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

Franceschini, P; Guala, Andrea; Camerano, Patrizia; Franceschini, D.; Vardeu, M. P.; Signorile, F.

doi:10.1002/(sici)1096-8628(19960301)62:1<26::aid-ajmg6>3.3.co;2-o

Cited by 7 publications

(11 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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“…Most of cases consist of monosomy X and trisomy 21 [Harada et al, 1998]. Only six cases involving monosomy X and trisomy 18 have been reported so far [Schinzel et al, 1974; Serville et al, 1977; Franceschini et al, 1996; Genuardi et al, 1999; Schubert et al, 2002; Lorda‐Sanchez et al, 2003]. Little is known about patient phenotype, evolution, and mechanisms leading to this double aneuploidy.…”

Section: To the Editormentioning

confidence: 99%

Unexpected diagnosis of 45,X/47,XX,+18 mosaicism in a girl with mild phenotype

Schluth-Bolard

Sanlaville

Labalme

et al. 2009

American J of Med Genetics Pt A

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Constitutional mosaicism for two distinct chromosome aneuploidies is a rare cytogenetic abnormality. Most of cases consist of monosomy X and trisomy 21 [Harada et al., 1998]. Only six cases involving monosomy X and trisomy 18 have been reported so far [Schinzel et al., 1974;Serville et al., 1977;Franceschini et al., 1996;Genuardi et al., 1999;Schubert et al., 2002;Lorda-Sanchez et al., 2003]. Little is known about patient phenotype, evolution, and mechanisms leading to this double aneuploidy. We report here on a new case of monosomy X/trisomy 18 mosaicism unexpectedly diagnosed in a girl with mild phenotype.The proposita is the second child of a 29-year-old mother and a 34-year-old father. There was a reported history of lipomas in the maternal family, namely in the mother, the grandmother, and the great-grandmother. The pregnancy was uneventful. The girl was born at 40.5 weeks with a weight of 2,855 g (25th centile), a length of 48 cm (5th centile), and an occipito-frontal circumference (OFC) of 33 cm (10th centile). Apgar scores were 8 and 10 at 1 and 5 min. A single umbilical artery was noticed. At 12 months, she was referred to the clinical genetics service for a nuchal mass that appeared at 5 months of age and was compatible with the diagnosis of lipoma. Clinical examination showed normal length (73 cm, 50th centile) and head circumference (45 cm, 35th centile). Facial dysmorphism was mild and consisted of hypertelorism, large tip of nose, short philtrum, narrow palpebral fissures, and dysplastic ears with a pointed helix (Fig. 1). Psychomotor milestones were normal for age. The patient walked at 13 months. Cardiac, abdominal, and pelvic echography were secondarily performed because of the chromosomal constitution and revealed a biscuspid aorta valve, pelvic left kidney, and absence of ovaries. The nuchal mass was examined again at 13 months. It appeared as a hypervascular mass with hypodermal lesion typical of an immature sub-cutaneous angioma in the right part of the neck. This was confirmed by an echography.Patient's blood karyotype (RHG bands) was performed considering very rare descriptions of constitutional anomalies of chromosome 12 associated with lipomas [Ligon et al., 2005]. It unexpectedly showed trisomy 18 in all 16 metaphases studied: 47,XX,þ18. This result was confirmed on an independent second blood sample (17 mitoses). As the phenotype of the proband was not suggestive of classical trisomy 18, a skin biopsy was performed in order to check for the presence of a mosaic. A first fibroblast culture (cell line 1, passage no. 2 CRB-HCL-CBC Biobank) showed the presence of monosomy X with two normal chromosomes 18 in each cell (16 mitoses). A second fibroblast sample (cell line 1, passage no. 4 CRB-HCL-CBC Biobank) revealed a mosaic pattern including 45,X cells (14/16 mitoses) and trisomy 18 (47,XX,þ18) cells (2/16 mitoses). In order to estimate the proportion of the different populations, FISH analyses using commercial centromeric

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“…We report on a case of a prenatally diagnosed constitutional mosaicim for trisomy 18 and monsomy X, associated with a very mild phenotype. Review of the literature cites seven previous cases, [Schinzel et al, 1974; Serville et al, 1977; Franceschini et al, 1996; Genuardi et al, 1999; Schubert et al, 2002; Lorda‐Sanchez et al, 2003; Picone et al, 2006] however, only two were diagnosed prenatally [Schubert et al, 2002; Picone et al, 2006]. Both prenatally diagnosed cases were terminated due to severe congenital anomalies.…”

Section: To the Editormentioning

confidence: 99%

“…The difficulty lay in not being able to predict outcome with the amniocentesis results. The limited literature available indicates that children with this type of mosaicism usually have a combination of features found in Trisomy 18 and Turner syndrome [Schinzel et al, 1974; Serville et al, 1977; Franceschini et al, 1996; Genuardi et al, 1999; Schubert et al, 2002; Lorda‐Sanchez et al, 2003; Picone et al, 2006]. The cases with mild or no mental retardation usually have more of a Turner syndrome phenotype.…”

Section: To the Editormentioning

confidence: 99%

Mild clinical presentation in a child with prenatally diagnosed 45,X/47,XX,+18 mosaicism

Tyler

Rice²,

Grady

et al. 2009

American J of Med Genetics Pt A

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

Cited by 7 publications

References 5 publications

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)

Unexpected diagnosis of 45,X/47,XX,+18 mosaicism in a girl with mild phenotype

Mild clinical presentation in a child with prenatally diagnosed 45,X/47,XX,+18 mosaicism

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