A boy with true hermaphroditism and sex chromosome mosaicism and a fertile woman with Turner mosaicism in a family with a translocation 8p:19p

Annerén, Göran; Frykberg, T.; Gustavson, Karl‐Henrik

doi:10.1111/j.1399-0004.1981.tb01035.x

Cited by 3 publications

(4 citation statements)

References 8 publications

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“…),t(1;22)(q32;q21) and t(8:19) (p21:p13), and no other family member was affected by sex chromosome abnormalities in two reports [9,10]. However, a boy with true hermaphroditism and 46,XX/46,XY mosaicism formed part of the family reported by Anneren et al [8]. …”

Section: Discussionmentioning

confidence: 99%

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Turner Syndrome with Isochromosome Xq and Familial Reciprocal Translocation t(4;16)(p15.2;p13.1)

Çetin

Mendilcioğlu²,

Yakut³

et al. 2011

Balkan Journal of Medical Genetics

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We present here a 16-year-old Turner syndrome patient with a complex karyotype that includes a maternally-inherited balanced translocation between chromosomes 4 and 16 and mosaicism of the isochromosome Xq10. Her karyotype was 45,X,t(4;16) (p15.2;p13.1)[9]/46,X,i(X) (q10),t(4;16)(p15.2;p13.1) [91]. The karyotype of her father was normal, whereas that of her mother had the same balanced translocation and numerical abnormalities of chromosome X and was designated as 45,X,t(4;16)(p15.2;p13.1) [2]/46,XX,t(4;16)(p15.2;p13.1)[93]/47,XXX,t(4;16) (p15.2; p13.1)[5]. The two siblings of the patient also had the same reciprocal translocation. We consider this to be the first such patient with an inherited reciprocal translocation and structural abnormality of the X chromosome (isochromosome Xq).

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Section: Discussionmentioning

confidence: 99%

“…No other family members carried the translocation and sex chromosomal abnormality in these reports. There are three Turner syndrome patients with a familial balanced reciprocal translocation and monosomy of the X chromosome in the literature [8–10]. In these reports, the reciprocal translocations were t(2;22)(q?;q?…”

Section: Discussionmentioning

confidence: 99%

Turner Syndrome with Isochromosome Xq and Familial Reciprocal Translocation t(4;16)(p15.2;p13.1)

Çetin

Mendilcioğlu²,

Yakut³

et al. 2011

Balkan Journal of Medical Genetics

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“…Normal fertility in women with 45,X could be explained by the presence of an additional normal cell line in their gonads or the absence of gonadal mosaicism. Annerén et al [18] reported that an elder mosaic Turner's syndrome woman, with a familial reciprocal translocation detected in lymphocytes and fibroblast, delivered 3 normally developed children and had not prior history of abortion. The latter cases showed family planning genetic counselling should be performed in a case-by-case basis.…”

Section: Discussionmentioning

confidence: 99%

“…The coexistence of autosomal translocations and structural/numerical abnormalities of the X chromosome are a rarely reported, there are 12 cases published [9][10][11][12][13][14][15][16][17][18][19][20]. Here we describe a mosaic Turner syndrome patient with a maternally inherited reciprocal translocation with breakpoints at 2p13 and 12q24.…”

Section: Open Accessmentioning

confidence: 99%

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

et al. 2020

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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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True hermaphroditism: Geographical distribution, clinical findings, chromosomes and gonadal histology

Krob¹,

Braun²,

Kuhnle³

1994

Eur J Pediatr

210

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We reviewed 283 cases of human true hermaphroditism published from 1980 to 1992. Of the 96 cases described in Africa 96.9% showed a 46,XX karyotype. In Europe 40.5% of 74 cases and 21.0% of the patients in North America had chromosomal mosaicism. The 46,XY karyotype is extremely rare (7%) and equally distributed through Asia, Europe and North America. Of 283 cases 87 were of black or black mixed origin with a 46,XX chromosomal constellation. The most common gonad in patients with true hermaphroditism, an ovotestis, was found in 44.4% of 568 gonads. Gonads with testicular tissue were more frequent on the right side of the body, while pure ovarian tissue was more common on the left. Histologically the testicular tissue was described to be immature and only twice was spermatogenesis reported while the ovarian portion often appeared normal. This coincides with 21 pregnancies reported in ten true hermaphrodites while only one true hermaphrodite apparently has fathered a child. Of the patients 4.6% were reported to have gonadal tumours. Position and type of the genital ducts, frequency of clinical findings such as genital abnormalities and gynaecomastia, correlations between assigned sex and karyotype as well as the age at diagnosis are reported.

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A boy with true hermaphroditism and sex chromosome mosaicism and a fertile woman with Turner mosaicism in a family with a translocation 8p:19p

Cited by 3 publications

References 8 publications

Turner Syndrome with Isochromosome Xq and Familial Reciprocal Translocation t(4;16)(p15.2;p13.1)

Turner Syndrome with Isochromosome Xq and Familial Reciprocal Translocation t(4;16)(p15.2;p13.1)

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

True hermaphroditism: Geographical distribution, clinical findings, chromosomes and gonadal histology

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