45,X/47,XY,+ 13 Mosaicism and Crohn's Disease

Knudtzon, J; Ledaal, Pål; Middelthon-Moe, M.; Aarskog, Dagfinn

doi:10.1111/j.1651-2227.1988.tb10784.x

Cited by 14 publications

(8 citation statements)

References 5 publications

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“…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%

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: 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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“…Third case was an 8.5-year-old with a complaint of webbed neck, prominent ears, widely spaced nipples and all other features of Turner syndrome but no symptoms of Patau syndrome at all. The girl was suffering from Crohn's disease which is somewhat associated with Turner syndrome ( Knudtzon et al, 1988 ). Recently Tang et al, 2014 reported a case of 3-year-old female with very short height and weight below 5th centile.…”

Section: Discussionmentioning

confidence: 99%

A rare case of mosaic 45,X/47,XX,+13 in 28-year-old women with secondary amenorrhoea: A case report and literature review

et al. 2015

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In the present paper we report an extremely rare case of mosaicism of 45,X/47,XX,+13 in a 28-year-old women. The patient was referred for cytogenetic evaluation for secondary amenorrhoea. The patient was found to have some mild characteristic features of Turner syndrome such as wide carrying angle and short stature. Ultrasound examination revealed the presence of a small sized uterus and bilateral streak ovaries. G-banded chromosome analysis revealed a mosaic female karyotype involving two different cell lines. One cell line (72% of analysed metaphases) presented monosomy of X while the remaining 28% of cells showed trisomy of chromosome 13. Fluorescence in situ hybridization (FISH) with locus specific probe for trisomy 13 and CEP X for monosomy X substantiated the results obtained from karyotyping.

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“…Smith & Giacoia (1984) described a child with an IQ of "99-110" at age 1 year, although details of the mosaicism was not provided; given the concomitant physical abnormalities in this child, it would not be surprising if at longer-term follow-up intellectual deficit might, in fact, have become apparent. Knudtzon et al (1988) described an 8.5-year-old child presenting with short stature, several features of Turner syndrome and subsequently Crohn's disease, who had 45,X/47,XY, + 13 mosaicism (35% of cells trisomic) on blood karyotype, which had been undertaken because of features of Turner syndrome, and who was of normal intellect. Our cases 1 and 3 add to this small number of cases with an apparently unimpaired intellect.…”

Section: Discussionmentioning

confidence: 99%