1/19. sex chromosome mosaicism of X/XY or X/XY/XYY.To date, we have studied 7 patients with X/XY mosaicism, one of whom showed an X/XY/XYY pattern. Four patients presented as newly born infants because of incomplete male development, ambiguity of external genitalia or turner syndrome. The other 3 patients presented in midchildhood or early adult life. Bilateral gonadectomy, histologic examination of the gonads for tumor or testicular tissue, and chromosome analysis from blood and gonad specimens (and usually skin) were done in these 7 patients. The Y cell line and mosaicism were always detected in the blood culture although the predominant cell line in the majority of tissues was 45,X. The y chromosome in one of the patients failed to show the expected bright fluorescence over the long arm, and the y chromosome of another patient previously reported had a terminal nonfluorescing portion of the long arm. patients with masculinization showed normal height and, on laparotomy, mixed gonadal dysgenesis. patients with turner syndrome showed bilateral streak gonads (2) and, in one 2 1/2-year-old girl, a bilateral gonadoblastoma. All patients with turner syndrome were less than the third percentile in height. All 7 patients were reared as female, 4 of them requiring surgery to diminish the size of the clitoris. All 7 patients appeared to be developing normally. Nonrecognition or delay of the diagnosis, which still occurs in this condition, appears to be a result of the mild physical abnormalities in some patients and a clinical diagnosis of turner syndrome supported only by a negative X-chromatin result.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/19. angiokeratoma corporis diffusum in a patient with normal enzyme activities and Turner's syndrome.A case of angiokeratoma corporis diffusum (ACD) involving the skin of a 26-year-old patient with Turner's syndrome presenting with normal physical and mental development is reported. The unusual nature of this association confirms the theory that ACD presenting with skin lesions alone is a rare but specific clinical entity which differs from the hereditary sphingolipidoses like Fabry's disease.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
3/19. Toxicity and outcome of intensive chemotherapy for acute lymphoblastic leukemia complicated with Turner's syndrome.A 17-year-old woman was diagnosed as acute lymphoblastic leukemia (ALL). As she had chromosomal abnormalities of 44, XO, der(9)t(3;9)(q11;p13), der(10;19)(q10;p10), del(15)(q15), -16, -19, 22 with the presence of ovarian dysplasia and abnormal physical features, a diagnosis of Turner's syndrome was made. She received an induction chemotherapy, which consisted of daunorubicin, cyclophosphamide, vincristine, L-asparaginase and prednisolone. Although, severe liver dysfunction was observed, the patient achieved a complete remission (CR) on day 31 following chemotherapy and has maintained CR for more than five years. The recording of such cases may well be of value to clarify toxicity and outcome after chemotherapy for patients with ALL complicated with Turner's syndrome.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
4/19. A case of turner syndrome associated with acute myeloid leukemia (M2).A 9-year-old girl was diagnosed as acute myeloid leukemia-M2 according to the French-American-British classification. In addition, a diagnosis of turner syndrome (TS) was made, on the basis of the presence of the chromosomal abnormality, ovarian failure, and abnormal physical features. In particular, children with down syndrome have increased risk of developing acute myeloblastic leukemia especially M7. On the other hand, cases of myeloid leukemia that are complicated with TS are extremely rare. This is the first report of TS with acute myeloid leukemia of M2 subtype and t (8; 21) in children.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
5/19. Monozygotic twins discordant for Ullrich-turner syndrome.We describe 9-year-old twin girls who were thought to be monozygotic but who differed greatly in physical appearance and growth pattern. One twin had Ullrich-turner syndrome (UTS), 45,X/46,XX mosaicism in peripheral blood, and only 45,X cells in skin fibroblasts. The phenotypically normal twin also had 45,X/46,XX mosaicism in blood but only 46,XX cells in cultured fibroblasts. Analysis of dna marker patterns in blood lymphocytes and in skin fibroblasts confirmed monozygosity with a probability of 99.97%. This case is compared with other reported cases of discordance for UTS in twins. It is concluded that essentially all of the differences between the two twins can be explained by loss of an x chromosome early in embryogenesis with complete separation of 45,X and 46,XX cell lineages at the time of the twinning event. The presence of mosaicism in the peripheral blood of both twins is presumably due to anastomoses between the placentae resulting in a mixture of the two cell populations in the hematopoietic tissue.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
6/19. Coming up short: the physical, cognitive, and social effects of Turner's syndrome.Turner's syndrome, a sex-linked genetic disorder, affects approximately 1 in 2,000 women. Characterized by short stature and sterility, these women also are predisposed to a variety of physical stigmata, including heart and kidney defects. In this article the author describes the impact of Turner's syndrome on patients and family members and gives guidelines for social work intervention.- - - - - - - - - - ranking = 5keywords = physical (Clic here for more details about this article) |
7/19. A case of turner syndrome with the karyotype of 45,X/46,X,i(Xq) associated with acute monocytic leukemia.An infertile 37-year-old woman was diagnosed as having acute monocytic leukemia (AMoL) (FAB classification; M5b). In addition, a diagnosis of infertile turner syndrome was made, based on the presence of the ovarian dysplasia, abnormal physical features (short stature, lack of pubic hair, shield-like chest, etc.), and low urinary estrogen excretion with high plasma gonadotropin level. Karyotypes in the peripheral blood and bone marrow cells were mosaic 45,X and 46,X,i(Xq): isochromosome Xq, which were consistent with infertile turner syndrome. No further chromosomal abnormalities were found during the course of her treatment for leukemia. This is the first report of the combination of turner syndrome and AMoL. However, this patient did not have any of the other autosomal chromosomal abnormalities which are common in acute non-lymphocytic leukemias.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
8/19. The importance of surgical evaluation of patients with "Turner-like" sex chromosomal abnormalities.Children with "pure" gonadal dysgenesis do not require abdominal explorations to remove their gonads, because the risk of development of malignancy is minimal. Children with "mixed" gonadal dysgenesis, who usually present with sexual ambiguity, need to have gonadectomy because of the high incidence of malignancy in these gonads. We present four children (three adolescents and one two year old) who presented with minimal somatic anomalies, who did not have sexual ambiguity. The prominent features were primary amenorrhea and short stature in the adolescents, and minor dysmorphic features in the small child. On the basis of these physical features, complete genetic evaluation was carried out, and a Y chromosome or an unidentifiable fragment was identified in all four cases. At exploration, bilateral genital streaks were found, and were removed. In addition to the usual microscopic features of the streaks, leydig cells and tubular structures resembling rete testis were seen in all the gonads. In one gonad, a gonadoblastoma was found. Since this type of gonad is "at risk" for the development of gonadoblastoma, the need for complete genetic evaluation of all females with "Turner-like" chromosomal abnormalities, although phenotypically female, is emphasized. If a y chromosome or any unusual fragment is identified, exploration should be carried out, and any gonad that is not a normal ovary should be removed.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
9/19. fertility in women with Turner's syndrome. Case report and review of literature.A successful pregnancy in a woman with Turner's syndrome with a 45,X/46,XX karyotype is described. The literature contains reports of a total of nine pregnancies in seven women with a 45,X karyotype and 56 pregnancies in 23 women with mosaicism and a 45,X cell line, as well as a 46,XX and/or 47,XXX cell line. Fifteen of the latter 56 pregnancies ended in spontaneous abortion (27 per cent), and four ended in the delivery of a stillborn child; 12 of the 37 liveborn infants (32 per cent) had a physical or mental abnormality, and 8 (22 per cent) had a chromosome abnormality. Three had Down's syndrome, and five had a 45,X cell line. Due to the relatively high (8 per cent) incidence of Down's syndrome among liveborn infants of women with Turner's syndrome, amniocentesis for fetal karyotyping should be advised.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
10/19. Y-autosome translocation, gonadal dysgenesis, and gonadoblastoma.A 5-year-old girl was discovered to have an abnormal karyotype with a translocation involving the y chromosome. The primary complaint was slight physical growth retardation. Cytogenetic and endocrinologic evaluations were performed. The chromosomal complement exhibited a mosaicism: 45,X,t(Y;18)(q11;p11)/45,X0. The gonads of this patient were typical streaks containing no ova or follicles. A gonadoblastoma was present bilaterally.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
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