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Biomedical subjects

K Taysi

Publications and source records attributed to K Taysi.

At least 37 records · Page 2Linked to original sources
PubMed1980

Trisomy 21 in bone marrow cells of a patient with a prolonged preleukemic phase.

The clinical, hematologic, and cytogenetic findings are described in a patient who developed clinical and hematologic features of acute myelogenous leukemia (AML) after a three-year period of observation with unexplained thrombocytopenia. Five months before the diagnosis of AML she developed hepatosplenomegaly and a lupus-like syndrome. At this time she was also found to have trisomy 21 in all bone marrow cells studied, in addition to trisomy 8 in a few cells. The finding of trisomy 21 in all of the bone marrow cells examined could reflect a nonrandom alteration in the leukemic stem line or it might indicate that mosaic patients with trisomy 21 cells in their bone marrow share the increased risk of AML that has been documented for trisomy 21 patients.

Bone Marrow↗
PubMed1980

Familial Williams syndrome.

Characteristic features of the Williams syndrome were observed in a mother and her presumably dizygotic twin daughters, suggesting either an X-linked dominant, autosomal dominant or multifactorial inheritance in this pedigree. The Williams syndrome generally has been thought to have a sporadic occurrence. The rare familial occurrence, however, suggests a possible heterogeneity in its etiology and also points out the importance of careful examination of the other family members for proper genetic counseling.

Abnormalities, Multiple↗
PubMed1980

Familial pericentric inversion 19.

Several members in two families were found to have a pericentric inversion of chromosome 19. A review of four previous cases, together with those reported here, suggests that inversion of chromosome 19 is not related to the phenotypic features of the probands. Furthermore, there has been no report of an affected subject resulting from a duplication deficiency product of inverted chromosome 19 among the offspring of inversion heterozygotes. The suggested association of aneuploidy in the inversion carriers is also discussed.

Chromosome Banding↗
PubMed1980

Partial trisomy of the short arm of chromosome 8 resulting from balanced maternal translocation.

Extra chromosomal material on the long arm of chromosome 15 was found in an infant with growth retardation, dysmorphic features, skeletal abnormalities, and congenital heart defect. The phenotypically normal mother had a balanced translocation between the short arm of chromosome 8 and the long arm of chromosome 15: 46,XX,t(8:15)(p12:q25). Thus, the patient was partially trisomic for the short arm of chromosome 8 (p12 leads to pter). Comparison of the clinical data obtained from patients with partial trisomy of the short arm of chromosome 8 with those of full trisomy 8 (Warkany's syndrome) suggests that most of the clinical features of Warkany's syndrome require excess material from both the short and long arm of chromosome 8.

Chromosomes, Human, 6-12 and X↗
PubMed1979

Partial duplication of the long arm of chromosome 5: a case due to balanced paternal translocation and review of the literature.

A partial duplication of the distal segment of the long arm of chromosome 5 (q31 leads to qter) was observed in an infant with congenital malformations and dysmorphic features. The phenotypically normal father had a balanced translocation between the long arm of chromosome 5 and the short arm of chromosome 9: 46,XY,t(5;9)(q31;p24). The clinical and cytogenetic data obtained from six patients with partial duplications of two different long arm segments of chromosome 5 suggest that partial duplication of the distal long arm of chromosome 5 is associated with microcephaly, hypertelorism, epicanthus, strabismus, large upper lip, low-set, dysplastic ears, in addition to growth and psychomotor retardation. Partial duplication of the proximal part of the long arm of chromosome 5, on the other hand, is associated mainly with musculoskeletal abnormalities including muscle hypotrophy and hypotonia, scoliosis, lordosis, pectus carinatum, cubitus valgus, and genu valgum, in addition to psychomotor retardation. The dysmorphic features in this latter group include a bulging forehead, short nose, thick upper lip, low-set protruding ears and tapering, thin fingers.

Abnormalities, Multiple↗
PubMed1979

Presumptive long arm deletion of chromosome 8: a new syndrome?

This communication describes an infant with growth and psychomotor retardation and severe congenital malformations, who was found to have an interstitial deletion of the long arm of chromosome 8: 46,XY,del(8) (q13q22). Comparison with the only other previously reported patient with a deletion of a similar chromosomal segment suggested that deletion of the long arm of chromosome 8 may constitute a clinically recognizable syndrome.

Abnormalities, Multiple↗
PubMed1979

Partial trisomy 13 as a result of de novo (6p;13q) translocation.

A newborn infant with the clinical features of the Patau syndrome was found to have excess chromosome 13 material present as a tandem translocation involving the short arm of chromosome 6 and the long arm of an extra chromosome 13: 46,XY,t(6;13)(p24;q12). The major part of the long arm of the extra chromosome 13 was attached linearly (tandem translocation) to the short arm of chromosome 6. Both parents were phenotypically and karyotypically normal.

Abnormalities, Multiple↗
PubMed1979

Concordant congenital malformations in twins with inherited translocation: t(9p--;13q+).

Several members of a family with a translocation between the short arm of chromosome 9 and the long arm of chromosome 13(9p--;13q+) are presented. Although the translocation found in various members of the family looked alike and appeared to be balanced, the clinical features were different. The like-sex twins displayed some features of 9p monosomy syndrome, whereas their mother and maternal grandmother, who apparently had the same translocation, showed only a few features of 9p-- syndrome in addition to mild mental retardation. We suggest that a minute deletion of the short arm of chromosome 9 may cause features of 9p-- syndrome and that the clinical features of this syndrome in older individuals may be too mild for the clinical diagnosis to be possible.

Abnormalities, Multiple↗
PubMed1978

Partial trisomy of chromosome no. 1 in two adult brothers due to maternal translocation (1q--;6p+).

Extra chromosome material on the short arm of chromosome no. 6 (46,XY,6p+) was found in two mentally retarded adult half-brothers with mildly dysmorphic features. The phenotypically normal mother had a balanced translocation between the long arm of chromosome no. 1 and the short arm of chromosome no. 6:46,XX,t(1;6)(q32;p25). Thus the two affected brothers were trisomic for the long arm segment of chromosome no. 1, distal to q 32. These patients, with mildly dysmorphic features and mental retardation, represent the first cases of partial trisomy 1q surviving to adult-hood. The clinical and cytogenetic data obtained from eight individuals with partial trisomies for different long arm segments of chromosome no. 1 suggest that partial trisomy of the distal two-thirds of the long arm in characterized by severe malformations, growth retardation, and early death. Conversely, partial trisomy for the distal one-third of the long arm is associated with milder malformations and longer survival time as well as growth and mental retardation.

Adult↗
PubMed1978

Partial trisomy for the short arm of chromosome 2 due to familial balance translocation.

A partial trisomy for the short arm of chromosome 2 (p21 leads to pter) was observed in a severely retarded infant with facial, skeletal, genital, renal, and CNS anomalies. The phenotypically normal mother and older brother had a balanced translocation between the short arm of chromosome 2 and the long arm of chromosome 14: 46, XX-XY,t(2;14)(p21;q32).

Abnormalities, Multiple↗
PubMed1975

Satellite association: Giemsa banding studies in parents of Down's syndrome patients.

Association patterns of acrocentric chromosomes in 3032 cells from chromosomally normal parents of regular mongols (nondisjunctional trisomy 21) and normal controls were studied by the Giemsa banding technique. In each group, chromosome No. 21 was found to be involved in satellite association more frequently than other acrocentric chromosomes. The most frequently seen association was between No. 21 and 22. However, no difference was shown between the parental test group and the normal controls in regard to these frequencies. These results render less tenable the proposed linkage between satellite association and the etiology of mongolism.

Adult↗