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Archives of Disease in Childhood. Fetal... May 2007
Review
Topics: Child; Congenital Abnormalities; Databases, Factual; Female; Humans; Male; Medical History Taking; Mutation; Pedigree; Physical Examination; Syndrome; Terminology as Topic
PubMed: 17449858
DOI: 10.1136/adc.2006.110619 -
The Medical Clinics of North America Jul 1969
Review
Topics: Adolescent; Adult; Child, Preschool; Chromosome Aberrations; Chromosome Disorders; Congenital Abnormalities; Counseling; Female; Genetics, Medical; Humans; Infant, Newborn; Male; Morbidity; Mutation; Preventive Health Services; Probability; Referral and Consultation
PubMed: 4892647
DOI: No ID Found -
Ugeskrift For Laeger Oct 2001
Topics: Child; Chromosome Aberrations; Chromosome Disorders; Congenital Abnormalities; Genetic Testing; Humans
PubMed: 11665462
DOI: No ID Found -
Annual Review of Public Health 1993
Review
Topics: Animals; Child, Preschool; Chromosome Aberrations; Chromosome Disorders; Congenital Abnormalities; Developmental Disabilities; Environmental Exposure; Epidemiologic Methods; Fathers; Female; Genes, Lethal; Humans; Infant, Newborn; Life Style; Male; Mice; Neoplasms; Pregnancy; Pregnancy Outcome; Public Health; Translocation, Genetic
PubMed: 7686758
DOI: 10.1146/annurev.pu.14.050193.001111 -
Experientia Oct 1986Of particular concern to the human geneticist are the effects of genetic abnormalities on development. To gain an understanding of these effects it is necessary to... (Review)
Review
Of particular concern to the human geneticist are the effects of genetic abnormalities on development. To gain an understanding of these effects it is necessary to engage in a reciprocal process of using knowledge of normal developmental events to elucidate the mechanisms operative in abnormal situations and then of using what is learned about these abnormal situations to expand our understanding of the normal. True developmental genes have not been described in man, although it is likely that they exist, but many developmental abnormalities are ascribable to mutations in genes coding for enzymes and structural proteins. Some of these even produce multiple malformation syndromes with dysmorphic features. These situations provide a precedent for asserting that not only monogenic developmental abnormalities, but also abnormalities resulting from chromosome imbalance must ultimately be explicable in molecular terms. However, the major problem confronted by the investigator interested in the pathogenesis of any of the chromosome anomaly syndromes is to understand how the presence of an extra set of normal genes or the loss of one of two sets of genes has an adverse effect on development. Several molecular mechanisms for which limited precedents exist may be considered on theoretical grounds. Because of the difficulties in studying developmental disorders in man, a variety of experimental systems have been employed. Particularly useful has been the mouse, which provides models for both monogenic and aneuploidy produced abnormalities of development. An example of the former is the mutation oligosyndactylism which in the heterozygous state causes oligosyndactyly and in the homozygous state causes early embryonic mitotic arrest. All whole arm trisomies and monosomies of the mouse can be produced experimentally, and of special interest is mouse trisomy 16 which has been developed as an animal model of human trisomy 21 (Down syndrome). In the long run, the most direct approach to elucidating the genetic problems of human development will involve not only the study of man himself but also of the appropriate experimental models in other species.
Topics: Animals; Chromosome Aberrations; Chromosome Disorders; Congenital Abnormalities; Disease Models, Animal; Down Syndrome; Genes; Humans; Morphogenesis; Syndactyly
PubMed: 3021509
DOI: 10.1007/BF01941286 -
Journal of Inherited Metabolic Disease 1994Clinical delineation of dysmorphic syndromes is important for patient management, family counselling and basic research. Productive areas of research in dysmorphology... (Review)
Review
Clinical delineation of dysmorphic syndromes is important for patient management, family counselling and basic research. Productive areas of research in dysmorphology and developmental biology have included the study of the mouse homologies of human disease. Mutations have been identified in both species in highly conserved 'developmental' genes, and also because of phenotypic similarity of syndromes. Mosaicism--somatic, germline and placental--involving chromosomal aneuploidy, single gene mutations and functional differences between cell lines is an important cause of malformations and syndromes. Many recurrent pattern malformation syndromes of previously unknown cause have now been found to be due to chromosomal microdeletions. Diagnosis has been greatly aided by the molecular cytogenetic technique of fluorescent in situ hybridization.
Topics: Animals; Chromosome Mapping; Congenital Abnormalities; Disease Models, Animal; Gene Deletion; Humans; Mice; Mosaicism; Mutation
PubMed: 7967494
DOI: 10.1007/BF00711359 -
Seminars in Ultrasound, CT, and MR Aug 1998Screening for fetal abnormalities has become one of the most high profile health care issues of modern times. This issue is predicated on major advances in health care... (Review)
Review
Screening for fetal abnormalities has become one of the most high profile health care issues of modern times. This issue is predicated on major advances in health care technology that permit wider detection of fetal anomalies, including the development of more advanced biochemical markers and improvements in ultrasound imaging. The effectiveness of these screening methods and their rational application is a point of great controversy, and is the cause of considerable unease in clinical obstetrical practice. This article reviews the general concepts of fetal screening for fetal chromosome abnormalities and then focuses on certain aspects of ultrasound screening that are particularly controversial. The scientific basis for each ultrasound finding (e.g., nuchal translucency) is reviewed, as well as the frequently divergent clinical experience with the finding. Finally, a plea is made for the development of a more scientific database for fetal ultrasound screening, and the setting of fetal screening guidelines for practicing physicians based on diagnostic accuracy and cost-effectiveness.
Topics: Aneuploidy; Chromosome Aberrations; Chromosome Disorders; Congenital Abnormalities; Female; Fetal Diseases; Humans; Pregnancy; Ultrasonography, Prenatal
PubMed: 9718659
DOI: 10.1016/s0887-2171(98)90088-9 -
Current Gene Therapy 2014The spalt (sal) family is a class of evolutionarily conserved genes originally identified in Drosophila as homeotic genes required for embryonic development. In... (Review)
Review
The spalt (sal) family is a class of evolutionarily conserved genes originally identified in Drosophila as homeotic genes required for embryonic development. In vertebrates, the expression of sal-like 4 (SALL4) is specifically enriched in both embryonic and adult stem/stem-like cells. SALL4 is a master regulator that contributes to cell stemness in biological development and tumor growth. Thus, Sall4 has emerged as a target for gene therapy. In addition, numerous mutations affecting the Sall4 gene have been discovered and clinically linked to a series of congenital abnormalities, such as Duane/Duane-related syndromes, ventricular septal defect and premature ovarian failure. This review delineates the underlying mechanisms of key functions of SALL4 and its use as a target for gene therapy. Finally, I summarize and discuss advances made on the application of Sall4 and its functions in diagnostics and treatments for human diseases.
Topics: Abnormalities, Multiple; Adult; Humans; Mutation; Stem Cells; Transcription Factors
PubMed: 25174577
DOI: 10.2174/1566523214666140825125138 -
Journal of Perinatal Medicine Nov 2018
Topics: Aneuploidy; Congenital Abnormalities; Female; Humans; Pregnancy; Prenatal Diagnosis
PubMed: 30422803
DOI: 10.1515/jpm-2018-0333 -
Yi Chuan = Hereditas Feb 2009To study the relationship between chromosomal abnormality and clinical ending events of reproductive abnormality, G-banding and karyotype analyses were carried out by... (Review)
Review
To study the relationship between chromosomal abnormality and clinical ending events of reproductive abnormality, G-banding and karyotype analyses were carried out by using chromosome preparations from peripheral blood lymphocytes. Out of 5 774 cases with reproductive abnormality, 550 individuals had chromosomal abnormalities. Among them, 255 cases (46.36%) were trisomy, 91 cases (16.55%) were reciprocal translocation, 85 cases (15.45%) were chromosomal inversion, 81 cases (14.73%) were deletions, 21 cases (3.82%) were Robertsonian translocation, 7 cases (1.27%) were short arm increment, 6 cases (1.09%) were Y chromosome increment and 4 cases (0.73%) were abnormal satellites. Thirty-two cases with novel chromosomal abnormality karyotypes in them, being complicated by miscarriage, sterility, and congenital malformation, were firstly reported. The results suggested that chromosomal abnormality could be the one of main factors related to the bad reproductive ending events.
Topics: Chromosome Aberrations; Chromosome Banding; Chromosome Deletion; Chromosome Disorders; Chromosome Inversion; Congenital Abnormalities; Female; Humans; Karyotyping; Male; Pregnancy; Translocation, Genetic; Trisomy
PubMed: 19273421
DOI: 10.3724/sp.j.1005.2009.00142