First case reported of Turner syndrome and trisomy 14 chromosomal mosaicism in a patient

ABSTRACTTurner syndrome (TS) is a rare genetic disease due to the absence of one X chromosome. Patients with TS have more subtle neurological/neuropsychiatric problems, while headache is an uncommon clinical presentation which needs attention. We report a 12-year-old child presenting with typical cough headache. Her magnetic resonance imaging revealed Chiari I malformation associated with TS. To the best of our knowledge, Chiari I malformation associated with TS is not described in literature. We report the first case of TS associated with Chiari I malformation. Interestingly, Chiari I malformation is also associated with Noonan’s syndrome, which is a close morphological mimicker of TS, raising the possibility of sharing similar pathogenesis in both conditions.

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The occurrence of ocular diseases in patients with Turner syndrome

Open Medicine ◽

10.2478/s11536-013-0323-x ◽

2014 ◽

Vol 9 (5) ◽

pp. 680-686

Author(s):

Renata Brunnerova ◽

Jan Lebl

Keyword(s):

General Population ◽

Turner Syndrome ◽

X Chromosome ◽

Chromosomal Aberrations ◽

Colour Vision ◽

Frequent Occurrence ◽

Chromosomal Mosaicism ◽

Refractive Errors ◽

Ocular Diseases ◽

Colour Vision Deficiency

AbstractTurner syndrome is among the most common chromosomal aberrations. It is caused by a missing or anomaly of one X chromosome, alternatively a chromosomal mosaicism. It is often connected with a more frequent occurrence of some ocular diseases. In our study 81 girls and women with Turner syndrome from the age of 5 to 23 years old were examined. The occurrence of ocular diseases and their possible connection with karyotype was the main focus of our attention. Myopia had the highest incidence in these girls, further there were hyperopia, epicanthus, colour vision deficiency, amblyopia, strabismus and ptosis. The occurrence of colour vision deficiency was higher than in the general population where it differs in sexes. The occurrence of strabismus and ptosis was higher than in the general population. The total range of refractive errors was slightly higher than in the general population, with a different distribution according to karyotype. Hyperopia was recorded more often at the 45,X karyotype, namely 28 %, while for chromosomal mosaicism it was only in 18%. For myopia the ratio was reversed — chromosomal mosaicism in 31% and in 45,X karyotype in 26 %.In total, while comparing individual eye defects incidence in 45,X karyotype and chromosomal mosaicism, similar findings were recorded. These results were also assessed with the help of statistics.

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Haemophilia A in a Female Patient with Turner Syndrome

Haematology Journal of Bangladesh ◽

10.37545/haematoljbd20178 ◽

2019 ◽

Vol 1 (01) ◽

pp. 26-27

Author(s):

Salma Afrose

Keyword(s):

Family History ◽

Turner Syndrome ◽

Haemophilia A ◽

Bleeding Tendency ◽

Factor Viii Activity ◽

Sexual Character ◽

Negative Family History ◽

Primary Amenorrhoea ◽

First Case ◽

History Of

A 28-year-old female presented with occasional swelling of knees and prolonged bleeding after trauma. She also complained of gum bleeding in few occasions. She also gave history of primary amenorrhoea and failure of development of secondary sexual character. There was negative family history of bleeding tendency in both maternal and paternal family. Her investigation profile showed prolonged Partial Thromboplastin Time and reduced factor VIII activity (2.5%). Karyotyping showed (45 XO) Turner syndrome. This is the reported first case of association of Turner syndrome with moderate Haemophilia A in Bangladesh.

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Turner Syndrome and Sex Chromosomal Mosaicism

Advances in the Study of Genetic Disorders ◽

10.5772/17809 ◽

2011 ◽

Cited By ~ 1

Author(s):

Eduardo Pasaro ◽

Rosa Ma Fernandez Garci

Keyword(s):

Turner Syndrome ◽

Chromosomal Mosaicism

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Prenatal Diagnosis of a Fetus with Congenital Heart Defect and Ring Chromosome 14

Case Reports in Genetics ◽

10.1155/2012/794075 ◽

2012 ◽

Vol 2012 ◽

pp. 1-4

Author(s):

Javier Sánchez ◽

Lutgardo García-Díaz ◽

David Chinchón ◽

Guillermo Antiñolo

Keyword(s):

Prenatal Diagnosis ◽

Cell Line ◽

Ring Chromosome ◽

Chromosomal Mosaicism ◽

Chromosome 14 ◽

Igh Locus ◽

First Case ◽

A Cell ◽

Insight Into ◽

Facial Dysmorphia

Monosomy of chromosome 14 has been reported in only a few prenatal cases. Generally, this monosomy is associated with a mosaicism of ring chromosome 14. Ring chromosome 14 is a rare cytogenetic entity with clinical characteristics that include growth retardation, facial dysmorphia, hypotonia, seizures, and retinitis pigmentosa. Given that the majority of symptoms appear postnatally, few cases have been reported of prenatal diagnosis of mosaicism monosomy/ring chromosome 14. We describe the prenatal diagnosis of a case of chromosomal mosaicism, a cell line with ring chromosome 14, r(14), and a second cell line with monosomy 14, in a fetus with aortic coarctation and chamber asymmetry. This is the first case of a prenatal diagnosis associating mosaicism with ring chromosome 14, monosomy 14, and fetal cardiopathy. We identified the exact breakpoint in ring chromosome 14 in IGH locus, which may provide further insight into the mode of ring formation as well as prenatal findings.

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Left Ventricular Noncompaction in a Child with Turner Syndrome

Case Reports in Pediatrics ◽

10.1155/2019/6824321 ◽

2019 ◽

Vol 2019 ◽

pp. 1-3

Author(s):

Snigdha Bhatia ◽

Amna Qasim ◽

Murad Almasri ◽

Luba Frank ◽

Ashraf M. Aly

Keyword(s):

Turner Syndrome ◽

Coarctation Of The Aorta ◽

Left Ventricular ◽

Left Ventricular Noncompaction ◽

Resonance Imaging ◽

Rare Form ◽

Ventricular Noncompaction ◽

First Case ◽

Syndrome Diagnosis ◽

Cardiac Evaluation

Congenital heart disease (CHD) may cause a significant comorbidity in patients with Turner syndrome. The commonly reported CHD in these patients includes bicuspid aortic valve and coarctation of the aorta. Left ventricular noncompaction (LVNC) is a rare form of cardiomyopathy that has been reported in literature only three times in adult patients with Turner syndrome. We report the first case of a 6-year-old asymptomatic female with Turner syndrome who was referred for cardiac evaluation after her Turner syndrome diagnosis. Echocardiogram was suspicious for LVNC, which was confirmed on cardiac magnetic resonance imaging.

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Cytogenetic and genomic analysis of a patient with turner syndrome and t(2;12): a case report

Molecular Cytogenetics ◽

10.1186/s13039-020-00515-0 ◽

2020 ◽

Vol 13 (1) ◽

Author(s):

Paola E. Leone ◽

Verónica Yumiceba ◽

Ariana Jijón-Vergara ◽

Andy Pérez-Villa ◽

Isaac Armendáriz-Castillo ◽

...

Keyword(s):

Case Report ◽

Turner Syndrome ◽

Clinical Features ◽

X Chromosome ◽

Genetic Disorder ◽

Genomic Analysis ◽

Common Finding ◽

Mild Intellectual Disability ◽

First Case ◽

Conventional Cytogenetics

Abstract Background Turner syndrome is a genetic disorder that affects women. It is caused by an absent or incomplete X chromosome, which can be presented in mosaicism or not. There are 12 cases of Turner syndrome patients who present structural alterations in autosomal chromosomes. Case presentation The present case report describes a patient with a reciprocal, maternally inherited translocation between chromosomes 2 and 12 with a mosaicism of X monosomy 45,X,t(2;12)(p13;q24)[95]/46,XX,t(2;12)(p13;q24)[5]. Through genetic mapping arrays, altered genes in the patient were determined within the 23 chromosome pairs. These genes were associated with the patient’s clinical features using a bioinformatics tool. Conclusion To our knowledge, this is the first case in which a translocation (2;12) is reported in a patient with Turner syndrome and confirmed by conventional cytogenetics, FISH and molecular genetics. Clinical features of our patient are closely related with the loss of one X chromosome, however mild intellectual disability can be likely explained by autosomal genes. The presence of familial translocations was a common finding, thus emphasizing the need for familiar testing for further genetic counselling.

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Combination of Gonadal Dysgenesis and Monosomy X with a Novo Translocation (13,14)

Case Reports in Endocrinology ◽

10.1155/2018/3796415 ◽

2018 ◽

Vol 2018 ◽

pp. 1-3 ◽

Cited By ~ 1

Author(s):

Hanane Latrech ◽

Houssein Madar ◽

Ahmed Gaouzi

Keyword(s):

Turner Syndrome ◽

Clinical Features ◽

X Chromosome ◽

Gonadal Dysgenesis ◽

Clinical Presentation ◽

Sex Chromosome ◽

De Novo ◽

First Case ◽

Chromosome Disorder ◽

De Novo Translocation

Turner syndrome is a common sex chromosome disorder characterized by complete or partial absence of an X chromosome. The spectrum of its clinical features and cytogenetics are various. We report new chromosomal formula revealed by DSD and associated with translocation (13,14). To our knowledge, this is the first case of 45X, t(13;14) de novo translocation as a variation of Turner syndrome in a patient with this clinical presentation.

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Coexistence of Growth Hormone Deficiency and Pituitary Microadenoma in a Child with Unique Mosaic Turner Syndrome: A Case Report and Literature Review

Diagnostics ◽

10.3390/diagnostics10100783 ◽

2020 ◽

Vol 10 (10) ◽

pp. 783

Author(s):

Eu Gene Park ◽

Eun-Jung Kim ◽

Eun-Jee Kim ◽

Hyun-Young Kim ◽

Sun-Hee Kim ◽

...

Keyword(s):

Growth Hormone ◽

Pituitary Adenoma ◽

Literature Review ◽

Short Stature ◽

Turner Syndrome ◽

Gh Deficiency ◽

Genetic Disorder ◽

Hormone Deficiency ◽

Pituitary Microadenoma ◽

First Case

Turner syndrome (TS) is a genetic disorder with phenotypic heterogeneity caused by the monosomy or structural abnormalities of the X chromosome, and it has a prevalence of about 1/2500 females live birth. The variable clinical features of TS include short stature, gonadal failure, and skeletal dysplasia. The association with growth hormone (GH) deficiency or other hypopituitarism in TS is extremely rare, with only a few case reports published in the literature. Here, we report the first case of a patient with mosaic TS with complete GH deficiency and pituitary microadenoma, and we include the literature review. During the work-up of the patient for severe short stature, three GH provocation tests revealed peak GH levels of less than 5 ng/mL, which was compatible with complete GH deficiency. Sella magnetic resonance imaging showed an 8 mm non-enhancing pituitary adenoma with mild superior displacement of the optic chiasm. Karyotyping revealed the presence of ring chromosome X and monosomy X (46,X,r(X)/45,X/46,X,psu dic r(X;X)), which indicated a mosaic TS. It is important to consider not only chromosome analyses in females with short stature, but also the possibility of the coexistence of complete GH deficiency accompanying pituitary lesions in TS. In conclusion, the present study reports the first case of GH deficiency and pituitary adenoma in a patient with rare mosaic TS, which extends the genotype–phenotype spectrum for TS.

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Dysgerminoma with a Somatic Exon 17 KIT Mutation and SHH Pathway Activation in a Girl with Turner Syndrome

Diagnostics ◽

10.3390/diagnostics10121067 ◽

2020 ◽

Vol 10 (12) ◽

pp. 1067

Author(s):

Ada Gawrychowska ◽

Ewa Iżycka-Świeszewska ◽

Beata S. Lipska-Ziętkiewicz ◽

Dominika Kuleszo ◽

Joanna Bautembach-Minkowska ◽

...

Keyword(s):

Turner Syndrome ◽

Sonic Hedgehog ◽

Neoplastic Tissue ◽

Kit Mutation ◽

Shh Pathway ◽

Oncogenic Pathway ◽

First Case ◽

Pathway Activation ◽

Kit Gene ◽

Ovarian Dysgerminoma

This article reports a case of a 7-year-old girl with Turner syndrome, treated with growth hormone (GH), who developed ovarian dysgerminoma. The patient karyotype was mosaic for chromosome Xq deletion: 46,X,del(X)(q22)/45,X. No Y chromosome sequences were present. Molecular studies revealed the presence of a driving mutation in exon 17 of the KIT gene in the neoplastic tissue, as well as Sonic-hedgehog (SHH) pathway activation at the protein level. The patient responded well to chemotherapy and remained in complete remission. This is the first case of dysgerminoma in a Turner syndrome patient with such oncogenic pathway.

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