Studi Cromosomici nella Sindrome di Turner

1965 ◽  
Vol 14 (2) ◽  
pp. 182-199 ◽  
Author(s):  
F. Franceschini ◽  
B. Dallapiccola ◽  
N. Ricci ◽  
B. Ventimiglia
Keyword(s):  
Chromosome Number ◽  
Karyotype Analysis ◽  
Chromosome Complement ◽  
Turner's Syndrome ◽  
Late Replication ◽  
Turner’S Syndrome ◽  
Cytogenetic Studies

SUMMARYCytogenetic studies were performed in six clinically typical cases of Turner's syndrome. In five of them an XO chromosome complement was observed. In the sixth case the chromosome number appeared normal, but karyotype analysis revealed the presence of three large metacentric chromosomes similar to No. 3. A diagnosis of presumptive isochromosome for the long arm of X was suggested by the autoradiographic evidence of late replication and by the presence of larger than normal Barr bodies and drumsticks.

scholarly journals Karyotype analysis with orcein and CMA in two species of Alocasia (Schott) G. Don (Araceae)

1970 ◽  
Vol 40 (1) ◽  
pp. 53-56 ◽  
Author(s):  
Syeda Sharmeen Sultana ◽  
Hosne Ara ◽  
Sheikh Shamimul Alam
Keyword(s):  
Chromosome Number ◽  
Key Words ◽  
Karyotype Analysis ◽  
Chromosome Complement ◽  
Taxonomic Status ◽  
The Other ◽  
First Report ◽  
Total Length ◽  
Internet Information ◽  
Chromosomal Length

Alocasia fallax Schott and A. odora (Roxb.) Koch (Araceae) were investigated cytogenetically to confirm their taxonomic status. There is no report of 2n chromosome number for A. fallax in the available literature and internet information. Therefore the 2n chromosome number (2n = 28) found in this study is probably the first report for A. fallax. Alocasia odora showed exactly double 2n chromosome number (2n = 56) from A. fallax. In addition to chromosome number, the other karyotypic features of A. odora were exactly double for that of A. fallax. The centromeric formulae of A. fallax was 24 m + 4 sm whereas it is just double in A. odora. Total length of 2n chromosome complement of A. odora (62.58 μm) was almost double to A. fallax. The range of chromosomal length of the two species was almost same. Moreover, A. odora plant is much taller than A. fallax. All of these data suggests that A. odora might be an autotetraploid of A. fallax which in course of evolution had undergone some changes in GC-rich repeats. Key words: Alocasia; CMA; Karyotype analysis DOI: http://dx.doi.org/10.3329/bjb.v40i1.7998 Bangladesh J. Bot. 40(1): 53-56, 2011 (June)

CHROMOSOME COMPLEMENT IN GONADAL DYSGENESIS (TURNER'S SYNDROME)

The Lancet ◽  
1959 ◽  
Vol 273 (7078) ◽  
pp. 886 ◽  
Author(s):  
M. Fraccaro ◽  
K. Kaijser ◽  
J. Lindsten
Keyword(s):  
Gonadal Dysgenesis ◽  
Chromosome Complement ◽  
Turner's Syndrome ◽  
Turner’S Syndrome

PLASMA LEVEL OF GROWTH HORMONE AND CHROMOSOME COMPLEMENT IN FOUR PATIENTS WITH GONADAL DYSGENESIS (TURNER'S SYNDROME)

1960 ◽  
Vol XXXIV (IV) ◽  
pp. 496-507 ◽  
Author(s):  
Marco Fraccaro ◽  
Carl A. Gemzell ◽  
Jan Lindsten
Keyword(s):  
Bone Marrow ◽  
Growth Hormone ◽  
Sex Chromosome ◽  
Bone Marrow Cells ◽  
Chromosome Complement ◽  
Culture Method ◽  
Target System ◽  
Turner's Syndrome ◽  
Turner’S Syndrome

ABSTRACT Elevated levels of growth hormone (GH) were found in the plasma of four patients with Turner's syndrome. The somatic chromosome complement of these patients was determined by using a cell culture method. Bone marrow cells from three patients had 45 chromosomes instead of the normal number of 46. The missing chromosome is all probability one of the two X chromosomes. These subjects have therefore a sex chromosome constitution of the XO type. The fourth patient had a complement of 45 chromosomes in the skin cells but in bone marrow cultures cells with 45 and 46 chromosomes were found. During successive transfers in vitro the cells with 46 chromosomes outnumbered those with 45. It is assumed that in these patients the production of growth hormone by the pituitary gland is normal but a target system, as yet unidentified, is defective or absent.

scholarly journals Successful pregnancy outcome in a woman with Turner’s syndrome

2014 ◽  
Vol 7 (3) ◽  
pp. 126-127
Author(s):  
E Church ◽  
A Bellis ◽  
I O’Connell ◽  
N Naqvi
Keyword(s):  
Chromosome Complement ◽  
Significant Risk ◽  
In Vitro Fertilisation ◽  
Obstetric Outcomes ◽  
Turner's Syndrome ◽  
Aortic Dilatation ◽  
Turner’S Syndrome ◽  
Successful Pregnancy ◽  
Hypertensive Disorders ◽  
Cardiovascular Assessment

Women with Turner’s syndrome have a high incidence of cardiovascular complications, endocrine and hypertensive disorders. Those with the 45X chromosome complement require oocyte donation and in vitro fertilisation to conceive. Pregnancies in such women are challenging to manage due to the high risk of pregnancy-related hypertensive disorders, impaired glucose tolerance, fetal growth restriction and preterm birth. Women also need to be aware of the significant risk of aortic dilatation, dissection or rupture in pregnancy, which may be fatal. Despite these risks, favourable obstetric outcomes are achievable with careful pre-pregnancy counselling and cardiovascular assessment, intensive multidisciplinary antenatal monitoring and individualised delivery planning. We report the case of a 33-year-old woman with Turner’s syndrome, pre-existing hypertension, insulin-dependent diabetes and primary hypoparathyroidism who had a successful pregnancy with good maternal and fetal outcomes despite the complexity of her medical conditions.

scholarly journals Karyotype analysis in Chaerophyllum cicutaria Vill. with special emphasis on satellited chromosomes

2014 ◽  
Vol 56 (1) ◽  
pp. 61-72
Author(s):  
Włodzimierz Chojnacki ◽  
Jerzy Bohdanowicz
Keyword(s):  
Chromosome Number ◽  
Karyotype Analysis ◽  
Natural Populations ◽  
Chromosome Complement ◽  
Chromosome Morphology ◽  
Single Pair

Karyological studies were carried out on plants of <em>Chaerophyllum cicutaria (Umbelliferae)</em>, which came from both lowland and montane natural populations. The chromosome number in all the examined plants was 2n = 22 and their karyotypes, though similar in general, showed some minute but distinct differences. There was` a single pair of SAT chromosomes in the chromosome complement. They had compound satellites divided into two or three segments. Seven morphological types of SAT chromosomes differing in number and size of satellite segments were distinguished. With respect to SAT chromosome morphology, the species showed both intra- and interpopulational karyological variation.

Scanning and Transmission Electron Microscopy of the Endometrium in Women with Ovarian Dysgenesis (Turner'S Syndrome)

1976 ◽  
Vol 34 ◽  
pp. 148-149
Author(s):  
A. González-Angulo ◽  
S. Armendares-Sagrera ◽  
I. Ruíz de Chávez ◽  
H. Marquez-Monter ◽  
R. Aznar
Keyword(s):  
Surface Epithelium ◽  
Secretory Cells ◽  
Turner's Syndrome ◽  
Ciliated Cells ◽  
Turner’S Syndrome ◽  
Exogenous Hormone ◽  
Ovarian Dysgenesis ◽  
Transmission Electron ◽  
Normal Women ◽  
Microscopy Examination

It is a well documented fact that endometrial hyperplasia and adenocarcinoma may develop in women with Turner's syndrome who had received unopposed estrogen treatment (1), as well as in normal women under contraceptive medication with the sequential regime (2). The purpose of the present study was to characterize the possible changes in surface and glandular epithelium in these women who were treated with a sequential regime for a period of between three and eight years. The aim was to find organelle modifications which may lead to the understanding of the biology of an endometrium under exogenous hormone stimulation. Light microscopy examination of endometrial biopsies of nine patients disclosed a proliferative pattern; in two of these, there was focal hyperplasia. With the scanning electron microscope the surface epithelium in all biopsies showed secretory cells with microvilli alternating with non secretory ciliated cells. Regardless of the day of the cycle all biopsies disclosed a large number of secretory cells rich in microvilli (fig.l) with long and slender projections some of which were branching (fig. 2).

ON THE FREQUENCY OF MALFORMATIONS IN THE DIFFERENT FORMS OF TURNER'S SYNDROME

1974 ◽  
Vol 77 (1_Suppl) ◽  
pp. S48 ◽  
Author(s):  
F. Majewski ◽  
J. R. Bierich ◽  
M. Barz ◽  
W. F. Haberlandt ◽  
M. Stoeckenius
Keyword(s):  
Turner's Syndrome ◽  
Turner’S Syndrome

Growth and development in girls with Turner's syndrome during early therapy with low doses of estradiol

1986 ◽  
Vol 113 (4_Suppl) ◽  
pp. S157-S163 ◽  
Author(s):  
K.W. KASTRUP ◽  
_ _
Keyword(s):  
Growth Velocity ◽  
Final Height ◽  
Bone Age ◽  
Growth Spurt ◽  
First Year ◽  
Turner's Syndrome ◽  
Turner’S Syndrome ◽  
Early Therapy ◽  
Group I ◽  
Group Ii

Abstract Early therapy with a low dose of estrogen (estradiol-17β) was given to 33 girls with Turner's syndrome (T.s.) for a period of 4 years. The dose (0.25-2 mg/day) was adjusted every 3 months to maintain plasma estradiol in the normal concentration range for bone age. Growth velocity was compared with that of untreated girls with T.s. All girls were above age 10 years. Bone age was below 10 years in 11 girls (group I) and above 10 years in 22 girls (group II). Growth velocity in the first year of treatment in group I 7.5 ± 1.3 cm (SD) with mean SD score (SDS) of +4.3 and in group II 4.9 ± 1.3 with mean SDS of +3.5. Growth velocity decreased in the following years to 1.6 ± 1.0 cm, SDS -1.44 in group I and 0.9 ± 0.6cm, SDS -2.34 in group II during the fourth year. Withdrawal bleeding occurred in 16 girls of group II after the mean of 23 (range 15-33) months and in 3 girls of group I after 15 to 51 months of treatment. The treatment did not cause an inappropriate acceleration of pubertal development. Breast development appeared in most girls by 3 months of treatment. Pubic hair appeared by 12 months of treatment in group I; it was present in most girls in group II at start of treatment. Final height is known for 12 girls of group II; it was 144.2 ± 4.5 cm. The final height as predicted at the start of therapy was 142.2 ± 5.3 cm. Bone age advanced in the first year of treatment by 2 years. Early treatment with small doses of estrogens induces a growth spurt and normalizes the events of puberty. This will presumably decrease the psychological risks associated with abnormally delayed development.

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