X-autosome translocations in amenorrhoea: a report of a three way translocation from Indian Population

Shetty, Dhanlaxmi; Kadam, Akshay P.; Koppaka, Neeraja; Dalvi, Rupa; Chavan, Deepak; Das, Bibu R.; Mandava, Swarna

doi:10.3109/09513590.2013.876000

Cited by 4 publications

(2 citation statements)

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“…Studies have revealed that patients with primary amenorrhea have male chromosome components [karyotype, 46, XY] but feminine phenotypes (Swyer syndrome) such chromosomal abnormalities are related with sex transformation, also some time the anomalies are related to X chromosomes, several forms of primary amenorrhea such as 47/XXX and 45/XO [13,14].…”

Section: Introductionmentioning

confidence: 99%

Chromosomal and Hormonal Analysis of Women with Primary Amenorrhea in Iraq

Sabbah,

Al-Sammarraie,

Alrawi

2024

Iraqi Journal of Science

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Primary amenorrhea is one of common gynecological diseases among adolescent girls in community which is characterized by absence of menstrual cycles and normal sexual characteristics. Chromosomal abnormalities and hormonal disturbance play a crucial role in developing this disease. However, due to social stigma, many people with sex-related abnormalities even in certain provincial regions of Iraq do not ask for medical help resulting in an unclear true incidence of sex abnormalities among amenorrhea patients. Thirty-four patients were referred to Genetic Consultation Clinic in the Medical city of Baghdad to determine the possible causes of primary amenorrhea. Ultrasound findings of the current study revealed that 5 (14.72%) patients had normal internal genital organs, 18 (52.94%) patients had hypoplastic uterus and ovaries, 4 (11.76%) patients had infantile uterus, 3 (8.82) patients suffered from rudimentary organs, and 4 (11.76%) patients had no visualized organs (absent). There was a substantial increase in the serum levels of hormones in the patients’ group (p-value <0.05) particularly follicle stimulating hormone (FSH) and luteinizing hormone (LH), when compared to the control group.Results also revealed that 26 patients had normal karyotype, 4 patients had Turner syndrome (TS) (45, XO, mosaic 45, XO/ 46XX, 46,XX/isoXq , 46 XO, ring Xq), two cases had (46, XX/isoXq and 46 xx, t (15q; 11q)), one case had 46 xx, t (1p;13q), and one case had 46 xx, t (1p;13q). It can be said in the end that each of these clinical examinations was crucial for making a correct diagnosis of the patient's condition and for identifying the important causes of primary amenorrhea in female patients from Iraq.

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Section: Introductionmentioning

confidence: 99%

Chromosomal and Hormonal Analysis of Women with Primary Amenorrhea in Iraq

Sabbah,

Al-Sammarraie,

Alrawi

2024

Iraqi Journal of Science

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“…Female patients with this abnormality may present late in life with amenorrhea or delayed puberty. Early presentation was also reported in males and females with variable syndromes, including multiple congenital anomalies, mental retardation, or failure to thrive according to the breakpoints in the X chromosome and the autosome [Sugio et al, 1998;Tzschach et al, 2006;Shetty et al, 2014].…”

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confidence: 99%

Unbalanced 14;X Translocation and Pattern of X Inactivation in a Female Patient with Multiple Congenital Anomalies

Mohamed¹,

Zaki²,

Kamel³

et al. 2018

Cytogenet Genome Res

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We report on a female patient who was first evaluated at the age of 6 years with developmental delay, dysmorphic facial features, seizures, and autistic behavior. A brain CT showed complete agenesis of the corpus callosum, and EEG recorded bilateral epileptogenic foci. Karyotype analysis revealed 45,X,psu dic(14;X)(p11;p22). FISH using 14q and Xp subtelomeric probes, combined with a SHOX gene-specific probe, and centromere X and XIST gene analysis revealed ish psu dic(14;X)(D14S1420+; DXYS129-, SHOX-, DXZ1+, XIST+). Array CGH detected a 2-Mb loss at Xp22.33 and a 4.6-Mb gain at Xp22.2p22.12. The deletion contains 34 genes, of which CSF2RA and SHOX are OMIM morbid genes. The duplication also contains some OMIM morbid genes, of which CDKL5, NH5, RPS6KA3, and AP1S2 are the most important. The late replicating chromatin technique was used to detect the pattern of X inactivation in the normal X and in the translocated chromosome. The translocated X was found to be inactive in 70% of the studied blood lymphocytes with patchy extension of inactivation to chromosome 14. In conclusion, the phenotype of the patient may be partially affected by the haploinsufficiency of the genes that are known to escape X inactivation and that lie within the deleted region and by other deleted or duplicated genes on the abnormal X chromosome due to an alternative pattern of X inactivation. The phenotype of the patient was significantly aggravated and complicated by the functional monosomy of some genes on chromosome 14 due to partial spreading of inactivation and silencing of those genes. This case report indicates the importance of structural and functional studies and emphasizes the clinical importance of the follow-up of abnormal microarrays.

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