Mosaic 45,X/47,XY,+18

Serville, F; Fontan, D; Laurent, C; Cazauran, J. M.; Verger, P

doi:10.1007/bf00446288

Cited by 16 publications

(19 citation statements)

References 1 publication

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“…It has been suggested that the presence of triple copies of the GLC1F, a primary open angle glaucoma locus, causes glaucoma [Kato et al, 2001]. Buphthalmos was also reported in a patient with a 45X/47,XY,þ18 karyotype, which shows that buphthalmos may also be associated with other autosomal trisomies [Serville et al, 1977].…”

Section: Discussionmentioning

confidence: 88%

“…The combination of monosomy X with [Cohen and Davidson, 1972;Schinzel et al, 1974;Hustinx et al, 1974;Prieur et al, 1972Prieur et al, , 1976Serville et al, 1977;Knudtzon et al, 1988;Eiben et al, 1989;Schofield et al, 1992;Franceschini et al, 1996;Mielke et al, 1997;Harada et al, 1998;Genuardi et al, 1999;Schubert et al, 2002;Cogulu et al, 2002], but the combination with trisomy 7 has not. Clinical findings in these patients are summarized in Table II.…”

Section: Discussionmentioning

confidence: 99%

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Pigmentary mosaicism following the lines of Blaschko in a girl with a double aneuploidy mosaicism: (47,XX,+7/45,X)

Niessen

Jonkman

Muis

et al. 2005

American J of Med Genetics Pt A

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We report on a 6-year-old girl with linear streaks of apparent hypopigmentation and hyperpigmentation following the Blaschko lines, growth retardation, bupthalmos of the left eye, and mild mental retardation. She had a 45,X karyotype in lymphocytes. In cultured fibroblasts a double aneuploidy mosaicism was detected, consisting of a cell line with trisomy for chromosome 7 and a cell line with monosomy for the X-chromosome and no cell line with a normal karyotype. Cutis tricolor or three levels of pigmentation in different skin areas suggested presence of a third, probably normal cell line. Double aneuploidy mosaicism of a cell line with monosomy X and a cell line with trisomy of an autosome is a rare finding. The combination of monosomy X with trisomy of chromosomes 8, 10, 13, 18, and 21 has been reported, but not the combination with trisomy 7. In the 45,X cell line, microsatellite analysis showed loss of the maternal X-chromosome, and presence of a maternal and paternal chromosome 7. The 47,XX,þ7 cell line showed a paternal and a maternal X-chromosome, and a paternal and two identical maternal chromosomes 7. Mechanisms that might explain this double aneuploidy mosaicism are discussed.

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Section: Discussionmentioning

confidence: 88%

Section: Discussionmentioning

confidence: 99%

Pigmentary mosaicism following the lines of Blaschko in a girl with a double aneuploidy mosaicism: (47,XX,+7/45,X)

Niessen

Jonkman

Muis

et al. 2005

American J of Med Genetics Pt A

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“…Serville et al [1977] reported on an 11-month-old girl with Ullrich-Turner phenotype, buphthalmos, and developmental delay. In the literature we could find only 2 other patients with a similar type of mosaicism.…”

Section: Discussionmentioning

confidence: 99%

Ullrich-Turner phenotype with unusual manifestation in a patient with mosaicism 45,X/47,XX,+18

et al. 1996

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We report on a girl with Ullrich‐Turner phenotype and 45,X/47,XX,+18 chromosomal mosaicism. Only two other patients with similar mosaicism have been reported, both girls with XY sex chromosome constitution. The face of the patient was highly asymmetric, the right side being almost normal, the left showing a typical Ullrich‐Turner syndrome appearance. This clinical impression was strengthened by photographic doubling of both hemifaces. The patient had normal intelligence and did not show any stigmata of trisomy 18. © 1996 Wiley‐Liss, Inc.

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“…Two of these were phenotypically female with 45,X/47,XY,+18 karyotype [10,11], while one described a phenotypical male with 45,X/47,XY,+18 [12]. The remaining three describe a 45,X/47,XX,+18 karyotype, 2 of which were phenotypically female [13,14], and one undetermined [15].…”

Section: Discussionmentioning

confidence: 99%

Early Bilateral Gonadoblastoma in a Young Child with Mosaicism for Turner Syndrome and Trisomy 18 with Y Chromosome

MacMahon

O’Sullivan²,

McDermott³

et al. 2016

Horm Res Paediatr

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Mosaic Turner syndrome (TSM) commonly occurs in the form of 45,X/46,XX and 45,X/46,X,i(X)(q10). Mosaicism for a Y chromosome, 45,X/46,XY, has been well documented and is associated with increased risk of gonadoblastoma (GB). To date, there are only six reported cases of TSM with a trisomy 18 karyotype, and only two of these were phenotypically female with 45,X/47,XY,+18 karyotype. We present the case of a phenotypically female infant born with dysmorphic features. G-banded karyotype and interphase FISH of blood showed 45,X in 95% and 47,XY,+18 (trisomy 18) in 5% of cells analysed. However, interphase FISH of buccal cells showed only the presence of the 45,X cell line. Due to the presence of Y chromosome material, elective gonadectomy was performed at 13 months of age. There were bilateral streak ovaries with early evidence of GB bilaterally, a rudimentary uterus and bilateral fallopian tubes with unilateral ectopic adrenal tissue identified histologically. Interphase FISH of the gonadal tissue was similar to the blood findings with 45,X in 86% of cells and 47,XY,+18 in 14% of cells analysed. This case highlights a rare karyotype of TSM and trisomy 18 in the same patient and is the first reporting the associated finding of bilateral GB.

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Mosaic 45,X/47,XY,+18

Cited by 16 publications

References 1 publication

Pigmentary mosaicism following the lines of Blaschko in a girl with a double aneuploidy mosaicism: (47,XX,+7/45,X)

Pigmentary mosaicism following the lines of Blaschko in a girl with a double aneuploidy mosaicism: (47,XX,+7/45,X)

Ullrich-Turner phenotype with unusual manifestation in a patient with mosaicism 45,X/47,XX,+18

Early Bilateral Gonadoblastoma in a Young Child with Mosaicism for Turner Syndrome and Trisomy 18 with Y Chromosome

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