PubMed Health⌕ Search

Biomedical subjects

T Padre-Mendoza

Publications and source records attributed to T Padre-Mendoza.

12 recordsLinked to original sources
PubMed1987

Klinefelter syndrome and associated fragile-X syndrome.

During screening of male individuals for Fragile-X syndrome in a residential facility for persons with mental retardation, the authors found a 21-year-old profoundly retarded man who displayed facial features and behaviour suggestive of Fragile-X syndrome. The chromosome analysis revealed 47,fra(X)(q27)fra(X)(q27)Y. His physically and intellectually normal sister had 14% of X chromosomes with a fragile site. Her two sons, who were subsequently examined, were found to have Fragile-X syndrome. Thus, the identification of Fragile-X syndrome in the proband during the screening process of a large institution led to the investigation of the proband's family and the subsequent diagnosis of Fragile-X syndrome in the proband's two nephews. The ascertainment of the two affected boys permitted prompt introduction of early intervention and special education services. Genetic counselling of other at-risk family members was carried out.

Adult↗
PubMed1985

Frequency of fragile X chromosome in normal females.

Because of the ambiguities in diagnosing carriers of the fragile X syndrome, we studied thirty-six normal females to determine whether the fragile site at Xq27 can be seen in noncarrier females and at what frequency. A fragile site at Xq27 was identified in one out of thirty-six females, occurring at a frequency of 0.5% in her peripheral lymphocytes. We conclude that the fragile Xq27 site occurs only rarely in noncarrier females and that each laboratory should determine its own baseline frequencies of fragile X in order to most accurately distinguish between normal and carrier women.

Adult↗
PubMed1985

Neurological findings in patients with the fragile-X syndrome.

We report two brothers with previously unexplained mental retardation and seizures who had dysmorphic facial features, macro-orchidism, and a fragile site at the X chromosome. This recently described syndrome is the second most common chromosome aberration associated with mental retardation after Down's syndrome. In order to determine the prevalence of seizures and the frequency of specific neurological features, we studied a total of 17 patients with the fragile X syndrome. 41% had grand mal seizures; 41% had extensor plantar responses; 47% had hyperactive behaviour and 65% exhibited stereotypics; 59% had incoordination and 35% had blepharospasm. We emphasise the need for chromosome analysis of patients with unexplained mental retardation, specific phenotypic abnormalities, and large testes.

Adult↗
PubMed1982

Cat-like cry and mental retardation owing to 7q interstitial deletion (7q22 leads to 7q32).

A patient with mental retardation and mild facial dysmorphism had a karyotype which was considered to be normal before the availability of chromosomal banding techniques. She had a history of a cat-like cry and severe feeding problems during infancy. At the age of 9, she was still found to have initial aphonia on trying to initiate sounds. Repeat chromosome analysis with G banding showed an interstitial deletion of the long arm of chromosome 7.

Abnormalities, Multiple↗
PubMed1980

Partial trisomy 21.

This report presents and 18 1/2-year-old patient with clinical features of Down syndrome and severe mental retardation due to partial trisomy 21. Cytogenetic studies using Giemsa banding chromosomes revealed translocation of the 21q21 qter segment onto the short arms of chromosome #8 (46,XY,--8, + t(8qter 8p23::21q21 21 qter)). It is recommended that patients with features of Down syndrome whose chromosome analysis was done prior to introduction of banding studies undergo repeat karyotyping.

Adolescent↗
PubMed1979

Pure red cell hypoplasia associated with long-arm deletion of chromosome 5.

A further instance of the new hematologic entity of pure red cell hypoplasia with deletion of the the long arm of a chromosome 5(5q-) was seen in a 59-year-old white male. Examination of the bone marrow showed depressed erythroid cells with normal granulocytic and megakaryocytic precursors. Chromosomal analysis showed deletion of a chromosome 5 without any apparent translocation. This karyotype may be associated with acute leukemia.

Anemia, Aplastic↗
PubMed1979

Y chromosome loss in childhood leukaemias.

During the past 3 1/2 years cytogenetic studies have been performed on all children with leukaemia prior to treatment. Loss of the Y chromosome documented by chromosome banding techniques, was observed in bone marrow blast cells from two of II consecutive male children. On patient had acute myeloblastic leukaemia of t(8;21) type. The other patient was diagnosed as acute lymphoblastic leukemia. Our studies provide evidence that Y loss occurs in childhood leukemias and is not necessarily related to an ageing process as suggested by others. Futhermore, this study demonstrates that Y loss can occur as a sole abnormality in non-myeloid leukaemia.

Adolescent↗
PubMed1977

Ph1-positive childhood leukemias: spectrum of lymphoid-myeloid expressions.

Two children presented with Ph1-positive leukemia, confirmed by Giemsa banding as 22q-. One child showed an initial presentation characteristic of acute lymphoblastic leukemia, followed by development of chronic myelocytic leukemia 2 yr later. A second child presented in blast crisis. Both patients showed blast cells possessing both lymphoid and myeloid characteristics, as demonstrated by histochemical, biochemical, or surface receptor properties of each cell series. The evidence provided supports the assumption of mixed lymphoid-myeloid properties of blast cells in chronic myelocytic leukemia in children. Detailed study of the leukemic cells may aid in the understanding of complex stem cell relationships and suggest more effective therapeutic approaches.

Bone Marrow↗
PubMedDate not supplied

Chronic granulocytic leukemia and carcinoma of the cervix in situ following renal transplantation.

A 26-year-old white female presented with Philadelphia chromosome positive chronic granulocytic leukemia five years after successful renal transplantation and prolonged therapy with azathioprine and prednisone. This patient represents the seventh case of the chronic granulocytic leukemia reported within the population of immunosuppressed renal transplant recipients. Of further interest in our case is the development of carcinoma in situ of the cervix two years following the transplant. Although multiple malignancies have been recognized in renal homografts, the occurrence of chronic granulocytic leukemia and carcinoma in situ in the same patient has not been previously described. A possible mechanism for the development of chronic granulocytic leukemia is the association of chromosome damage by azathioprine and immunoparalysis of the host, thus setting the stage for the emergency of a malignant clone. The importance of close follow-up of patients on prolonged immunosuppressive therapy is emphasized.

Adult↗