ABSTRACT
Hereditary simple ectopia lentis affected nine patients in three generations of a family. Inheritance appeared to be autosomal dominant. Examination of 12 family members, employing body proportion measurements, chest x-ray, echocardiogram, and urinary cystine or blood methionine levels, revealed no evidence of any systemic disease. In all cases except two, lenses were bilaterally and superiorly dislocated. The degree of dislocation varied considerably among those affected, causing no visual disturbance in some and severely limiting visual acuity in others. Visual deficits were greatest in patients with intermediate degrees of dislocation. To date, the only known complications related to the dislocations have been two cases of bilateral cataracts. The indications for lensectomy in patients with ectopia lentis are reviewed.
Subject(s)
Ectopia Lentis/genetics , Lens Subluxation/genetics , Ectopia Lentis/classification , Ectopia Lentis/pathology , Ectopia Lentis/physiopathology , Humans , Male , Middle Aged , Pedigree , Vision, Ocular , Visual AcuityABSTRACT
In 1968 a 2-year-old boy with Wiskott-Aldrich syndrome was extremely ill with eczema, a series of life-threatening infections, and repeated hemorrhages into his skin, lungs, brain, and other internal organs. He was given high-dose cyclophosphamide therapy for immunosuppression, followed by bone marrow cells from his histocompatible, healthy sister. In the 15 years since bone marrow transplantation, he has had full T cell, partial B cell, and no hematopoietic engraftment. He has weathered the usual infectious diseases of childhood, has had no serious infections, and despite persistent thrombocytopenia has not had serious bleeding episodes.
Subject(s)
Bone Marrow Transplantation , Wiskott-Aldrich Syndrome/therapy , B-Lymphocytes , Blood Platelets/ultrastructure , Bone Marrow/immunology , Child, Preschool , Follow-Up Studies , Humans , Immunoglobulins/analysis , Immunosuppression Therapy , Karyotyping , Leukocyte Count , Major Histocompatibility Complex , Male , Platelet Count , T-Lymphocytes , Wiskott-Aldrich Syndrome/immunologyABSTRACT
HLA-A and B antigens were determined in a study of 37 couples and their children with trisomy 21 Down syndrome (DS), using a standard microlymphocytotoxicity test. The comparison groups included 76 couples and their healthy children. All individuals were Caucasians from the same geographical area, and there was no history of consanguinity. The parents of children with DS did not show an association with a specific HLA antigen or haplotype. Sixteen of the 37 couples (43.24%) having children with DS share two or more antigens at the A and/or B locus. This was significantly higher than the proportion in the control group (6/76, or 7.88%). Of the 16 couples having children with DS and sharing two or more antigens, eight had a haplotype in common, in contrast with only two couples in the control group. The data suggest that sharing of parental HLA-A and B antigens may be related either to the occurrence of trisomy 21 zygotes or to prenatal survival of affected embryos and fetuses.
Subject(s)
Down Syndrome/genetics , Gene Frequency , Genetic Variation , HLA Antigens/genetics , Adult , Child , Down Syndrome/immunology , Female , Genotype , HLA-A Antigens , HLA-B Antigens , Humans , Male , ParentsSubject(s)
Genetic Diseases, Inborn/prevention & control , Alleles , Anemia, Sickle Cell/blood , Cystic Fibrosis/diagnosis , Female , Genes, Dominant , Genes, Recessive , Genetic Carrier Screening , Genetic Testing , Humans , Infant, Newborn , Male , Metabolism, Inborn Errors/genetics , Mutation , Neural Tube Defects/diagnosis , Phenylketonurias/diagnosis , Phenylketonurias/genetics , Pregnancy , Prenatal Diagnosis , Risk , Tay-Sachs Disease/diagnosis , Tay-Sachs Disease/genetics , X ChromosomeABSTRACT
In 1956 the correct number of chromosomes was established in man, and in 1959 the well-recognized syndromes of Down, Turner and Klinefelter were shown to be associated with chromosomal anomalies. During the following 10 years more than 100 chromosomal anomalies were discovered by what now appear to have been rather crude and undiscriminating techniques, as reflected in the repeated attempts to standardize the human karyotype, first at Denver in 1960, then in London in 1963 and in Chicago in 1966. At the Second Denver Conference in 1970 a dramatic change took place as a result of the introduction of a technique by which every individual chromosome could be distinguished; by the time the next Conference on Standardization in Human Cytogenetics was held, in Paris in 1971, additional techniques had been developed that could distinguish not only every chromosome but also different regions of each chromosome. We are now able to define normal variants reliably, identify extra chromosomes involved in abnormalities accurately, recognize small defects which were missed previously and map structural defects precisely by tracing exchange segments of chromosomes. Cytogenetics should be used by the clinician to establish a diagnosis as a guide to a rational plan of management, as a guide to prognosis and genetic counseling and for monitoring pregnancies in people at increased risk of having children with defects associated with chromosomal anomalies.
