ABSTRACT
Seven Brazilian Tay-Sachs disease cases were screened for the most frequent causative mutations. They all presented at least one copy of the IVS7+1g>c mutation. Three patients were homozygotes, three were compound heterozygotes, and in one case only the mother was tested and shown to carry the IVS7+1g>c mutation. In the second allele the compound heterozygotes presented: R178H (the DN allele), InsTATC1278 and an unidentified mutation. The IVS7+1g>c mutation has already been described in three Portuguese patients. In this study, all families were unaware of any Portuguese ancestry. Since Brazil was a Portuguese colony, the mutation most probably came from ancient common ancestry. The initial molecular analysis of Tay-Sachs disease patients in Brazil indicated a prevalence of the IVS7+1g>c mutation, possibly as a result of genetic drift.
Subject(s)
Mutation , Tay-Sachs Disease/genetics , Brazil , Gene Frequency , Heterozygote , Homozygote , Humans , Introns/genetics , Portugal/ethnologyABSTRACT
We report here a comparison of serum endostatin levels in Down syndrome patients to normal control subjects. We analysed serum samples from 35 patients with Down syndrome and 54 normal control subjects and found that although serum levels of endostatin vary widely in a normal human population, serum endostatin levels are significantly elevated in patients with Down syndrome. This result may explain the relative decrease in incidence of various solid tissue tumours observed in Down syndrome, given the role of endostatin as a potent inhibitor of tumour-induced angiogenesis in both human and animal models. Based upon these data, we propose that an increase of about one-third of normal endostatin serum levels may represent an effective therapeutic dose to significantly inhibit many solid tumours.
Subject(s)
Collagen/blood , Down Syndrome/blood , Peptide Fragments/blood , Adolescent , Adult , Child , Child, Preschool , Down Syndrome/genetics , Down Syndrome/prevention & control , Endostatins , Enzyme-Linked Immunosorbent Assay , Female , Humans , MaleABSTRACT
The authors report on a patient with tetrasomy 9p and 9qh due a karyotype 47,XY,+dic(9)(q12) in lymphocytes and a normal karyotype in fibroblasts. Clinical and complementary investigation revealed a malformation syndrome with many anomalies like those of trisomy 9p as well as Dandy-Walker cyst and Hirschsprung disease not previously described in tetrasomy 9p.
Subject(s)
Chromosome Aberrations/genetics , Chromosomes, Human, Pair 9 , Dandy-Walker Syndrome/genetics , Hirschsprung Disease/genetics , Chromosome Disorders , Humans , Infant, Newborn , Karyotyping , MaleABSTRACT
We report on a Brazilian family with six affected patients, in two generations, which presented flat face and feet anomalies ranging from mild metatarsus varus to severe clubfoot. Autosomal dominant pattern of inheritance can be demonstrated. Clinical and genetical aspects are discussed
Subject(s)
Child, Preschool , Child , Adolescent , Adult , Humans , Male , Female , Abnormalities, Multiple/genetics , Joint Dislocations/genetics , Face/abnormalities , Talipes/genetics , Pedigree , SyndromeABSTRACT
The 16-year old girl studied here had ambiguous external genitalia, ie, enlarged clitoris, pseudo vagina, and rudiments of Wolffian tubes. Her karyotype was 46,XY and she was H-Y antigen-positive. In spite of absence of gonadal tissue, genital virilization suggests presence of testes during embryogenesis. This patient is compared to 20 others with testicular regression from the literature. Autosomal-recessive inheritance of this condition is proposed.
Subject(s)
Androgen-Insensitivity Syndrome/genetics , Adolescent , Androgen-Insensitivity Syndrome/physiopathology , Androgens/blood , Chromosome Banding , Female , Follicle Stimulating Hormone/blood , H-Y Antigen/analysis , Humans , Karyotyping , Luteinizing Hormone/blood , Male , PhenotypeABSTRACT
Foi estudada uma crianca brasileira de sexo masculino, nascida de casal consanguineo e apresentando as caracteristicas tipicas da sindrome de Schwartz, bem como anomalia eletrocardiografica (sindrome de Lown-Ganong-Levine), sinais de insuficiencia cardiaca congestiva e anormalidades dentarias. Sao discutidos aspectos clinicos e geneticos
Subject(s)
Child , Humans , Male , Inappropriate ADH Syndrome , Tachycardia, Paroxysmal , Tooth Abnormalities , ElectrocardiographyABSTRACT
Cells from an XX true hermaphrodite expressed a reduced amount of H-Y antigen when compared with normal XY cells and with cells from his father, who had an XY/XX chromosomal constitution. His mother had a normal karyotype and was H-Y negative. The four brothers of the patient were clinically and karyotypically normal. An X-Y interchange followed by random inactivation of the X chromosome is proposed to explain the H-Y antigen titer found in the patient.
