Mosaic male fetus of Turner syndrome with partial chromosome Y: A case report

2018 ◽  
Vol 44 (6) ◽  
pp. 1158-1162 ◽  
Author(s):  
Dan Xue ◽  
Dong-Hua Cao ◽  
Kai Mu ◽  
Yuan Lv ◽  
Jun Yang
Keyword(s):  
Case Report ◽  
Turner Syndrome ◽  
Male Fetus ◽  
Chromosome Y

Combination of turner syndrome and congenital adrenal hyperplasia: a rare case report

2017 ◽  
Author(s):  
Ivana Sagova ◽  
Dušan Pavai ◽  
Matej Stančik ◽  
Helena Urbankova ◽  
Juliana Gregova ◽  
...  
Keyword(s):  
Case Report ◽  
Congenital Adrenal Hyperplasia ◽  
Turner Syndrome ◽  
Rare Case ◽  
Adrenal Hyperplasia ◽  
Rare Case Report

scholarly journals The value of a simple method to decrease diagnostic errors in Turner syndrome: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Seyedetahere Mousavi ◽  
Batool Amiri ◽  
Saidee Beigi ◽  
Mohammadreza Farzaneh
Keyword(s):  
Case Report ◽  
Standard Deviation ◽  
Physical Examination ◽  
Turner Syndrome ◽  
X Chromosome ◽  
Genetic Disorder ◽  
Diagnostic Errors ◽  
Height Velocity ◽  
Target Height ◽  
Simple Method

Abstract Introduction Turner syndrome is a genetic disorder in females and is the result of complete or partial loss of an X chromosome during fertilization. The missing X chromosome is originally either from the mother's ovum or the father's sperm cell. Approximately 45% of patients have the 45,X karyotype and the rest have other variants of Turner syndrome, which are either mosaicism patterns or structural abnormalities of the X chromosome. Here, we report a case of Turner syndrome that is the fifth case of Turner syndrome with balanced Robertsonian translocation of (13;14)(q10;q10), and the sixth case with 44,X chromosomes, reported in the literature thus far. Case presentation A 10.3-year-old Persian girl was brought to our clinic by her parents, with the complaint of failure to thrive and short height. She had been examined and investigated by endocrinologists since the age of 4 years, but no definite diagnosis was made. At the time of presentation, she had been through three provocative growth hormone tests and had been on no medications for about a year. Her physical examination revealed mild retrognathia and micrognathia. Initially, she was started on somatropin treatment which, after 12 months, did not appropriately improve her height velocity. Therefore, a more thorough physical examination was performed, in which high arched palate and low posterior hairline were observed. There was also a difference between target height and patient height standard deviation scores. Karyotype study was requested, and Turner syndrome was confirmed. Conclusion The diagnosis of this case was not straightforward, both because the somatic presentations were not obvious, and because the physicians had not looked for them when performing the physical examinations. This case report introduces a rare 44,X chromosome karyotype of Turner syndrome and highlights the value in using the difference between target height and patient height standard deviation scores as a simple and inexpensive tool for diagnosis of this syndrome.

Coats’ disease and bilateral cataract in a child with Turner syndrome: a case report

2005 ◽  
Vol 243 (12) ◽  
pp. 1291-1293 ◽  
Author(s):  
F. Beby ◽  
O. Roche ◽  
C. Burillon ◽  
P. Denis
Keyword(s):  
Case Report ◽  
Turner Syndrome ◽  
Bilateral Cataract ◽  
Coats Disease

Systemic sclerosis in a patient with turner syndrome: A case report and a review of associated autoimmune diseases

2021 ◽  
Author(s):  
Ripalta Colia ◽  
Natalia Mansueto ◽  
Addolorata Corrado ◽  
Cinzia Rotondo ◽  
Francesco Paolo Cantatore
Keyword(s):  
Case Report ◽  
Systemic Sclerosis ◽  
Autoimmune Diseases ◽  
Turner Syndrome

scholarly journals Tumoral calcinosis in child having turner syndrome - A case report

2006 ◽  
Vol 16 (3) ◽  
pp. 349 ◽  
Author(s):  
A Mukund ◽  
L Rawat ◽  
A Kumar ◽  
GL Sharma
Keyword(s):  
Case Report ◽  
Turner Syndrome ◽  
Tumoral Calcinosis

scholarly journals Rare combination of Turner syndrome and congenital adrenal hyperplasia with 21-hydroxylase deficiency: case report

2018 ◽  
Vol 64 (4) ◽  
pp. 432-436
Author(s):  
Ivana Ságová ◽  
Matej Stančík ◽  
Dušan Pávai ◽  
Daniela Kantárová ◽  
Anton Vaňuga ◽  
...  
Keyword(s):  
Case Report ◽  
Congenital Adrenal Hyperplasia ◽  
Turner Syndrome ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Rare Combination ◽  
21 Hydroxylase Deficiency

scholarly journals Chromosome Y Isodicentrics in two Cases with Ambiguous genitalia and Features of Turner Syndrome

2008 ◽  
Vol 11 (2) ◽  
pp. 51-58
Author(s):  
A Lungeanu ◽  
A Arghir ◽  
S Arps ◽  
G Cardos ◽  
N Dumitriu ◽  
...  
Keyword(s):  
Turner Syndrome ◽  
Y Chromosome ◽  
Ambiguous Genitalia ◽  
Peripheral Blood Lymphocytes ◽  
Chromosome Y ◽  
Y Chromosomes ◽  
New Information ◽  
Pathway Perturbation

Chromosome Y Isodicentrics in two Cases with Ambiguous genitalia and Features of Turner SyndromeKaryotype investigations using classical cytogenetics, fluorescencein situhybridization (FISH) and polymerase chain reaction (PCR) techniques were used for the characterization of Y chromosome structural anomalies found in two patients with ambiguous genitalia and features of Turner syndrome. Both exhibited mosaic karyotypes of peripheral blood lymphocytes. The karyotype was 45, X[90]/ 46, X, idic(Y)(p11.3).ish idic(Y) (wcpY+, DXYS130++,SRY++,DYZ3++,DYZ1++, DYS224++)[10] in one case, and the karyotype was 45, X[65]/46, X, idic(Y) (q11).ish idic(Y)(SRY++, RP11-140H23-)[35] in the other case. Derivative Y chromosomes were different in shape and size and positive for the SRY gene, a common underlying element of ambiguous genitalia phenotypes. These results add new information concerning the role of Y chromosome structural abnormalities in sex determination pathway perturbation which are poorly understood, and highlight the importance of the sex chromosomes integrity for a normal sex phenotype development.

scholarly journals Down-Turner syndrome: case report and review.

1994 ◽  
Vol 31 (10) ◽  
pp. 807-810 ◽  
Author(s):  
G J Van Buggenhout ◽  
B C Hamel ◽  
J C Trommelen ◽  
H Mieloo ◽  
D F Smeets
Keyword(s):  
Case Report ◽  
Turner Syndrome

scholarly journals The phenotype of a pig with monosomy X resembling Turner syndrome symptoms: a case report

2019 ◽  
Vol 65 (3) ◽  
pp. 231-237 ◽  
Author(s):  
Kazuhiro UMEYAMA ◽  
Kazuaki NAKANO ◽  
Hitomi MATSUNARI ◽  
Takeshi YAMADA ◽  
Koki HASEGAWA ◽  
...  
Keyword(s):  
Case Report ◽  
Turner Syndrome ◽  
Monosomy X
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