A clinical and cytogenetic study of Turner syndrome

Forty five case of Turner syndrome diagnosed in the Genetics Clinic, between January 1986 and December 1993, were analyzed. The most commonly observed karyotype was 45, X (44.4%), followed by 45, X/46, XX mosaicism (24.4%). Less frequently demonstrated karyotypes were 45, X/46, X, i (Xq) mosaicism and 46, X, i (Xq) (13.3%). Mosaicism for chromosome was seen in 6.7% of patients. Patients with 45, X karyotype had short stature (85%), dysmorphic facies (60%), delayed appearance of secondary sexual characters (100%) and primary amennorhea (100%). Those with 45, X/46, XX mosaicism were less often dysmorphic and presented with either primary or secondary amenorrhea. Patients with 45, X karyotype were younger at diagnosis and had a significantly shorter mean adult height than those with 45, X/46, XX mosaicism. The phenotype in patients with other karyotypic abnormalities was similar to the 45, X group. Short stature and primary or secondary amenorrhea occurring together in a female strongly suggests the possibility of Turner syndrome, which should be confirmed by chromosomal analysis.     

Growth & development. Turner syndrome

This article examines the prediction of risk and dangerousness and identifies aspects relevant to a risk assessment by mental health professionals, in particular nurses.     

Current aspects of Turner syndrome

Recent progress in the clinical, genetic and therapeutic knowledges of Turner's syndrome are presented. The quality of life of Turner's syndrome can be much improved by early treatment with recombinant human growth hormone which significantly increases the patient's final height, and appropriate oestrogenic therapy at pubertal and adult ages. However, this requires an early diagnosis. Consequently, a karyotype must be performed in every girl with delayed growth, even in the absence of clinical features of the Turner's syndrome.     

Prenatal and postnatal diagnoses of thalassemias and hemoglobinopathies by HPLC

The conventional approach to qualitative and quantitative analyses of hemoglobin (Hb) molecules for the diagnoses of hemoglobinopathies requires a combination of tests. We used an automated HPLC (VARIANT) system to study alpha-thalassemia and beta-thalassemia syndromes in Thailand. The beta-thalassemia short program is applicable to the diagnosis of alpha-thalassemia and beta-thalassemia disorders, including Hb H, EA Bart's disease, and EF Bart's disease, in adults, newborns, and fetuses. The system cannot quantify accurately certain Hb molecules, such as Hb H and Hb Bart's. The alpha-thalassemia short program was therefore developed and used to quantify Hb Bart's to detect alpha-thalassemia genotypes in cord blood. This automated HPLC system is an alternative approach to the diagnosis of complicated thalassemia syndromes in Thailand and Southeast Asia.     

Cephalometric evaluation of patients with Turner syndrome. Authors'' experience

Various preparations of egg yolk antibodies against different endotoxins of gram-negative bacteria were characterized with regard to their immunological properties. To do this, we investigated the reactivity of antibodies against a number of lipopolysaccharides and lipid-A by enzyme-immuno-assays and immunoblot. It could be shown that all antibody preparations contained specific antibodies, reactive with their homologous antigen. Furthermore these antibodies showed cross-reactivity with structural diverse LPS- and lipid A-antigens from different sources. Anti lipid A-antibodies appeared to be highly crossreactive with purified LPS and lipid A from several gram-negative organisms. Egg yolk antibodies raised by immunization with LPS showed cross-reactivity with enterobacterial LPS and only marginal reactivity with both LPS from other gram-negative bacteria and lipid A. The results from immunoblot experiments confirmed our findings from EIA-studies.     

Prenatal and postnatal anxiety in Mexican women giving birth in Los Angeles.

Examined psychosocial factors related to pre- and postnatal anxiety in 291 pregnant Mexican women (aged 15–38 yrs). Ss completed the State-Trait Anxiety Inventory and questions designed to assess variables such as preferred characteristics of health care providers. Higher prenatal anxiety was associated with less desire for an active role during labor, lower assertiveness, higher pain expectation at delivery, lack of support from family members other than the husband, and preferences for health care providers who are female and Latino. All Ss preferred health care providers who provided good medical explanations and who were knowledgeable, friendly, and sympathetic. Postnatal anxiety was significantly lower than prenatal anxiety. Negative attitudes toward the baby and number of complications during labor and delivery were related to postnatal anxiety adjusted for prenatal anxiety. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

A screening test for patients suspected of having Turner syndrome

An index has been devised using dermatoglyphics and selected physical traits to screen for patients suspected of having Turner syndrome. About 60% of females with and without Turner syndrome can be diagnosed as having or not having the syndrome with a 98% or greater probability. The patient's score on the index, expressed in probability, can be used to decide whether chromosome studies should be done. Using the approach demonstrated in this pilot study, the discriminative power can be increased by adding more features and by enlarging the sample to permit division of features into more discriminating classes.     

Prenatal diagnosis of Klippel-Trénaunay-Weber syndrome as a cause for in utero heart failure and severe postnatal sequelae

Ultrasound examination led to prenatal diagnosis of Klippel-Trénaunay-Weber syndrome complicated by early fetal congestive heart failure. The postnatal course was complicated by the Kasabach-Merritt syndrome of thrombocytopenia due to platelet consumption within the haemangioma. There was need for neonatal cardiopulmonary resuscitation and limb amputation.     

Psychosocial and sexual outcome in women with Turner syndrome

Results of an inquiry in adults patients (18-53 years of age) coming from three centers (1 in Rouen & 2 in Paris), 213 questionnaires were sent. 105 answers were received. Scholar achievement: only secondary cycle in 6%, Secondary cycle + professional course in 22% and tertiary cycle in 44%. No scholar ship in 2%, 26% were still ongoing studies. Professions: 18% are unemployed (24%), Secretary jobs: 10%, Health professions (altogether): 18%, Teachers: 8%, Clerks: 7%, Executive jobs: 8% and Miscellaneous jobs: 5%. 3% have an handicapped status. The small height was a career obstacle in 29%. Affective life. Age of first sexual intercourse was 19-22 years. 17 are or were married and 15% are living in couple. But 58% have not any sexual life whatsoever. These women are divided on the ways to cure the sterility. Few among the oldest have attempted adoption or medically assisted procreation, with each time low rate of success. 26% have psychological disturbances which were serious in 6% mainly due to depression.     

Prenatal etiologies of West syndrome

We investigated the etiology of West syndrome (WS) with special reference to prenatal factors in 180 cases. Prenatal cause was the most frequent diagnosis (77 cases, 42.8%), followed by perinatal (25 cases, 13.9%) and postnatal factors (12 cases, 6.7%); 48 cases (26.7%) were of uncertain etiology; eighteen cases (10.0%) were idiopathic. Of the three forms of age-dependent epileptic encephalopathy, prenatal cause was present in 12 of 15 cases (80.0%) of early-infantile epileptic encephalopathy with suppression-burst, 77 of 180 cases (42.8%) of WS, and 31 of 123 cases (25.2%) of Lennox-Gastaut syndrome (LGS). Prenatal factors of WS included tuberous sclerosis (23), chromosome abnormalities (10), cerebral dysgenesis (10), porencephaly (7), hydrocephalus (5), Aicardi syndrome (3), Aicardi syndrome associated with chromosome abnormality (1), and other causes (18). Chromosome abnormalities with WS consisted of 6 cases with 21 trisomy and one case each with 18q duplication, t(1;y) translocation, 7q duplication, and partial 2p trisomy. One patient with Aicardi syndrome also had a t(12;21) translocation. No significant difference was observed in the age of onset of WS among the five etiologic groups. The evolution from WS to LGS was not influenced by etiology, except for the idiopathic group. In patients followed for over 3 years, seizure remission occurred in 46.8% (22 of 47 cases) of the prenatal group. This was lower than the other four groups. Intellectual prognosis was also relatively poor in those with prenatal onset. Pyridoxal phosphate (PAL-P) treatment was effective in 9 of 70 (12.9%) prenatal cases and 5 of 18 (27.8%) idiopathic cases.(ABSTRACT TRUNCATED AT 250 WORDS)     

Prenatal diagnosis of Apert syndrome

Apert syndrome (AS) is clinically characterized by typical facial features and symmetrical syndactyly of the digits. AS is inherited as an autosomal dominant trait. Recently, a fibroblast growth factor receptors 2 (FGFR2) mutation, either C934G or C937G, was identified in exon IIIa. Our report documents an affected mother and son in whom one of the two mutations in AS had occurred sporadically in the mother. The diagnosed of AS was based on associated abnormal physical features and on molecular genetic analysis. A C-to-G transversion at position 937 of the cDNA resulting in a proline-to-arginine substitution at codon 259 was found in the mother. In her second pregnancy, prenatal diagnosis by both restriction analysis and direct sequencing was undertaken and this showed that the female fetus had not inherited the mutation.     

Prenatal maternal stress and prematurity: A prospective study of socioeconomically disadvantaged women.

Developed and tested a biopsychosocial model of birth weight and gestational age at delivery using structural equation modeling procedures. The model tested the effects of medical risk and prenatal stress on these indicators of prematurity after controlling for parity. Ss were 130 women (aged 18–42 yrs) of low socioeconomic status (SES) interviewed throughout pregnancy in conjunction with prenatal care visits to a public clinic. Ss also completed an abbreviated version of the Perceived Stress Scale (S. Cohen et al; see record 1984-24885-001) and the State form of the State-Trait Anxiety Inventory. Lower birth weight was predicted by earlier delivery and by prenatal stress. Earlier delivery was predicted by medical risk and by prenatal stress. Parity was not related to time of delivery or to birth weight. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Face and emotion recognition deficits in Turner syndrome: A possible role for X-linked genes in amygdala development.

Face recognition is thought to rely on configural visual processing, Where face recognition impairments have been identified, qualitatively delayed or anomalous configural processing has also been found. A group of women with Turner syndrome (TS) with monosomy for a single maternal X chromosome (45, Xm) showed an impairment in face recognition skills compared with normally developing women. However, normal configural face-processing abilities were apparent. The ability to recognize facial expressions of emotion, particularly fear, was also impaired in this TS subgroup. Face recognition and fear recognition accuracy were significantly correlated in the female control group but not in women with TS. The authors therefore suggest that anomalies in amygdala function may be a neurological feature of TS of this karyotype. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Fragile ''X'' syndrome. A case study

Aim of this paper is to assess the validity of bone scanning for radiation therapy treatment planning in the skeletal system. Radiation therapy treatment planning in the skeletal system is based on plain film radiographs and bone scanning. Between January 1, 1993 and June 30, 1994, 228 patients were irradiated due to malignancies in the skeletal system. Included were bone metastases, lymphomas, sarcomas and bone invasion of neuroblastoma. The morphological display of the plain film radiographs and the bone scintigraphies were compared and modifications of the target volume due to the scan findings quantified. In 17 of 228 patients (7.5%) the target volume was modified by at least 2 cm due to tumor invasion depicted by radionuclide scanning only. Bone scintigraphy enables a sensitive display of bony invasion in skeletal malignancies. Because of a scan induced alteration of the target volume in 7.5% of the cases, bone scanning cannot be abandoned in RT treatment planning.     

Familial prevalence and coaggregation of schizotypy indicators: A multitrait family study.

Schizophrenic probands (n?=?17), their 1st-degree relatives (n?=?61), and medically and psychiatrically screened normal control Ss (n?=?18) were studied with structured interviews for Diagnostic and Statistical Manual of Mental Disorders (DSM-III) Axis I disorders and schizotypal personality disorder, questionnaire measures of schizotypy, measures of smooth-pursuit eye movement dysfunction, and attention dysfunction. Schizophrenic Ss scored abnormally on essentially all measures. Relatives differed significantly from control Ss on most measures. Correlational analyses indicate that many characteristics tested in these measures run together in families. The data are consistent with the hypothesis that a single vulnerability dimension or typology, presumably in part genetically transmitted, may account for phenotypically distinct abnormalities. These traits, taken together, may have joint usefulness for identifying persons with a predisposition to schizophrenia. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Aortic aneurysm complicated with coarctation of the aorta and Turner syndrome

A 23-year-old female with Turner syndrome and horse-shoe kidney underwent the operation of the coarctation of the aorta associated with the thoracic aortic aneurysm. The aortic aneurysm was located between the left carotid artery and the coarctation of the aorta, and the subclavian artery which was branched away from the aortic aneurysm was also aneurysmal. Aneurysmectomies and the reconstruction of the descending thoracic aorta and the left subclavian artery were performed with knitted Dacron grafts under assisting of the left atriodescending thoracic aortic bypass with Bio-pump. The disease was rare and such a case was not reported previously.