bluuebunny/crossref_metadata_2025 huggingface dataset:
Molecular cytogenetic and clinical studies of 42 patients with marker chromosomes
Authors: Callen D. F. , Eyre H. , Yip M‐Y. , Freemantle J. , Haan E. A.
Published: June 2005

The molecular cytogenetic characterization and clinical details of 20 patients with marker chromosomes are presented. These 20 patients, together with another 22 patients previously published, represent a cohort in which the chromosomal origin of the marker chromosomes was successfully determined in all but one case. Examination of the pooled data suggests that the satellited markers derived from chromosomes 14, 15 (when metacentric or submetacentric), those whose origin is either 13 or 21, and those small ring autosomal markers derived from both alphoid and satellite II or III pericentric hetero‐chromatin of chromosomes 1, 9, 15, and 16 are all associated with a low risk of phenotypic abnormality. The markers identified as i(18p), ring chromosomes derived from various autosomes, and satellited markers derived from chromosome 22 are associated with a high risk of phenotypic abnormality. The phenotype of patients with acrocentric markers derived from chromosome 15 was equivocal, perhaps as a result of imprinting. Additional data are required to confirm these trends. The mild mental retardation and abnormal face of a patient with a small ring chromosome derived from chromosome 4 are described. Identification of patients with small rings originating from particular chromosomes may allow the recognition of new syndromes. © 1992 Wiley‐Liss, Inc.
Two patients with chromosome 6q terminal deletions with breakpoints at q24.3 and q25.3
Authors: Meng Jianguo , Fujita Hiroko , Nagahara Noboru , Kashiwai Akira , Yoshioka Yasushi , Funato Masahisa
Published: June 2005

We report on 2 patients with de novo terminal deletion of 6q. The first was a 4‐month‐old boy whose karyotype was 46, XY, del(6)(q24.3); the second a 2‐year‐old girl whose karyotype was 46, XX, del(6)(q25.3). The main anomalies in both patients included mental retardation, minor craniofacial and cerebral anomalies, and cardiac defects. The characteristic manifestations were imperforate anus in the first patient, and retinitis proliferans and a triatrial heart in the other. Comparison of clinical findings of our 2 patients with those of 18 previously reported patients with similar phenotypes suggests that terminal deletion of the 6q23 or 6q25 band is critical in producing the main anomalies of del(6q) syndrome. © 1992 Wiley‐Liss, Inc.
Terminal deletion of chromosome 4p (4p16.3) shows a breakpoint between loci linked to Huntington disease
Authors: Ikonen Elina , Salo Armi , Somer Mirja , Somer Hannu , Pääkkönen Leena , Peltonen Leena
Published: June 2005

A 15‐year‐old boy with a terminal deletion of the short arm of chromosome 4 is described. The patient has a mild clinical phenotype that is incompatible with Wolf‐Hirschhorn syndrome. Careful neurological examination including CT scan did not show any signs of Huntington disease. The chromosomal breakpoint was analyzed by means of polymorphic DNA probes localized close to the tentative Huntington (HD) locus. The breakage has occurred between D4S43 and D4S90 loci and thus deletes part of the chromosomal candidate regions for the HD locus. © 1992 Wiley‐Liss, Inc.
Platelet dysfunction in a patient with the Opitz (BBBG) syndrome
Authors: Kapoor Rohit , Rodgers George M.
Published: June 2005

An 11‐year‐old girl with Opitz (BBBG) syndrome presented with a bleeding disorder. Studies showed an immune‐mediated qualitative platelet dysfunction in the absence of thrombocytopenia. This is the first report of hemostatic dysfunction in a patient with the Opitz (BBBG) syndrome. This report considers the possible relationship of the platelet dysfunction to the Opitz (BBBG) syndrome and its treatment. © 1992 Wiley‐Liss, Inc.
Chondrodysplasia punctata: A boy with X‐linked recessive chondrodysplasia punctata due to an inherited X‐Y translocation with a current classification of these disorders
Authors: Wulfsberg Eric A. , Curtis Jerri , Jayne Carol H.
Published: June 2005

Chondrodysplasia punctata (CDP) is a heterogeneous group of rare bone dysplasias characterized by punctate calcification of cartilage. The punctate calcifications are nonspecific and have been seen in a wide variety of disorders including the Zellweger syndrome, warfarin, dilantin, alcohol and rubella embryopathies, vitamin‐K‐epoxide‐reductase deficiency, chromosome trisomies 18 and 21, the Smith‐Lemli‐Opitz syndrome, prenatal infectious chondritis, hypothyroidism, and other rare disorders. We report on a boy with short stature, developmental delay, nasal hypoplasia, telebrachydactyly, hypoplastic genitalia, CDP, ichthyosis, hypoplastic genitalia, and a 46‐X, +der(X),t(X;Y)(p22.31;q11.21), Y karyotype. Genomic DNA probe analysis was interpreted as showing that the translocation breakpoint was within the X‐linked Kallmann syndrome gene. We review a current classification of these disorders that includes 3 well‐defined single gene disorders. These include an autosomal recessive rhizomelic type with early lethality, an X‐linked dominant type with presumed male lethality, and an X‐linked recessive type that has only been described as part of a contiguous gene deletion syndrome. © 1992 Wiley‐Liss, Inc.
New mental retardation syndrome with hearing impairment, distinct facial appearance, and skeletal anomalies
Authors: Finucane Brenda , Kurtz Michael B. , Scott Charles I.
Published: June 2005

We present 2 unrelated children with a distinct pattern of anomalies, including mental retardation, hearing impairment, unusual facial appearance, and skeletal defects. Both children have severe behavior disturbance and hyperactivity. The characteristic facial findings include a broad mouth, broad nasal bridge, mildly anteverted nares with a fleshy nasal tip, and deep nasolabial folds. Skeletal findings include mild to moderate short stature, dysharmonic maturation of epiphyseal ossification centers in the hands, and mild scoliosis. © 1992 Wiley‐Liss, Inc.
New distinct lethal osteosclerotic bone dysplasia (Raine syndrome)
Authors: Kan A. E. , Kozlowski K.
Published: June 2005

We report a third case of a rare neonatal lethal sclerotic bone disorder with distinct craniofacial anomalies and striking radiographic and hitherto undescribed histopathologic features. The remarkable similarity between our patient and 2 recently reported infants suggests strongly a distinct entity. We propose the term Raine syndrome as a convenient identification of this disorder. © 1992 Wiley‐Liss, Inc.
Cytogenetic, biochemical, and molecular analyses of a 22q13 deletion
Authors: Phelan Mary C. , Thomas Gordon R. , Saul Robert A. , Rogers R. Curtis , Taylor Harold A. , Wenger David A. , McDermid Heather E.
Published: June 2005

We report on a 3‐year‐old boy with a terminal deletion of 22q. The activity of alpha‐N‐acetylgalactosaminidase was normal while arylsulfatase A activity was reduced. Molecular analysis demonstrated the lack of paternal alleles of D22S45 and D22S55. © 1992 Wiley‐Liss, Inc.
CNS midline anomalies in the opitz G/BBB syndrome: Report on 12 Brazilian patients
Authors: Guion‐Almeida M. L. , Richieri‐Costa A.
Published: June 2005

We report on 12 Brazilian boys with the Opitz G/BBB syndrome associated with CNS midline anomalies, namely, Dandy‐Walker anomaly (two patients), enlarged cisterna magna (four patients), enlarged 4th ventricle (four patients), and callosal a/hypoplasia (two patients). These signs clearly show the involvement of the CNS midline in the Opitz G/BBB syndrome. © 1992 Wiley‐Liss, Inc.
Parental origin determination in thirty de novo Robertsonian translocations
Authors: Shaffer Lisa G. , Jackson‐Cook Colleen K. , Stasiowski Beth A. , Spence J. Edward , Brown Judith A.
Published: June 2005

Cytogenetic heteromorphisms and restriction fragment length polymorphisms were used to assign the parental origins of 30 de novo non‐homologous Robertsonian translocations. The balanced and unbalanced translocations studied included 20 rob(14q21q) four rob(13q14q) four rob(15q21q) one rob(13q15q), and one rob(13q21q). Significantly more maternally (26/30) than paternally (4/30) derived de novo translocations were noted and all rob(14q21q) ascertained through unbalanced probands (20/20) were maternal in origin. Interestingly, 12/13 probands who were trisomic and informative for proximal chromosome 21q loci were homozygous for the markers tested. Segregation (2:1) of the Robertsonian translocation into one daughter cell in meiosis I and subsequent failure of the chromosome 21 chromatids to separate in meiosis II may account for our observation of homozygosity for proximal chromosome 21 loci in the majority of de novo rearrangements tested. © 1992 Wiley‐Liss, Inc.
Ullrich‐Turner syndrome with a small ring X chromosome and presence of mental retardation
Authors: Van Dyke Daniel L. , Wiktor Anne , Paliner Catherine G. , Miller Dorothy A. , Witt Michal , Babu V. Ramesh , Worsham Maria J. , Roberson Jacquelyn R. , Weiss Lester
Published: June 2005

Since some patients with Ullrich‐Turner syndrome (UTS) have mental retardation, we reviewed our experience to look for a high‐risk subgroup. Among 190 UTS and gonadal dysgenesis patients with X chromosome abnormalities, 12 had mental retardation. All of the six (100%) with a small ring X were educable (EMI) or trainable mentally impaired (TMI) with more severe delay than expected in UTS. Among the 184 with other X abnormalities, only 6 had similar delays (2 from postnatal catastrophes), for a frequency of 3.3% mental retardation among those without a small ring X; only 2.2% of these had unexplained mental retardation. Polymerase chain reaction studies showed no Y‐derived material in the 2 patients who were evaluated, and in situ hybridization confirmed X origin of the ring in the 6 subjects who were evaluated.

We describe the phenotype of the 6 individuals with a small ring X, and an additional 2 patients with a small ring X who were identified outside the survey. The subjects with a small ring X comprised a clinically distinct subgroup which had EMI/TMI and shorter stature than expected in UTS. Seizures and a head circumference <10th centile were observed in half of the patients with a small ring X, and strabismus, epicanthus, and single palmar creases were present in more than half. A “triangular” face in childhood, pigmentary dysplasia, sacral dimple, and heart defects were also common. Neck webbing appeared to be less frequent than in 45, X. We hypothesize that the high risk of mental retardation in this form of the UTS results from lack of lyonization of the ring X due to loss of the X inactivation center. Excluding those with a small ring X, mental retardation is not significantly increased in patients with UTS. © 1992 Wiley‐Liss, Inc.
Five years experience of predictive testing for myotonic dystrophy using linked DNA markers
Authors: Reardon W. , Floyd J. L. , Myring J. , Lazarou L. P. , Meredith A. L. , Harper P. S.
Published: June 2005

We report on a 5 year experience in providing presymptomatic and prenatal molecular diagnostic services for myotonic dystrophy, using closely linked markers, representing 235 completed results in 161 families. Only 10 analyses (4.3%) proved uninformative, but a further 5 requests (1.9%) could not be reported because of uncertainty in clinical status. Seven of 81 (8.6%) patients considered to be at low risk on clinical grounds were found to be at high risk of carrying the gene. The importance of interpreting molecular results in conjunction with clinical findings is emphasised by the illustrative examples provided. Careful clinical examination and appropriate investigation remain a cornerstone of diagnosis in myotonic dystrophy and are crucial if errors in assigning genotype status by molecular means are to be minimised. © 1992 Wiley‐Liss, Inc.
Can maternal risk factors influence the presence of major birth defects in infants with Down syndrome?
Authors: Khoury Muin J. , Erickson J. David
Published: June 2005

Although the manifestations of Down syndrome (DS) are well known, certain major birth defects such as duodenal atresia and endocardial cushion defects are present in some infants but not others, suggesting the possible role of other genetic or environmental factors interacting with the trisomy genotype. To explore the possible role of maternal factors in the presence of major defects among DS infants, we examined data from an epidemiologic study of DS conducted in metropolitan Atlanta. Of 219 DS infants born between 1968 and 1980, 50 had recorded cardiac defects, 9 had selected gastrointestinal atresias and 4 had oral clefts. We evaluated the association of these defects with several maternal factors including age, race, first trimester cigarette smoking, alcohol use, and fever. We found that different maternal factors were associated with several defects: (1) mother's race with cardiac defects (40% in blacks vs. 17% in whites, P < 0.01), (2) mother's age with oral clefts (6% for < 25 years, 1% for 25–34, and 0% for > 34, P< 0.05), and (3) maternal first trimester fever with gastrointestinal defects (15% in infants with history of fever and 3% in infants without a histroy of fever, P < 0.01). We also observed an inverse relationship between maternal alcohol use and the presence of ventricular septal defect. These findings suggest that maternal risk factors may influence the clinical manifestations of DS. In addition to searching for a genetic basis for the DS phenotype, we suggest that the role of environmental factors and maternal exposures be specifically explored in clarifying the genesis of various birth defects in Down syndrome. © 1992 Wiley‐Liss, Inc.
Upper and lower airway compromise in the apert syndrome
Authors: Cohen M. Michael , Kreiborg Sven
Published: June 2005

Both upper and lower airway compromise may be responsible for early death in some patients with the Apert syndrome. We report on two and review six cases with complete or partial cartilage sleeve abnormalities of the trachea. Possible mechanisms include tracheal stenosis and/or lack of tracheal distensibility which may result in respiratory inefficiency, inability to clear secretions, and/or increased liability to surface injury from tracheal suctioning. Upper airway compromise, consisting of obstructive sleep apnea and cor pulmonale, may result from reduced nasopharyngeal and oropharyngeal dimensions in the Apert craniofacial configuration. © 1992 Wiley‐Liss, Inc.
Deletion of the hunter gene and both DXS466 and DXS304 in a patient with mucopolysaccharidosis type II
Authors: Beck Michael , Steglich Cordula , Zabel Bernhard , Dahl Niklas , Schwinger Eberhard , Hopwood John J. , Gal Andreas
Published: June 2005

Hunter syndrome is an X‐linked mucopoly‐saccharidosis due to deficiency of the lysosomal enzyme iduronate‐2‐sulfatase (IDS). A cDNA clone containing the entire coding region of the human IDS gene, mapped in Xq28, has been used as molecular probe to study a patient with Hunter syndrome. A submicroscopic deletion has been detected that spans the IDS gene as well as DXS466 and DXS304, 2 loci mapped probably not more than 900 kb from the IDS locus. A detailed clinical description of the patient is provided and his phenotype is compared to that of other patients with IDS deletion described recently. By following the segregation of a restriction fragment length polymorphism at the IDS locus in the patient's family, our data suggest that the deletion occurred in the germ cells of the patient's grandfather. © 1992 Wiley‐Liss, Inc.
Genomic imprinting and uniparental disomy in Angelman and Prader‐Willi syndromes: A review
Authors: Nicholls Robert D.
Published: June 2005

Although Angelman (AS) and Prader‐Willi (PWS) syndromes are human genetic disorders with distinctly different developmental and neurobehavioural phenotypes, they both have abnormalities in inheritance of chromosome 15q11–q13. Whether AS or PWS arises depends on the parental origin of a deletion or uniparental disomy (the inheritance of 2 copies of a genetic locus from only one parent) for 15q11–q13. Normal development requires a genetic contribution for this genetic region from both a male and female parent. The dependence on parental origin implies that genes in human 15q11–q13 have distinct functions depending upon epigenetic, parent‐of‐origin differences, known as genomic imprinting. Here, I review the role of uniparental disomy and genomic imprinting in the pathogenesis of AS and PWS, and briefly discuss phenotype‐genotype correlations using candidate genes and mouse models, in particular for hypopigmentation. © 1993 Wiley‐Liss, Inc.
Hypopigmentation in Angelman syndrome
Authors: King Richard A. , Wiesner Georgia L. , Townsend Dewayne , White James G.
Published: June 2005

Chromosome region 15q is thought to contain one or more genes that are important for melanin pigment synthesis in the hair, skin, and eyes. Hypopigmentation has been identified in the Prader‐Willi (PWS) and Angelman (AS) syndromes. We have examined 6 individuals with AS to further characterize the pigment pattern in this condition. The age of the 5 girls and one boy ranged from 2.4 to 7.0 years. None has obvious albinism. Hair color ranged from light blond to brown. Skin was type I in 3 and type II in 3. Eye changes included nystagmus in 2, strabismus in 4, and reduced retinal pigment in 5. The mean hairbulb tyrosinase activity was 0.37 ± 0.44 pmol/hb/120 min for the individuals with AS, with a range of 0.00 to 1.13 (normal brown control 1.49 ± 0.79, normal blond control 1.50 ± 0.85). Electron microscopic examination of hairbulb melanocytes showed normal melansome and melanocyte architecture and number, but reduced melanin formation, with many stage II and III premelanosomes but few stage IV fully melanized melanosomes. Hypopigmentation characterized by light skin, reduced retinal pigment, low hairbulb tyrosinase activity, and incomplete melanization of melanosomes is part of the phenotype of AS, and is similar to that found in PWS. © 1993 Wiley‐Liss, Inc.
46, XX, 15p+ documented as dup (17p) by fluorescence in situ hybridization
Authors: Spinner Nancy B. , Biegel Jaclyn A. , Sovinsky Lorraine , McDonald‐McGinn Donna , Rehberg Kim , Parmiter Annette H. , Zackai Elaine H.
Published: June 2005

We report on a patient with a complex heart defect, short webbed neck, multiple other minor features, and a 46,XX,15p+ de novo karyotype. The enlarged short arm of the chromosome 15 was Distamycin‐DAPI and C‐band negative. Fluorescence in situ hybridization (FISH) using an alpha satellite probe from chromosome 15 demonstrated hybridization only to the normal 15. In situ hybridization using a set of probes that bind to the short arm (17p13) and centromere of chromosome 17 demonstrated that the extra material on chromosome 15, including the centromere, was derived from chromosome 17. Therefore, this patient has a duplication of the centromere and short arm of chromosome 17. Clinical manifestations in this patient were consistent with those in previously described patients with dup (17p). © 1993 Wiley‐Liss, Inc.
Molecular characterization of a complex translocation in a newborn infant
Authors: Verma R. S. , Conte R. A. , Macera M. J. , Khan A. S. S. I. , Hebi S. , Masoud A. A. , Zaman A. Al , Bader M. Al
Published: June 2005

A newborn infant was referred because of low‐set ears, mild downward slant of the palpebral fissues, micrognathia with higharched palate, a flat midface, small mouth, and thin upper lip with cupid bow configuration. To some extent her cry resembled that associated with cri du chat syndrome.

Cytogenetic findings with G‐ and Q‐banding alone failed to characterize precisely the complex translocations. By the chromosome in situ suppression (CISS) hybridization technique using whole chromosome specific probes, a complex 4 breakpoint rearrangement involving both arms of a single chromosome 1 with the long arms of chromosome 5 and 11 was disclosed, i.e., 46,XX, der(1),t(1;5) t(1;11) (5qter→5q31::1p31.3→1q44::11q23→11qter;5pter→5q31::1p31.3→1pter;11pter→11q23::1q44→1qter). Gene deregulation and position effect may explain the multiple anomalies in individuals with apparently balanced translocations may shed some light towards unveiling the clinical consequences associated with aberrations which are presumably balanced. © 1993 Wiley‐Liss, Inc.
Presymptomatic DNA testing for Huntington disease: Identifying the need for psychological intervention
Authors: Tibben Aad , Duivenvoorden Hugo J. , Vegter‐van der Vlis Maria , Niermeijer Martinus F. , Frets Petra G. , van de Kamp Jacques J. P. , Roos Raymund A. C. , Rooijmans Harry G. M. , Verhage Frans
Published: June 2005

In the Dutch presymptomatic DNA‐testing program for Huntington disease (HD), 29 individuals with increased risk and 44 with decreased risk were followed‐up 6 months after test results. A prognostic model was built aimed at identifying individuals at risk for psychological maladjustment, as measured by the Impact of Event Scale, the Beck Hopelessness Scale, the General Health Questionnaire, and the Social Support Questionnaire. Results: 1) The more that applicants suffered from intrusive feelings about HD and tried to avoid HD‐related situations, prior to the test, the greater the chance that they will experience this 6 months after the test if they proved to be at increased risk; 2) the more that both individuals with increased risk and those with decreased risk who suffered from the threat of having HD tried to avoid HD‐related situations prior to the test and the less satisfied they were with available support, the greater the probability that they will show avoidance behavior after the test; 3) the more pessimistic that individuals with increased risk as well as those with decreased risk were about their future prior to the test, the more they avoided HD‐related situations and the more dissatisfied they were about their available support (pretest), the greater the probability that they will become depressive and suicidal. Psychological adjustment was also studied as a function of a) intrusion/denialavoidance pattern over time and b) healthy mental functioning/future expectancies. Most individuals with increased risk (86%) seem to cope well thus far, although this was based largely on strong psychological defenses and dependent on satisfactory relationships. Five individuals with increased risk (17%) had either health complaints and/or extreme pessimistic expectancies. They were not able to face the consequences of the test result and showed an increase of denial‐avoidance behavior thereafter.

Seven out of 9 individuals with decreased risk, identified as possible psychopathological cases with pessimistic expectancies, had less intrusive feelings than prior to the test. This group could later develop severe problems with detachment from their previous life style and also with adapting to their new genetic status.

We conclude that DNA‐testing has shown benefits for most tested individuals. However, a considerable number are at risk for maladjustment and should be offered additional help. Further studies as to whether the strong defenses in individuals with increased risk safeguard adequate adjustment in the long term should be undertaken. © 1993 Wiley‐Liss, Inc.
Pseudoautosomal region in schizophrenia: Sex concordance of the affected sibpairs and the association study with DNA markers
Authors: Ishida Toru , Yoneda Hiroshi , Sakai Toshiaki , Nonomura Yasuhiro , Inayama Yasuhiro , Kono Yoshihiro , Kobayashi Shin‐Ichi
Published: June 2005

To test a hypothesis that the pseudoautosomal region of the sex chromosomes contributes to the pathogenesis of schizophrenia, we carried out the following studies: First, the sex concordant rates of 77 schizophrenic sibpairs were examined. Secondly, 46 schizophrenic patients and 150 healthy controls were tested for association with DXYS17, DXYS20, DXYS28, and MIC2 in the pseudoautosomal region.

Sex concordant rates in sibpairs with schizophrenia were not higher than would be expected by chance. No significant associations were found between four DNA markers we tested and schizophrenia. These results did not support the hypothesis; however, linkage disequilibrium can only be detected if the marker and trait loci are located close enough. Linkage analyses in multiplex families need to be carried out before ruling out this region as a location for a gene for schizophrenia. © 1993 Wiley‐Liss, Inc.
Neuropsychological impairment in 42 adolescents with sex chromosome abnormalities
Authors: Bender Bruce G. , Linden Mary G. , Robinson Arthur
Published: June 2005

Sixty‐seven adolescents participated in this protocol, including 42 with sex chromosome abnormalities and 25 controls. Results from a battery of neuropsychological tests indicated karyotype specific patterns of neuropsychological impairment: (1) 47,XXY boys had unimpaired intelligence but reduced abilities in verbal fluency and reading; (2) 47,XXX girls experienced reduced general intelligence accompanied by impaired scores on individual tests of attention, concept formation, spatial thinking, verbal fluency, and academic skills, while retention of memorized information was a relative strength; (3) among the 45,X girls average intelligence level was also reduced along with scores on tests of attention, concept formation, verbal fluency, spatial thinking, and academic skills, and an atypical pattern of hand dominance was identified; (4) test scores in the group of mosaic females did not differ from those of controls. Test scores and patterns of personal adaptation were quite variable in all groups; while eight nonmosaic propositi required intensive special education assistance in their public schooling, eight others have attended college.© 1993 Wiley‐Liss, Inc.
Desbuquois syndrome: Clinical, radiographic, and morphologic characterization
Authors: Shohat Mordechai , Lachman Ralph , Gruber Helen E. , Hsia Y. Edward , Golbus Mitchell S. , Witt David R. , Bodell Adria , Bryke Christine R. , Hogge W. Allen , Rimoin David L.
Published: June 2005

To further characterize the clinical, radiographic and chondro‐osseous morphologic changes in the Desbuquois syndrome, 7 patients from three sibships are described. They all had prenatal onset severe rhizomelic and mesomelic shortness with marked joint laxity and marked micrognathia. Radiographic changes were distinct, consisting of a supernumerary ossification center between the proximal phalanx of the index finger and the second metacarpal, and variable thumb changes. The femoral necks showed enlargement of the lesser trochanter with metaphyseal beaking, producing a characteristic “monkey wrench” (Swedish key) appearance. Growth plate cartilage showed dilated cisterns of rough endoplasmic reticulum in reserve zone chondrocytes. Three of the 7 cases were diagnosed prenatally by second trimester ultrasound and one case by fetoscopy. This syndrome exhibits significant phenotypic variability and must be differentiated from the Catel‐Manzke syndrome which exhibits similar radiographic changes in the hands. © 1994 Wiley‐Liss, Inc.
Gonadal agenesis in XX and XY sisters: Evidence for the involvement of an autosomal gene
Authors: Mendonça Berenice B. , Barbosa Ǎngela S. , Arnhold Ivo J. P. , McElreavey Ken , Fellous Marc , Moreira‐Filho Carlos A.
Published: June 2005

Two agonadic sisters, one with a 46,XY and the other with a 46,XX karyotype, both with normal female external genitalia and hypoplastic Müllerian derivatives, born to a consanguineous marriage, were studied from a clinical, endocrinological, histological, and genetic perspective. Using PCR amplification, Southern hybridization, and DGGE analysis, it was found that the XY patient had no mutations in the conserved sequence of the SRY gene, the putative testis‐determining gene in mammals, whereas her XX affected sister is SRY‐negative. To our knowledge, this is the first report of XY and XX sibs in familial gonadal agenesis without other somatic abnormalities. The involvement of an autosomal locus impeding gonadal development in both sexes is discussed. © 1994 Wiley‐Liss, Inc.
New dominant syndrome of pterygium colli, mental retardation, and digital anomalies
Authors: Khalifa M. M. , Graham G.
Published: June 2005

We describe a proband and his mother who appear to have a new dominant syndrome of mental retardation: pterygium colli, unusual features, and digital anomalies. The craniofacial abnormalities include brachycephaly, epicanthus inversus, angulated eyebrows, upward slanting of the palpebral fissures, ptosis, hypertelorism, and prominent low set, posteriorly rotated ears. The digits are remarkable for proximally displaced small thumbs, widened interphalangeal joints, and broad terminal phalanges. © 1994 Wiley‐Liss, Inc.
Autosomal recessive congenital intrauterine infection‐like syndrome of microcephaly, intracranial calcification, and CNS disease
Authors: Reardon W. , Hockey A. , Silberstein P. , Kendall B. , Farag T. I. , Swash M. , Stevenson R. , Baraitser M.
Published: June 2005

We present data on 10 patients from 5 families with a condition of microcephaly, intracranial calcification, and a clinical course resembling congenital TORCH infection. Repeatedly, negative TORCH investigations are a prerequisite for the identification of this disorder and the value of disturbed liver function and thrombocytopenia as aids to diagnosis is emphasised. Several similar families with recurrence of the disease in sibships are identified in the literature and the genetic implications of our observations are considered. © 1994 Wiley‐Liss, Inc.
Carrier risk calculations for recessive diseases when not all the mutant alleles are detectable
Authors: Curnow R. N.
Published: June 2005

The number of recessive diseases, such as cystic fibrosis, in which some but not all of the mutations causing the disease can be detected using genetic probes, is certain to increase. For counselling purposes, the probability that a consultand known not to have a detectable mutation is nevertheless a carrier, needs to be calculated with as much accuracy as possible. This paper describes a program, available from the author, written specifically to make these calculations. As an example, results are presented for cystic fibrosis, assuming an incidence of 1 in 2,400 and that 80% of the mutations, being ΔF508 mutations, are detectable. Numerical results are given when information may be available on the parents, one or two sibs and one or two children of the consultand. When test results are available on the children, the test status of the spouse of the consultand is relevant and may also be available. Risk calculations are also presented when an aunt (uncle) of the consultand has cystic fibrosis. Finally, disease and carrier risks are given for the child of first cousins, neither of whom has a detectable mutation. © 1994 Wiley‐Liss, Inc.
Comparison of frugivory by howling monkeys (Alouatta palliata) and bats (Artibeus jamaicensis) in the tropical rain forest of Los Tuxtlas, Mexico
Authors: Estrada Alejandro , Coates‐Estrada Rosamond , Vasquez‐Yanes Carlos , Orozco‐Segovia Alma
Published: June 2005

Information on the fruit diets of howling monkeys and fruit‐eating bats in the tropical rain forest of Los Tuxtlas, Mexico was collected for a year to compare the plant species used. Howling monkeys used 19 plant species whereas bats used 32 plant species as fruit sources. Eleven species were common in the diet of both mammals. A rank analysis at the plant species level showed that the fruit diets of Alouatta and Artibeus were very different. In contrast to bats, howling monkeys displayed a seasonal pattern in fruit consumption. Diet overlap between the two mammals was highest during the monkeys' fruit‐eating season. Measures of fruit production in eight trees (four species) indicated marked variations in fruit biomass produced and in length of fruiting from tree to tree and species to species. Peaks in fruit production were typical both at the species and the individual tree levels, demonstrating the very patchy nature of the fruit available to the monkeys and the bats.
“Conversations” among pygmy marmosets
Authors: Snowdon Charles T. , Cleveland Jayne
Published: June 2005

Pygmy marmosets (Cebuella pygmaea) use a variety of trill‐like vocalizations to maintain contact among group members throughout the day. Frequently, when one animal gives a trill, other animals will respond antiphonally. Among three pygmy marmosets in a captive group, there were clear patterns or sequences of calling among animals. All three animals would call in sequence more frequently than expected by chance, while the likelihood of an animal calling twice before each of the other animals called once was less than expected by chance. One particular ordering of three individuals calling in sequence was more common than the other ordering of three animals. Individual differences were found between the likelihood of initiating call sequences and the likelihood of calling later in a sequence. Pygmy marmosets appear to have a conversational rule system to govern their antiphonal calling.
Behavioral responses to species‐specific warning calls in infant squirrel monkeys reared in social isolation
Authors: Herzog Michael , Hopf Sigrid
Published: June 2005

Six infant squirrel monkeys were reared in social isolation. They responded differentially to playbacks of two species‐specific alarm calls. The reaction to the alarm peep, the warning call to bird predators, was a prompt flight to the mother surrogate and essentially resembled the respective behavior of mother‐reared infants. The responses to yapping, the alarm call to terrestrial predators, were less clear‐cut and habituated soon. However, when yapping was played back in connection with the presentation of a reference object, both subjects tested in this way clearly avoided the object and preferred contact with the mother surrogate while they thoroughly explored an object presented with a control tone. From this it can be concluded that the perception of both alarm calls is innate. In addition, the method of behavior‐contingent playback of vocalizations simulates the learning process by which the visual perception of terrestrial predators of the habitat is acquired.
Taxonomy of squirrel monkeys genus Saimiri (Cebidae, platyrrhini): A preliminary report with description of a hitherto unnamed form
Authors: Hershkovitz Philip
Published: June 2005

Two groups of squirrel monkeys, genus Saimiri, are distinguished by external characters. The first, or Roman type, contains Saimiri boliviensis of upper Amazonia south of the Rio Marañón‐Amazonas, with two subspecies of which S. boliviensis peruviensis is described as new. The second group, or Gothic type, contains three species: Saimiri sciureus with four subspecies distributed over much of tropical South America, Saimiri ustus of Brazil between the south bank Amazonian Rios Purús and Xingu, and S. oerstedi isolated on a Pacific coastal area straddling Costa Rica and Panamá. The geographic range of S. sciureus overlaps parts of those of S. ustus and S. boliviensis. Incomplete karyotypic data indicate that the diploid number of chromosomes for the genus is 44. Geographic variation is characterized by reduction from seven to six or five paired acrocentric autosomes through pericentric inversion with reciprocal increase in number of paired submetacentric or subtelocentric autosomes. Geographic distribution, behavior, sexual dimorphism including dichromatism, and hybridization are discussed. Ventral guide hairs for orientation of subprecocial newborn toward the maternal mammae are described. Distinguishing characters of species and subspecies are provided in a key. The taxons are listed with the taxonomy of each discussed, their geographic distribution plotted and mapped.
Segregation distortion and differential fitness at the albumin locus in rhesus monkeys (Macaca mulatta)
Authors: Smith David Glenn , Rolfs Becky
Published: June 2005

The observed patterns of segregation of two co‐dominant alleles at the macaque albumin locus in 400 rhesus monkey offspring were compared with those expected for five segregating mating phenotypes. Rates of reproductive loss and conception were also compared among females of each albumin phenotype. The common albumin allele in macaques, AlAmac, segregated more frequently than expected when the mother was heterozygous but less frequently than expected when she was homozygous for AlBmac. In both cases, the phenotype identical to that of the mother appeared to be favored. Mothers who were either homozygous for AlAmac or heterozygous were also found to experience higher conception rates than mothers homozygous for AlBmac. It is hypothesized that phenotypic differences in bilirubin binding, and in competitive binding by dietary constituents, by albumin influences both these results and the nonrandom distribution of AlBmac in Asian macaques.
Circulating steroids and the relationship between ovarian and placental secretion during early and mid pregnancy in the baboon
Authors: Hodges J. K. , Tarara R. , Wangula C.
Published: June 2005

Ovarian and placental steroid secretion was examined at intervals during early and mid‐pregnancy in the olive baboon, Papio anubis. Progesterone, androstenedione, testosterone, estrone, and estradiol‐17β were measured after celite chromatography in samples from peripheral circulation and from utero‐ovarian veins draining ovaries with and without corpora lutea at the following stages of pregnancy: days 8–9 (unconfirmed pregnant), 10–19, 34–40, 60–66, and 104–106 after ovulation. The pattern of hormone levels in peripheral and utero‐ovarian vein samples indicated the following: 1) The corpus luteum was the principal source of progesterone until at least day 19. Placental secretion was well advanced by days 34–40 and provided the major contribution to circulating progesterone levels by day 60.2) There was a significant elevation in peripheral concentrations of androstenedione and testosterone on days 10–19 and 34–40 of pregnancy; androgen levels in peripheral and utero‐ovarian vein samples declined to baseline values by day 60. 3) Estrogens were secreted by the corpus luteum on days 10–19 but not on days 34–40. Placental secretion of estradiol‐17β increased markedly after days 60–66, whereas little, if any, placental secretion of estrone was apparent at this time. These results provide circumstantial evidence that progesterone secretion by the corpus luteum of early pregnancy extends beyond the time when estrogen secretion has declined and that the timing of the luteo‐placental shift in the baboon is intermediate between that in rhesus monkeys and that in marmosets and humans. Increased secretion of androgens during the first 6 weeks of gestation may be useful in early pregnancy diagnosis in the baboon, although the physiological significance of this event is not clear.
The stumptail macaques of China
Authors: Fooden Jack , Guoqiang Quan , Zongren Wang , Yingxiang Wang
Published: June 2005

The stumptail macaque species Macaca thibetana and Macaca arctoides replace one another from north to south in subtropical and tropical China. These species differ in external and cranial characters. Neonatal pelage color is pale grayish‐brown in M. thibetana and whitish in M. arctoides. In adults, ventral pelage is whitish in M. thibetana and brown in M. arctoides. The forehead and cheeks are thickly furred in adult M. thibetana and bald in M. arctoides. Facial skin color typically is sexually dimorphic in M. thibetana—buffy in males and reddish in females—and monomorphic in M. arctoides—reddish in both sexes. Head and body length, weight, relative tail length, and relative ear length all tend to average greater in M. thibetana than in M. arctoides. Skull length, rostral‐postrostral ratio, and relative canine length in males average greater in M. thibetana. than in M. arctoides; relative zygomatic breadth and relative bimalar breadth average greater in M. arctoides than in M. thibetana. Reproductive anatomy in both sexes is strikingly divergent in these two species. Although these species are adapted to different climatic zones, many aspects of their natural history are generally similar, as far as is now known. One apparent behavioral difference is that M. thibetana usually sleeps in caves or rocky crevices, while M. arctoides usually sleeps in trees.
Differential detectability of primates between primary and selectively logged habitats and implications for population surveys
Authors: Johns Andrew D.
Published: June 2005

Much information has been published concerning the accurary of various techniques commonly used for censusing primates. The sources of bias may vary according to the technique used. Accuracy may depend on population density as well as on differential visibility and hence detectability between areas. This paper provides evidence that primates may alter their behavior between areas of primary and selectively logged habitat, which in turn could affect census results. Adoption of cryptic behavior, changes in behavioral profile, and reduction in calling rates reduce the detectability of certain species. Increases in the frequency of subgrouping or in group dispersion may introduce a danger of overestimation of other species, unless differences in the size of foraging units are taken into account.
Pulmonary immunoreactive calcitonin in the African green monkey (Cercopithecus aethiops): Anatomic distribution
Authors: Becker Kenneth L. , Snider Richard H. , Moore Charles F. , Silva Omega L.
Published: June 2005

The hormone calcitonin, which occurs predominantly within the C cells of the mammalian thyroid gland, is also found within the pulmonary endocrine cells of the epithelium of the tracheobronchial tree. A study was made of the distribution of immunoreactive calcitonin (iCT) in the African green monkey. Using two different region‐specific antisera, the total respiratory iCT comprised 2.5% and 5.8% of the total thyroid iCT. The mean concentration of iCT in the right lung exceeded that in the left, and the mean concentration of the right middle or right upper lobe exceeded that of all other lobes. Embryologically, the ultimobranchial bodies contribute their iCT‐producing C cell primordia to the thyroid gland near the level of the primitive laryngotracheal cleft and shortly after the early arborization of the bronchial tree. In monkeys and most other mammals, the right main stem bronchus is larger and develops earlier than the left. The data suggest an early migration of cells from the ultimobranchial bodies to the bronchi, eventually giving rise to the iCT‐containing pulmonary endocrine cells.
Luteinizing hormone‐releasing hormone in olfactory bulbs of primates
Authors: Witkin Joan W.
Published: June 2005

This immunohistochemical study of luteinizing hormone‐releasing hormone (LHRH) in the olfactory bulbs in primates was undertaken in order to see whether there was an LHRH innervation in these species similar to that found in rodents. One old world (Macaca fascicularis) and two new world (Saimiri sciureus and Aotus trivirgatus) monkeys were studied. Aotus trivirgatus was of particular interest as it is noctural and so presumably more dependent upon olfactory cues. Animals were perfused with fixative, olfactory bulbs removed and sectioned, and tissues reacted immunocytochemically using LR1 (Benoit) antiserum to LHRH. Some LHRH innervation was found in the olfactory bulbs of all three species, comprising a few LHRH neurons and many fibers that ramified within the bulbs. The accessory bulb (not present as a distinct entity in old world primates) had more LHRH innervation than did the main olfactory bulb. Aotus trivirgatus had the greatest representation of LHRH of the three species. The layer of the olfactory bulb with the greatest number of LHRH fibers was the external plexiform layer. This is also true in rodents. There is evidence that LHRH has a role in the mediation of olfactory cues in reproductive behavior in rodents. It is not known how LHRH functions within the olfactory system in primates. However, the fact that it is distributed similarly in the two groups suggests that it may serve a similar function.
Intergroup transfer and incest avoidance in semifree‐ranging barbary macaques (Macaca sylvanus) at Salem (FRG)
Authors: Paul Andreas , Kuester Jutta
Published: June 2005

During a long‐term study of social behavior of semifree‐ranging Barbary macaques, data on group transfer and sexual behavior were collected. A large population containing five groups living in a 14.5 ha outdoor enclosure was studied. Demographic data on the whole population are available for a period of six years. Data on sexual behavior of members of one large group were collected, by both focal animal and ad libitum techniques, for a period of two years. Matrilineal kinship relations of all except the oldest members of this intensively studied group were known. Males changed groups most frequently between the ages of three and five years i.e., the time at which sexual maturity was reached. While more than 30% of all males three years old and older changed groups during the study period, many males remained members of their natal group even after reaching adulthood. However, sexual interactions, especially matings between close matrilineal relatives, were found to be almost absent, suggesting that Barbary macaques are not highly inbred as formerly supposed.
A field study of Geoffroy's tamarin (Saguinus geoffroyi) in Panama
Authors: Skinner Carol
Published: June 2005

A 3‐month field study was conducted in Panama to determine presence and relative abundance of Saguinus geoffroyi, the Geoffroy's tamarin, and status of its habitat (see Acknowledgments for taxonomic note). This primate has a wide geographical distribution in eastern Panama; however, local distribution is highly variable. Tropical forest habitat is rapidly being converted for agriculture and timber. Areas where human access was strictly limited showed tamarin densities significantly greater than in less protected areas. Disturbance has a distinct impact on population densities. There may also be a relationship between tamarin abundance and specific types of vegetation. Future actions regarding the conservation of S. geoffroyi and its habitat are recommended.
Climate and seasonal reproduction in the Cayo Santiago macaques
Authors: Rawlins Richard G. , Kessler Matt J.
Published: June 2005

This paper reports the results of an eight‐year study of seasonal reproduction in the free‐ranging colony of rhesus monkeys on Cayo Santiago, Puerto Rico. There was a significant correlation between the start of the annual spring rainy season and the estimated median conception date (r = .94, p < .001) and median birth date (r = .94, p < .001). Conceptions followed the commencement of spring rains by 70 days. Significant and negative correlations were found between the number of days from the start of the rains to the first conception (r = −.93, p < 0.01) and median conceptions (r = −.91, p < .01). When spring rains were delayed, the interval between the onset of rains and conceptions decreased linearly. The median birth date for the Cayo Santiago population was accurately predicted for 1984 using two methods. When results from Cayo Santiago were applied retrospectively to data from the colony of rhesus monkeys near La Parguera, Puerto Rico, it explained the three‐month difference in seasonality of reproduction between the two populations located at the same latitude (18°N). Photoperiod, as a function of latitude, appears to set the temporal limits of seasonal reproduction in rhesus macaques, while the onset of spring rains regulates reproductive activity within that range, at least in the Cayo Santiago population. The biological channel through which the effect is mediated has not been identified.