Turner Syndrome With Isochromosome Structural Abnormalities: A Case Report.

Turner syndrome (TS) is the most common cause of short stature and delayed puberty in females. Approximately half of the patients have the classic form with a genotype of 45,XO, one-fourth of patients have different mosaic forms, and the remaining one-fourth have structural abnormalities on the X chromosome. Among the structural abnormalities, the most common is isochromosome Xq. Females with structural variants of TS can present with delayed menarche, amenorrhea, and infertility rather than classic manifestations of TS. This study describes two rare variants of TS. One was a structural abnormality on the X chromosome, 46X,iso(Xq), and the other involves a mosaic variety of TS, including isochromosome X in the form of 45,XO/46X,iso(Xq). Both patients presented with short stature and secondary amenorrhea without classic manifestations of TS. In TS with or without mosaicism, the frequency of isochromosomes is reported to be about 15% to 18%. Owing to the absence of classical manifestations of TS, diagnosis may be delayed or missed. Therefore, females of short stature with secondary amenorrhea should be evaluated for rare variants of TS by chromosomal analysis.

Mosaic 45,X/46, XX at amniocentesis with high-level mosaicism for 45,X in a pregnancy with a favorable fetal outcome and postnatal decrease of the 45,X cell line.

OBJECTIVE: We present mosaic 45,X/46, XX at amniocentesis with high-level mosaicism for 45,X in a pregnancy with a favorable fetal outcome and postnatal decrease of the 45,X cell line. CASE REPORT: A 20-year-old, primigravid woman underwent amniocentesis at 17 weeks of gestation because of the non-invasive prenatal testing (NIPT) result of -4.82 Z score in sex chromosome at 12 weeks of gestation suggestive of Turner syndrome in the fetus. Amniocentesis revealed a karyotype of 45,X [18]/46,XX [15], and simultaneous multiplex ligation-dependent probe amplification (MLPA) on the DNA extracted from uncultured amniocytes showed mosaic Turner syndrome. Prenatal ultrasound and parental karyotypes were normal. She was referred for genetic counseling at 24 weeks of gestation, and continuing pregnancy was encouraged. At 39 weeks of gestation, a 2550-g phenotypically normal female baby was delivered. The karyotypes of cord blood, umbilical cord and placenta were 45,X [24]/46,XX [16], 45,X [23]/46,XX [17] and 45,X [28]/46,X,del(X) (q23)[12], respectively. When follow-up at age two months, the neonate was phenotypically normal in development. The peripheral blood had a karyotypes of 45,X [16]/46,XX [24]. Interphase fluorescence in situ hybridization (FISH) analysis on 103 buccal mucosal cells showed normal disomy X signals in all cells. CONCLUSION: High-level mosaicism for 45,X in 45,X/46, XX at amniocentesis can be associated with a favorable fetal outcome, cytogenetic discrepancy in various tissues, and postnatal decrease of the 45,X cell line.

Isochromosome Mosaic Turner Syndrome With Epilepsy and Developmental Abnormalities: A Case Report.

Turner syndrome (TS) is a genetic disorder resulting from the partial or complete absence of one X chromosome in females. This condition gives rise to a spectrum of physical and developmental characteristics. Isochromosome mosaic Turner syndrome (IMTS) is a distinct form of this disorder, characterized by genetically different cell lineages, where one or more of the lineages contain an isochromosome X consisting of either p or q arms. While IMTS is relatively common, the relationship between IMTS and epilepsy along with developmental abnormalities remains an area of further investigation. An eight-year-old female presented with a seizure lasting more than 10 minutes, subsequent bilateral hand weakness, and an abnormal gait. Neurologic evaluation revealed a 24-hour amplitude-integrated electroencephalogram (EEG) demonstrating generalized sharp and slow waves increased with hyperventilation and left-sided delta activity. Both the brain magnetic resonance imaging (MRI) and repeated EEG, conducted while the patient was sedated, showed normal results. The patient was diagnosed with generalized epilepsy with underlying left hemispheric dysfunction. Early medical history revealed acid reflux, heightened sensitivity or aversion to certain textures, swallowing difficulties, attention-deficit/hyperactivity disorder, extremity clumsiness, and a focal seizure one year prior. In the following months, the patient continued having generalized tonic-clonic seizures and developed bilateral muscle weakness in her arms and legs. This prompted genetic testing, which revealed a karyotype of 45,X,t(17;20)(q23;p13)/46,X,I(X)(q10),t(17;20)(q23;p13) consistent with IMTS and an additional chromosomal translocation. This rare case highlights the potential association between IMTS and the development of epilepsy, emphasizing the importance of a multidisciplinary approach in evaluating TS patients. There is a need for further research that explores the genetic link between TS variants and epilepsy, as well as other intellectual disorders.

A case of a 45,X,46,X+mar male phenotype mosaic Turner syndrome with a mixed gonadal germ cell tumor / Philippine Journal of Obstetrics and Gynecology

@#Turner syndrome is a congenital condition affecting 1 in every 2500 female live births. This condition is characterized by complete or partial loss of the X chromosome. They commonly present with normal female external and internal genitalia and may develop hypogonadism and streak ovaries later in life. We describe an unusual presentation of a case of Turner syndrome – a 31-year-old Filipino with male phenotype mosaic Turner syndrome, with 46,X,+mar[46]/45,X[4] chromosome, presenting with ambiguous genitalia and a pelvoabdominal mass. The patient underwent exploratory laparotomy, peritoneal fluid cytology, adhesiolysis, tumor debulking (gonadectomy) appendectomy, omentectomy, identification and inspection of bilateral ureters and bladder, gonioscopy and biopsy of the urogenital cavity (bladder vs. vagina). Histopathology revealed a mixed gonadal tumor, consisting of 70% yolk sac tumor, and 30% dysgerminoma. The patient eventually succumbed to postoperative complications. Postmortem fluorescence-in situ hybridization revealed a 46,X,+mar[46]/45,X,[4].ish der (Y) (DYZ3+), a marker of chromosome Y origin, consistent with a mosaic type Turner syndrome, associated with increased risk for gonadal malignancy.

Progressive increase of the mosaic level for 45,X in 45,X/46, XX at different amniocenteses and postnatal progressive decrease of the 45,X cell line in a mosaic 45,X/46, XX fetus with a favorable outcome.

OBJECTIVE: We present progressive increase of the mosaic level for 45,X in 45,X/46, XX at different amniocenteses and postnatal progressive decrease of the 45,X cell line in a mosaic 45,X/46, XX fetus with a favorable outcome. CASE REPORT: A 35-year-old, primigravid woman underwent amniocentesis at 16 weeks of gestation because of the advanced maternal age. Amniocentesis revealed a karyotype of 45,X [6]/46,XX [14]. Among 20 colonies of cultured amniocytes, six colonies had a karyotype of 45,X, whereas the other 14 colonies had a karyotype of 46,XX. Simultaneous array comparative genomic hybridization (aCGH) on uncultured amniocytes revealed the result of arr [GRCh37] (X) × 1 [0.42] (1-22) × 2. Prenatal ultrasound findings were unremarkable. Repeat amniocentesis at 33 weeks of gestation revealed a karyotype of 45,X [13]/46,XX [7]. Among 20 colonies of cultured amniocytes, 13 colonies had a karyotype of 45,X, whereas the other seven colonies had a karyotype of 46,XX. Simultaneous interphase fluorescence in situ hybridization (FISH) analysis on 100 uncultured amniocytes revealed that 44 cells had monosomy X consistent with 44% mosaicism for 45,X, whereas the rest cells had disomy X. At 38 weeks of gestation, a 2675-g phenotypically normal female baby was delivered. The karyotypes of cord blood, umbilical cord and placenta were 45,X [12]/46,XX [28], 45,X [12]/46,XX [28] and 46,XX [40/40], respectively. When follow-up at age three months, the neonate was normal in development. The karyotypes of peripheral blood was 45,X [4]/46,XX [36], and interphase FISH analysis on 100 buccal mucosal cells showed monosomy X in 11 cells consistent with 11% mosaicism for 45,X, whereas the rest cells had disomy X. CONCLUSION: Progressive increase of the mosaic level for 45,X in 45,X/46, XX at different amniocenteses can be associated with a favorable outcome and postnatal progressive decrease of the 45,X cell line.

High-level mosaicism for 45,X in 45,X/46,XX at amniocentesis in a pregnancy with a favorable outcome and postnatal progressive decrease of the 45,X cell line.

OBJECTIVE: We present prenatal diagnosis of high-level mosaicism for 45,X in 45,X/46,XX at amniocentesis in a pregnancy with a favorable outcome and postnatal progressive decrease of the 45,X cell line. CASE REPORT: A 32-year-old, gravida 2, para 1, woman underwent amniocentesis at 17 weeks of gestation because of the abnormal first-trimester maternal serum screening result indicating a 1/34 risk for Down syndrome. Amniocentesis revealed a karyotype of 45,X[27]/46,XX[15]. Simultaneous array comparative genomic hybridization (aCGH) on uncultured amniocytes revealed 12% mosaicism for monosomy X. Prenatal ultrasound was normal. The pregnancy was carried to term, and a 2780-g phenotypically normal female baby was delivered. The cord blood had a karyotype of 45,X[12]/46,XX[28]. At age one month, the peripheral blood had a karyotype of 45,X[13]/46,XX[27]. Interphase fluorescence in situ hybridization (FISH) analysis on the buccal mucosal cells revealed 2% (2/102 cells) mosaicism for monosomy X, compared with 1% (1/100 cells) in the normal control. When follow-up at age one year, she was doing well with normal physical and psychomotor development. Her body weight was 9.9 Kg (50th - 85th centile), and her body height was 75 cm (50th - 85th centile). The peripheral blood had a karyotype of 45,X[4]/46,XY[36]. CONCLUSION: High-level mosaicism for 45,X in 45,X/46,XX at amniocentesis can be associated with a favorable outcome and postnatal progressive decrease of the 45,X cell line.

Perinatal cytogenetic discrepancy in a pregnancy with mosaic 45,X/46, XY at amniocentesis and a favorable outcome.

OBJECTIVE: We present perinatal cytogenetic discrepancy in a pregnancy with mosaic 45,X/46, XY at amniocentesis and a favorable outcome. CASE REPORT: A 38-year-old, primigravid woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 45,X[2]/46,XY[6]. Level II ultrasound at 20 weeks of gestation was unremarkable, and the fetus had normal male external genitalia. Following genetic counseling, the woman decided to continue the pregnancy. At 39 weeks of gestation, a healthy male baby was delivered with a body weight of 3410 g and a body length of 54.5 cm. The male external genital organs were normal. The cord blood had a karyotype of 46, XY (40/40 cells). The umbilical cord had a karyotype of 45,X[1]/46,XY[39]. During follow-up at age one month, his body weight was 4.4 Kg (15th-50th centile), and his body length was 56 cm (50th-85th centile). The infant was doing well. Interphase fluorescence in situ hybridization analysis on 100 buccal mucosal cells revealed no abnormal Y-deletion cell, and all cells contained one Y signal. CONCLUSION: Perinatal cytogenetic discrepancy may occur in the pregnancy with mosaic 45,X/46, XY at amniocentesis.

Outcomes of Fertility Preservation Consults for Women at Risk for Primary Ovarian Insufficiency Due to History of Cancer Treatment or Mosaic Turner Syndrome.

Adolescents and young adults (AYAs) at risk of primary ovarian insufficiency (POI) often request fertility preservation consultation. We report consult/treatment outcomes for 21 cancer survivors and 3 mosaic Turner syndrome (TS) patients (mean age 21.6 at consult, 3 with POI). Ten AYAs (9 survivors, 1 mosaic TS) attempted ovarian stimulation; 4 cancelled for poor response. Of completed cycles, mean 3.8 mature oocytes were retrieved, with mean anti-Müllerian hormone 0.653 ng/mL. Ovarian stimulation for mosaic TS AYA and survivors is possible, even with diminished ovarian reserve. Further study is needed to establish guidelines for patient selection, treatment timing, and stimulation protocols.

Aortic root dilation in a child with Marfan syndrome and mosaic Turner syndrome.

Patients with a known genetic cause of aortic root dilation usually have a single underlying aetiology, either a single gene defect as in Marfan syndrome or chromosomal anomaly as in Turner syndrome. However, it is possible, although unlikely, for a patient to inherit multiple independent risk factors for aortic root dilation. We describe such a patient, who inherited Marfan syndrome and a very unusual form of mosaic Turner syndrome. Long-term follow-up of this patient may provide insight into the natural history of this unique genetic combination.

A rare case of an Isochromosome Mosaic Turner Syndrome

@#Turner syndrome is characterized by a complete or partial absence of one X chromosome. The most common karyotype is 45,X0. A variant of Turner syndrome is Isochromosome Mosaic Turner syndrome which presents with an abnormality of the chromosome structure. This is a case of a 22 year old female who presented with short neck, widely spaced nipples, low posterior hairline, absence of nose bridge, minimal axillary hair and underdeveloped breasts. Ultrasound examination showed an infantile uterus with small ovaries. Her karyotype showed an isochromosome of the long arm of the X chromosome and the remaining eight cells showed a loss of one X chromosome, resulting in monosomy X (ISCN: 46,X,i(X)(q10)[42]/45,X[8]). Hormonal evaluation showed a hypergonadotropic and hypogonadism state. Test results for auditory, ophthalmologic, cardiac and renal functions were all within normal limits. The patient was diagnosed with isochromosome mosaic Turner syndrome and started on hormonal therapy.

Upper limb hemimelia in a twin pregnancy which was obtained by an ICSI and PGD in a woman with mosaic Turner's syndrome and the prognosis.

Turner's syndrome (TS) is depicted as a total or partial absence of X chromosome, and occurs in approximately 1/2200 of live born females. Generally, mosaic patients are diagnosed following karyotype analysis due to recurrent pregnancy loss, repeated in vitro fertilization (IVF) failure, and a history of malformed babies. The purpose of this case report is to show that even a selection of normal karyotype embryos can result in abnormalities for those with mosaic TS. A 32-year old patient who underwent IVF after ICSI-PGD, and was diagnosed with 45X/46XX karyotype. At the 12-week scan, one of the fetuses had an upper limb hemimelia in one arm, and feticide was applied to that fetus. The patient delivered a healthy, 2980 g female baby at the thirty-eighth week. In mosaic TS pregnancies (even those obtained by ICSI-PGD), fetal anomaly risk is high. Therefore, careful prenatal scanning is needed for these pregnancies.

Moyamoya disease associated with asymptomatic mosaic Turner syndrome: a rare cause of hemorrhagic stroke.

Moyamoya disease is a rare cerebrovascular anomaly involving the intracranial carotid arteries that can present clinically with either ischemic or hemorrhagic disease. Moyamoya syndrome, indistinguishable from moyamoya disease at presentation, is associated with multiple clinical conditions including neurofibromatosis type 1, autoimmune disease, prior radiation therapy, Down syndrome, and Turner syndrome. We present the first reported case of an adult patient with previously unrecognized mosaic Turner syndrome with acute subarachnoid and intracerebral hemorrhage as the initial manifestation of moyamoya syndrome. A 52-year-old woman was admitted with a subarachnoid hemorrhage with associated flame-shaped intracerebral hemorrhage in the left frontal lobe. Physical examination revealed short stature, pectus excavatum, small fingers, micrognathia, and mild facial dysmorphism. Cerebral angiography showed features consistent with bilateral moyamoya disease, aberrant intrathoracic vessels, and an unruptured 4-mm right superior hypophyseal aneurysm. Genetic analysis confirmed a diagnosis of mosaic Turner syndrome. Our case report is the first documented presentation of adult moyamoya syndrome with subarachnoid and intracerebral hemorrhage as the initial presentation of mosaic Turner syndrome. It illustrates the utility of genetic evaluation in patients with cerebrovascular disease and dysmorphism.