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K Taysi

Publications and source records attributed to K Taysi.

At least 19 recordsLinked to original sources
PubMed2001

Obstetric ultrasonographic findings and fetal chromosomal abnormalities: refining the association.

OBJECTIVE: In an attempt to refine the role of ultrasonography in screening and identifying fetuses at risk for chromosomal abnormalities, a retrospective review of patients undergoing genetic amniocentesis was undertaken. STUDY DESIGN: Computer databases from the perinatal biology laboratory and cytogenetics laboratory of our institution were correlated to compare the results of the fetus' ultrasonographic examination with the cytogenetic results from amniocentesis. Univariate and multivariate analysis were used to determine the best correlations between ultrasonographic findings and chromosomal abnormalities (study 1). The results were used to construct regression analysis formulas and a Neural Network program to predict the presence or absence of chromosomal abnormalities in a second set of patients (study 2) undergoing genetic amniocentesis. RESULTS: One hundred twenty-five chromosomal abnormalities were found in 3775 fetuses in study 1 (3.3%). Multivariate analysis showed significant correlations between anomalies of the central nervous system, heart, face and neck, and extremities and increased nuchal fold, increased bowel echogenicity, abnormal biparietal diameter-to-femur ratio, and the presence of chromosomal abnormalities. Regression equations and a Neural Network program successfully predicted the presence or absence of fetal chromosomal abnormalities in a second set of 901 at-risk fetuses. CONCLUSION: A normal ultrasonographic examination result in patients who are at increased risk for fetal chromosomal abnormalities reduces the risk 2- to 3-fold, whereas the presence of any major ultrasonographic abnormality or certain minor abnormalities significantly increases the risk. The application of these results to low-risk patients is still premature.

Adolescent↗
PubMed2000

CD30+ anaplastic large-cell lymphoma with aberrant expression of CD13: case report and review of the literature.

CD13 is commonly expressed in hematopoietic malignancies of myelomonocytic origin and has less commonly been described in lymphoid neoplasms, including acute lymphoblastic leukemia, B-cell lymphoproliferative disorders, and plasma cell malignancies. Aberrant CD13 expression has rarely been described in KP-1 (CD68)-positive large-cell lymphomas. However, CD13 positivity has not previously been described in a case of CD30+ (ALK-1+) anaplastic large-cell lymphoma of presumed null-cell origin without histiocytic differentiation. The purpose of this case report is to describe a CD30+ anaplastic large-cell lymphoma of presumed null-cell origin with aberrant expression of CD13. The case illustrates the unique usefulness of immunophenotypic and molecular techniques in establishing the correct diagnosis. The case was referred with a diagnosis of "rule out granulocytic sarcoma versus megakaryocytic malignancy" due to the morphology and a limited flow cytometric immunophenotypic (FCI) panel that had been performed and revealed expression of CD45, HLA-DR, and CD13. Subsequent morphologic review at our institution combined with an expanded FCI panel established the diagnosis. The differential diagnosis of a CD13+ hematopoietic malignancy should include this entity. The prognostic significance of this finding has yet to be determined.

Adolescent↗
PubMed1995

Comprehensive ultrasound examination in a private perinatal practice.

A retrospective review of the types of patients seen and the accuracy of the diagnosis made was undertaken for patients referred for comprehensive ultrasound examination in a large private perinatal practice. A review of the perinatal ultrasound database, neonatal intensive care database, and hospital charts was done in 1338 patients referred to the perinatal ultrasound laboratory for comprehensive ultrasound examination during a 2-year period. Accuracy of the ultrasound diagnosis and relationships between structural anomalies seen on ultrasound examination and perinatal outcome was undertaken. Positive and negative predictive values for the ultrasonic diagnosis were 82% and 98%, respectively. There were 19 (1.4%) false-positive diagnoses and 38 (2.8%) false-negative diagnoses. There was a high correlation between structural anomalies and chromosomal anomalies, with 15 of the 87 infants (17.2%) with structural anomalies also having chromosomal anomalies. The accuracy of ultrasonic diagnosis for comprehensive examinations in a large private perinatal practice compared favorably with previous reports in the literature. The information presented in this study should be helpful to obstetric centers with similar patient populations.

Congenital Abnormalities↗
PubMed1988

Preconceptional counseling.

Women who have a greater chance of having a high-risk pregnancy can benefit most from counseling before pregnancy occurs. These women include older individuals, those with recurrent pregnancy loss, members of specific ethnic groups, those exposed to potential teratogenic agents, patients with metabolic or genetic diseases, and those with an obstetric history of isoimmunization, previous cesarean section, or preterm delivery. Preconceptional counseling is an extension of prenatal care intended to minimize the maternal and fetal risk, to prevent birth defects, and to provide high-risk women with information about the risk and available options. Most of these options are viable only if the patient is aware of their availability before attempting conception. It is the physician's responsibility to provide preconceptional counseling to such women or to refer them to centers where such counseling services are available.

Alcoholism↗
PubMed1986

18q deletion syndrome in a child with steroid-17,20-lyase deficiency.

The del (18q) syndrome is characterised by poor growth, variable mental retardation, facial dysmorphism, and abnormalities of the genitalia. In genetic males, genital abnormalities vary from testicular ectopia, and microphallus to severe hypospadias. Genetic females frequently have hypoplasia of the labia minora. We describe a child with del (18q) syndrome and severe ambiguous genitalia. Serum testosterone after 4 doses of hCG (5000 IU/m2/dose) was only 50 ng/dL (expected greater than 300 ng/dL). When testicular tissue was incubated with [1,2-3H]progesterone and 17-hydroxy-[4-14C]progesterone, there was synthesis of 17-hydroxy-[1,2-3H]progesterone but no further metabolism of 17-hydroxyprogesterone to androgens. These data suggested the presence of steroid-17,20-lyase deficiency. In order to determine if steroid-17,20-lyase deficiency was a common feature in del (18q) syndrome we examined 6 other patients (3 girls; 3 boys) with a deletion of the long arm of chromosome 18 distal to band q21. All 6 had dehydroepiandrosterone sulfate (DHEA-S) levels which were lower than those of age-matched controls. Four had delayed puberty. Serum testosterone levels were also low in 2 of the 3 affected boys. These results together with the findings in the index case suggest that a structural or regulatory gene for steroid-17,20-lyase may be located on the long arm of chromosome 18, distal to band q21.

Abnormalities, Multiple↗
PubMed1985

Congenital absence of left pericardium in a family.

Characteristic radiographic findings of absence of the left pericardium were observed in two relatives who were related to two other individuals with different types of congenital heart defects. Familial occurrence of congenital absence of pericardium has not been reported previously. The strong male sex predilection in the previously reported patients, the segregation pattern of affected individuals in the pedigree presented here, and the presence of two other individuals with multifactorially determined congenital heart defects in the same pedigree suggest multifactorial determination of congenital absence of the left pericardium.

Adolescent↗
PubMed1985

Partial trisomy 11p with interatrial septal aneurysm. Case report and literature review.

A newborn female infant presented with hypotonia, joint hyperextensibility, cardiac murmur, macroglossia, and hepatosplenomegaly. Karyotype of the child revealed partial trisomy of chromosome 11p derived from a paternal balanced translocation. Echocardiogram obtained in the newborn period suggested interatrial aneurysm, which was confirmed on post-mortem examination. Interatrial septal aneurysm is a rare abnormality not previously described in partial trisomy 11p.

Chromosome Banding↗
PubMed1983

Brief clinical report: del(X) (q26) in a phenotypically normal woman and her daughter who also has trisomy 21.

We present a phenotypically normal woman with del(X)(q26) with no evidence of mosaicism, who had two pregnancies resulting in two live-born infants. Her first child had trisomy 21 Down syndrome and the del(X)(q26). To our knowledge, this woman is the first known case of presumably nonmosaic del(Xq) producing live-born infants. This finding can be explained on the basis of persistence into adulthood of germ cells in ovaries of the rare del(Xq) individuals. The normal phenotype in this woman supports the hypothesis that the absence of genes of middle Xq segment (q13 leads to q26) is responsible for the somatic manifestations of the Ullrich-Turner syndrome. Our finding suggests that prenatal diagnosis should be offered not only to pregnant women with numerical X chromosome abnormalities, as suggested previously, but also to those with structural X chromosome abnormalities, because of the possibility of chromosome aberrations in the offspring of such women.

Adult↗
PubMed1983

Ring chromosome 6: variability in phenotypic expression.

We present four children with a ring chromosome 6. Clinically, these cases are quite variable. A review of ten previously reported cases also suggests difficulty of phenotype-karyotype correlation in patients with a ring 6.

Adult↗
PubMed1983

Trisomy 6q22 leads to 6qter due to maternal 6;21 translocation. Case report review of the literature.

Partial trisomy for the long arm of chromosome 6, involving 6q22 leads to 6qter, was observed in a 2-month-old male infant. The mother was 6q;21p translocation carrier. A review of the previously published cases with trisomies of different 6q segments suggests that the critical segment responsible for the clinically recognizable phenotype of 6q trisomy seems to be limited to bands 6q26 and/or 6q27.

Abnormalities, Multiple↗
PubMed1983

Familial hemifacial microsomia.

Hemifacial microsomia, a relatively distinct clinical form in the Facio-Auriculo-Vertebral Spectrum is generally thought to be a sporadic event, although infrequent familial occurrences have been reported. In this communication, we describe a family with three males and two females in two successive generations affected with hemifacial microsomia. The pedigree is most compatible with autosomal dominant inheritance, although X-linked dominant or multifactorial inheritance cannot be excluded.

Ear, External↗
PubMed1983

Partial trisomy 10q in three unrelated patients.

This communication describes three unrelated patients with growth and psychomotor retardation, multiple congenital anomalies, and dysmorphic features who were found to have trisomies for the different long arm segments of chromosome 10. After reviewing the clinical and cytogenetic data from the literature and our three patients we concluded that: a) There are at least two different clinical syndromes associated with long arm trisomy of chromosome 10 only one of which, the well known 10q trisomy syndrome, is characterized with specific clinical features. The only trisomic segment common in this latter group of patients with similar phenotype, yet with different trisomic segments, is the distal two bands, q25 and q26. Therefore the determinants for the well-delineated 10q trisomy syndrome seems to be located on the distal bands q25 and q26 and this syndrome would preferably be named "distal 10q trisomy syndrome". b) The patients with proximal and/or middle long arm segment trisomies of chromosome 10 are rare and they have yet undefined clinical features.

Child↗
PubMed1982

Down's syndrome phenotype and autosomal gene inactivation in a child with presumed (X;21) de novo translocation.

A 3 1/2-year-old female with clinical features of Down's syndrome was found to have extra chromosome material on the long arm of one of the X chromosomes, 46,XXq+. The parental karyotypes were normal. In the light of the clinical features of the proband an the banding characteristics of the extra chromosome material, the patient was thought to have a de novo (X;21) translocation. The results of late replication studies with BUdR and enzyme superoxide dismutase (SOD) assays in the proband suggest that: (1) the presumed (X;21) translocation chromosome was the late replicating chromosome; (2) the spread of inactivation extended from the Xq segment of the translocation chromosome to the proximal part of the segment derived from chromosome 21, leading to the inactivation of the autosomal gene for enzyme SOD; (3) the remaining distal portion of the (X;21) translocation chromosome, a part of a segment presumably derived from chromosome 21, was spared from the spread of inactivation so that this part was still genetically active and responsible for the Down's phenotype; (4) therefore, the main determinants for a Down's phenotype may be located more distally (q22.2 or q22.3 or both) than the SOD gene (q22.1) on the long arm of chromosome 21.

Bromodeoxyuridine↗
PubMed1982

Terminal deletion of the long arm of chromosome 10 : q26 to qter. Case report and review of literature.

This communication describes the fourth known patient with a terminal long arm deletion of chromosome 10. The karyotype is : 46,XX,del(10)(q26). The clinical findings in the patient included intrauterine growth retardation, microcephaly, truncus arteriosus type 1, respiratory distress and craniofacial dysmorphism. Although review of the limited number of patients with a similar deletion reveals several common features, there is yet insufficient evidence to define a distinct 10q--syndrome.

Abnormalities, Multiple↗
PubMed1982

Terminal long arm deletion of chromosome 7 and retino-choroidal coloboma.

This communication describes a 7-year-old male with growth and psychomotor retardation and dysmorphic features who has a small terminal deletion of the long arm of chromosome 7. The proband, in addition, had bilateral coloboma of the retina and choroidea which was not reported previously in patients with this rare chromosomal deletion syndrome. Our finding and available data in the literature on the association of the coloboma of the eyes with various chromosomal abnormalities points out the importance of karyotype studies in such patients, especially in the presence of concomitant extraocular findings.

Adult↗