hisanori , Koyama Takamasa
Published: June 2005

A malformed male Japanese monkey completely lacking both hands was observed in a free‐ranging situation to four years of age. He developed a locomotor pattern appropriate to his deformity, namely, bipedal walking on hind legs. He maintained a stronger bond with his mother than did normal same‐aged male monkeys and retained the same high dominance ranking order as his mother. He did not show peripheralization as did normal juvenile monkeys. No social disadvantages based on his physical deficiencies were observed at least until the end of his fourth year of life.
Brief report: Outbreak of severe aggression in captive Macaca mulatta
Authors: Samuels Amy , Henrickson Roy V.
Published: June 2005

An outbreak of severe aggression occurred among females in a rhesus macaque breeding group at the California Primate Research Center four years after the group was established. During the breeding season in which this occurred, the incidence of injured females in other breeding groups at the Primate Center was significantly higher than in the previous year. This breeding season was the first in which a large number of females reached sexual maturity. The group in which the most severe aggression occurred contained the largest number and proportion of maturing females. Evidence suggests that the simultaneous maturation of a large cohort of adolescent females may be associated with increased levels of aggression, and that this aggression may be intensified by certain aspects of captivity.
Growth curves, dental emergence norms, and supplementary morphological observations in known‐age captive orangutans
Authors: Fooden Jack , Izor Robert J.
Published: June 2005

Postnatal development in known‐age captive orangutans was studied by collating new data from seven orangutans at Chicago Zoological Park, Brookfield, Illinois, with published and unpublished data from 76 additional captive orangutans. Norms were tabulated for deciduous and permanent dental emergence. Growth curves for weight and linear dimensions in females and males were compared in captive‐reared and wild‐reared subjects. Hand‐reared and mother‐nursed captives were compared with respect to dental emergence and weight increase. Differential relative growth of extremity segments was investigated. Pedigree data are presented relative to genetics of hallucal nail absence. Males of various ages were compared with respect to testis size and location and cheek‐pad development.
Brief report: Chromosomal analysis of perinatal death in Macaca mulatta and Macaca radiata
Authors: Small Meredith F. , Smith David Glenn
Published: June 2005

Peripheral blood samples from 53 macaque perinatal deaths at the California Primate Research Center (CPRC) were cultured to produce chromosomes for analysis. Karyotypes were constructed for 26 successful cultures and revealed no apparent chromosomal anomalies. A genetic screening program at primate breeding facilities is important for estimating the frequency of chromosomal anomalies in macaques and for understanding the contribution of chromosomal anomalies to reproductive loss and congenital malformations in macaques.