Blaschkolinear malformation syndrome in complex trisomy-7 mosaicism

Magenis, Ellen; Webb, Mary Jane; Spears, Becky; Opitz, John M.

doi:10.1002/(sici)1096-8628(19991222)87:5<375::aid-ajmg2>3.0.co;2-w

Cited by 31 publications

(29 citation statements)

References 33 publications

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“…Clinical findings in these patients are summarized in Table II. Previously six patients with pigmentary mosaicism due to trisomy 7 mosaicism have been reported [Moss et al, 1993;Jenkins et al, 1993;Verghese et al, 1999;Magenis et al, 1999;Kayser et al, 2000;Kivirikko et al, 2002]. Fourteen additional patients with mosaic trisomy 7, but without abnormal pigmentation were reported (see Table III), including a mother and daughter [DeBault and Halmi, 1975;Hodes et al, 1981;Pflueger et al, 1984;Verp et al, 1987;Hsu et al, 1992Hsu et al, , 1997Kivirikko et al, 2002;Bilimoria and Rothenberg, 2003].…”

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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“…Other authors report mental retardation as well. Body asymmetry has been seen in several types of chromosomal mosaicism like mosaic trisomy 7, 4, 18 and 22 and is then often associated with skin pigmentation anomalies following the lines of Blaschko (Magenis et al, 1999;Chemke et al, 1983;Woods et al, 1994).…”

Section: Discussionmentioning

confidence: 99%

Mosaic trisomy 15 in a short girl with hemihypotrophy and mental retardation

Knauer-Fischer

Richter‐Unruh

Albrecht

et al. 2004

Clinical Dysmorphology

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We describe a girl with short stature, mild mental retardation, hemihypotrophy, atrial septal defect I, bilateral branchial cleft fistulas and abnormal skin pigmentation. Growth hormone deficiency and other frequent causes of short stature were excluded. Blood karyotype was investigated twice. In one sample an additional marker chromosome was found in one of 53 analysed metaphases, which could not be further characterized, whereas a second investigation showed a normal female karyotype. Cytogenetic studies in skin fibroblasts revealed a mosaic trisomy 15. Although mosaic trisomy 15 is a rare finding the diagnosis must be considered in the presence of pigmentary changes, body asymmetry, short stature and other minor dysmorphic signs even if blood karyotype is normal.

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“…1 All surviving children are mosaics with variable and nonspecific clinical features. 1 -5 Chromosomal mosaicism may be suggested by body asymmetry and/or Blaschkolinear skin pigmentary dysplasia associated with developmental delay.…”

Section: Introductionmentioning

confidence: 99%

Trisomy 7 mosaicism, maternal uniparental heterodisomy 7 and Hirschsprung's disease in a child with Silver–Russell syndrome

et al. 2005

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Prenatal trisomy 7 is usually a cell culture artifact in amniocytes with normal diploid karyotype at birth and normal fetal outcome. In the same way, true prenatal trisomy 7 mosaicism usually results in a normal child except when trisomic cells persist after birth or when trisomy rescue leads to maternal uniparental disomy, which is responsible for 5.5-7% of patients with Silver-Russell syndrome (SRS). We report here on the unusual association of SRS and Hirschsprung's disease (HSCR) in a patient with maternal uniparental heterodisomy 7 and trisomy 7 mosaicism in intestine and skin fibroblasts. HSCR may be fortuitous given its frequency, multifactorial inheritance and genetic heterogeneity. However, the presence of the trisomy 7 mosaicism in intestine as well as in skin fibroblasts suggests that SRS and HSCR might possibly be related. Such an association might result from either an increased dosage of a nonimprinted gene due to trisomy 7 mosaicism in skin fibroblasts (leading to SRS) and in intestine (leading to HSCR), or from an overexpression, through genomic imprinting, of maternally expressed imprinted allele(s) in skin fibroblasts and intestine or from a combination of trisomy 7 mosaicism and genomic imprinting. This report suggests that the SRS phenotype observed in maternal uniparental disomy 7 (mUPD(7)) patients might also result from an undetected low level of trisomy 7 mosaicism. In order to validate this hypothesis, we propose to perform a conventional and molecular cytogenetic analysis in different tissues every time mUPD (7) is displayed.

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Blaschkolinear malformation syndrome in complex trisomy-7 mosaicism

Cited by 31 publications

References 33 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)

Mosaic trisomy 15 in a short girl with hemihypotrophy and mental retardation

Trisomy 7 mosaicism, maternal uniparental heterodisomy 7 and Hirschsprung's disease in a child with Silver–Russell syndrome

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