Ahzad Hadi Ahmad2,3, Rabiatul Basria S.M.N. Mydin1, Nur Ain Nisrina Roan1,4, Abdul Rahman Azhari2, Narazah Mohd Yusoff2

@#A 31-year-old lady with normal physical characteristics was found to have persistent high FSH and LH and was suspected possible premature ovarian failure after reported to have not normal menstrual cycle. Leucocytes were collected from patient’s fresh peripheral blood sample and Giemsa banding (G-banding) was done. All metaphases were captured and analysed using Cytovision software 4.5 and the final analysis show 47,XXX

Triple X Egyptian woman and a Down's syndrome offspring.

The 47, XXX karyotype (triple X) has a frequency of 1 in 1000 female newborns. However, this karyotype is not usually suspected at birth or childhood. Female patients with a sex chromosome abnormality may be fertile. In patients with a 47, XXX cell line there appears to be an increased risk of a cytogenetically abnormal child but the extent of this risk cannot yet be determined; it is probably lower in the non-mosaic 47, XXX patient than the mosaic 46, XX/47, XXX one. We describe a new rare case of triple X woman and a Down's syndrome offspring. The patient is 26 years of age. She is a housewife, her height is 160 cm and weight is 68 kg and her physical features and mentality are normal. She has had one pregnancy at the age of 25 years resulted in a girl with Down's syndrome. The child had 47 chromosomes with trisomy 21 (47, XX, +21) Figure 1. The patient also has 47 chromosomes with a triple X karyotype (47, XX, +X) Figure 2. The patient's husband (27 years old) is physically and mentally normal. He has 46 chromosomes with a normal XY karyotype (46, XY). There are neither Consanguinity between her parent's nor she and her husband.

Variabilidad fenotípica en pacientes 47, XXX: presentación de cuatro casos nuevos / Phenotypic variability in 47, XXX patients: clinical report of four new cases

El síndrome 47, XXX se debe a un cromosoma extra del par sexual; su incidencia es de 1 en 1000 recién nacidas vivas. Sin embargo, este síndrome no suele sospecharse al nacimiento ni en la infancia. Muchas de estas pacientes son diagnosticadas durante la edad adulta por falla ovárica precoz o esterilidad, debido a la falta de características clínicas específicas .Este trabajo describe cuatro casos de pacientes 47, XXX y su variabilidad fenotípica.

The 47, XXX karyotype has a frequency of 1 in 1000 female newborns. However, this karyotype is not usually suspected at birth or childhood. These patients are usually diagnosed duringadulthood when they develop premature ovarian failure or infertility, because the early phenotype doesn't have anyspecific features. The study describes four cases and the clinical variability of the 47, XXX karyotype.

A Case of Chorioretinal Coloboma in Triple X Syndrome

PURPOSE: To report the case of a child with triple X syndrome presenting with exotropia and chorioretinal coloboma. CASE SUMMARY: A one-year-old female infant presented with 35PD exotropia in the primary position. The patient had poor fixation of the right eye, and a fundus examination showed chorioretinal coloboma in the inferior region of her right eye. The patient also exhibited syndactyly of the right hand. Brain magnetic resonance imaging revealed a well-defined 2 cm cyst in the right cerebellum. Upon chromosomal study, the patient's karyotype was found to be 47, XXX. CONCLUSIONS: When infants or children present with ophthalmologic findings such as strabismus and coloboma, systemic conditions and congenital problems should be considered.

A Case of Systemic Scleroderma in Triple X Syndrome / 대한류마티스학회지

Systemic scleroderma is a collagen-vascular disease of unknown etiology. Although the pathogenesis is poorly understood, disease progression involves the vasculature, the immune system and extracellular matrix deposition. systemic scleroderma occurs 3~8 times more frequently in women than men and pathogenesis of systemic scleroderma may be related to female X chromosome. but the role of X chromosome in autoimmunity has not been illustrated yet. Most recently reports, the disturbances in X chromosome and inactivation of X chromosome may be the cause of autoimmunity in abnormal sex chromosome syndrome. Also autoimmune diseases such as systemic scleroderma is increased in Turner's syndrome. the author had experienced a woman with systemic scleroderma who had been diagnosed to triple X syndrome due to infertility in the past. which was very rare case and not reported yet. So the author report a case of systemic scleroderma with triple X syndrome with literature review.

Obsessive-compulsive Disorder in a Patient with 47,XXX, Triple X Syndrome / 신경정신의학

Triple X syndrome is a relatively rare sex chromosomal anomaly, and its association with psychopathology is not well understood. The authors report one case of obsessive-compulsive disorder(OCD)with karyotype-confirmed triple X syndrome, 47,XXX. She had incomplete sexual development, seconddary amenorrhea and multiple obsessive-compulsive symptoms. Magnetic resonance imaging of the brain revealed left occipital white matter hyperintensity lesion. The patient's multiple obsessive-compulsive symptoms were responded partially with fluoxetine and adjunctive buspirone treatment, however, her overall psychological functions were much improved. With the literature reviews, the authors suggest the possibility that a certain type of sex chromosome aneuploidy might be susceptible to obsessive-compulsive spectrum disorders(OCSDs)or OCD.

A Case of Triple X Syndrome

Since Jacob and associates in 1959 were the first to report a case of triple X syndrome associated with ovarian failure, the incidence of trisomy X in newborn population is estimated to be 1 in 1,000 live born female. Most of them have normal physical appearance and puberty. We report a case of a newborn with triple X syndrome confirmed by chromosomal study whose clinical features included left preauricular pit, broad nose, thin lip, anogenital anomaly. Echocardiography showed atrial septal defect and ventricular septal defect.