ABSTRACT
Clinico-syndromologic, cytogenetic and biochemical screening embraced 330 patients of a specialized pediatric clinic. Of all cases of diseases 78.8% were either fully or partially accounted for by hereditary factors: 54% chromosome-related syndromes, 5.2% monogenic syndromes, 3.6% nonclassified combinations of developmental anomalies 16% isolated congenital defects of development. Others (21.2%) displayed the organic CNS defects, embryo- and fetopathies due to environmental impacts. The study resulted in diagnosis changes in 6.7% of the cases and identification of 14 hereditary syndromes. The prevalence of hereditary pathology in the morbidity structure of this contingent strongly suggests the necessity of medical genetic consultation in their families.
Subject(s)
Congenital Abnormalities/diagnosis , Genetic Diseases, Inborn/diagnosis , Hospitals, Pediatric , Hospitals, Special , Child, Preschool , Congenital Abnormalities/epidemiology , Congenital Abnormalities/genetics , Genetic Diseases, Inborn/epidemiology , Genetic Diseases, Inborn/genetics , Humans , Infant , Infant, Newborn , Karyotyping , Male , Moscow , SyndromeSubject(s)
Craniofacial Dysostosis , Intellectual Disability , Scoliosis/congenital , Child, Preschool , Clubfoot , Female , Fingers , Humans , Syndrome , ToesABSTRACT
A case of a family of he proband suffering from ektrodaktyly, together with heart defect, cleft lip and palate is reported. The parents came to the genetic counselling center to get the genetic prognosis for a next child. All together 3 cases demonstrating different types of radial defects were registered in this pedigree. The authors discuss possible causes of clinical polymorphism and accent the complications of giving genetic prognosis in such cases.
Subject(s)
Cleft Lip/genetics , Cleft Palate/genetics , Fingers/abnormalities , Heart Defects, Congenital/genetics , Child , Female , Genetic Counseling , Humans , Infant , Male , Pedigree , SyndromeABSTRACT
Clinical and cytogenetic data on the infant with mental retardation, multiple congenital anomalies and trisomy for the short arm of the 4th chromosome (46, XY, der (1) (1;4) (q43; p15) are given. The abnormal chromosome was inherited from the father who had a balanced translocation 46, X; (1, 4) (q43; p15). Clinical features of the patient corresponded to those in the observation of other authors.
Subject(s)
Abnormalities, Multiple/genetics , Chromosomes, Human, 1-3 , Chromosomes, Human, 4-5 , Intellectual Disability/genetics , Translocation, Genetic , Trisomy , Child, Preschool , Humans , MaleABSTRACT
PIP: The authors conducted a study on genetic disorders. They analysed 337 cases of patients coming for a consultation on progeny prognosis. The duration of the study was 2 1/2 years (1973, 1974 and the 1st semester of 1975). The study revealed the existence of the following main types of progeny genetic problems: chromosome pathology (114 cases); multifactorial diseases (121 cases); and monogenous diseases (47 cases). The most common problems are chromosome abnormalities and multifactorial diseases.^ieng
Subject(s)
Genetic Counseling , Humans , USSRABSTRACT
In district of the Samarkand province the screening for families burdened with multiple cases of non-infectious diseases was performed. The principles of the applied screening procedure are described in the present paper. In the course of clinical examination 98 families were detected, 55 of which included more than one person suffering presumably with Mendelian diseases and 43--with multifactorial disorders. Over 30 nosological forms were found, among which orthopaedic and neurological forms were the most frequent. As a rule, identical cases were detected in one or two families. The role of certain genetic processes in the distribution of hereditary diseases in the Uzbek population is discussed.
Subject(s)
Genetic Diseases, Inborn/epidemiology , Humans , Mass Screening , UzbekistanABSTRACT
The frequency of twinning among newborns with Down's syndrome (2,11+/-0,6%)was significantly higher than in the general populaltion (0,73+/-0,3%). The increase in the rate of multiple births of children with trisomy-21 occurred due to almost three-fold excess in the frequency of dizygotic (discordant) twin pairs over the expected level. The increase in the frequency of dizygotic twins with Down's syndrome was explained by the combined effect of two independent factors: the increase in probability of dizgotic twins natality and the enhanced rate of children birth with trisomy-21, which depended on the increase in mother's age.
