Triploidy with cyclopia and identical HLA alleles in the parents.
نویسندگان
چکیده
A 22-week pregnancy was terminated after discovery of serious echographic abnormalities. Fetal examination showed cyclopia, sacral meningocele, and syndactyly. The karyotype was 69,XXX. The parents had identical HLA alleles A1, A2, and Bw21. The mechanism of the triploidy was determined by chromosome marker analysis to be digyny. The association of triploidy with holoprosencephaly and the parents' identical immunological status are discussed.
منابع مشابه
P-214: Parental Contribution of HLA-G*0106 and G*0105N to Repeated Implantation Failure
Background: HLA-G, as a tolerogenic molecule, expressed in cytotrophoblast cells and playing an important role in the suppression of the immune response in maternal decidua. Today Interaction of the extracellular domains of HLA-G protein with cell receptors of immune system, including CD8, LILRB1, LILRB2 and killer cell immunoglobulin-like receptor KIR2DL4, was well known. Materials and Methods...
متن کاملFrequencies of HLA-E*01:01/*01:03 Alleles in an Iranian Healthy Population and Its Comparison with Hyperglycemia Patients
Background and Aims: The human leukocyte antigen-E (HLA-E) is a member of non-classical HLA class-I genes which is highly conserved through evolution. In general, so far 25 alleles of HLA-E have been described. However, the existence of only two allelic group; HLA-E*01:01 and HLA-E*01:03 have been demonstrated in all the populations. HLA-E*01:01 and HLA-E*01:03 differ only at codon 107 of exon ...
متن کاملFrequencies of HLA-A, B and DRB1 alleles in a large normal population living in the city of Mashhad, Northeastern Iran
Objective(s): The population in Iran is a genetic admixture of the ancestral Aryan and other populations neighboring Iran. Different ethnic groups in Iran show wide regional distributions for many human leukocyte antigen (HLA) alleles. Therefore, it is necessary and sensible to study the differences in HLA allele distribution in different area. We studied the HLA class I and II allele frequenci...
متن کاملAssociation between HLA-Class I and HLA-Class II Alleles and Mycobacterium Tuberculosis Infection in Iraqi Patients from Baghdad City
Background: Pulmonary tuberculosis (PT) is one of the endemic diseases in Iraq, and among the suggested predisposing factors are alleles of the human leukocyte antigen (HLA) system. We sought to investigate the association between HLA-class I (A and B) and -class II (DR and DQ) alleles in a sample of PT Iraqi patients.Methods: lymphocytes of 105 PT patients and 40 controls were phenotyped for H...
متن کاملHLA Class I Gene Polymorphism in Iranian Patients with Papillon-Lefevre Syndrome
Background: Papillon-Lefevre Syndrome (PLS) is a rare autosomal recessive disorder characterized by diffused palmoplantar keratoderma and severe periodontitis. Increased susceptibility to infections due to impairment of the immune system is considered to be involved in pathoetiology of this disease. Objective: According to the crucial function of HLA molecules in immune responses and associati...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Journal of medical genetics
دوره 21 1 شماره
صفحات -
تاریخ انتشار 1984