Prenatally detected trisomy 7 mosaicism in a dysmorphic child

Kivirikko, Sirpa; Salonen, Riitta; Salo, Armi; Koskull, Harriet von

doi:10.1002/pd.348

Cited by 27 publications

(21 citation statements)

References 28 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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“…Later on, two other cases were reported. In the first case, 13 trisomy 7 was present in 7/9 colonies (77%) analysed from short amniocyte cultures but not in fetal blood. At the age of 3 years, the child showed asymmetric face, pigmentary changes of the skin, dysmorphic facial features and normal development.…”

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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“…At our own institution (BWH) over the last 20 years, of the 30 cases of trisomy 7 in fetal tissue (7 mosaic and 23 full trisomy), all were first-trimester spontaneous pregnancy losses. In the English literature, of 8 postnatally confirmed reported cases of trisomy 7, 2 have been reported to be completely normal at 4 and 4 1 2 years [1,2]. In these 2 cases the diagnosis was made in foreskin and the level of mosaicism was 18.2 and 48%, respectively.…”

Section: Discussionmentioning

confidence: 69%

“…In these 2 cases the diagnosis was made in foreskin and the level of mosaicism was 18.2 and 48%, respectively. The other 6 have shown various phenotypic abnormalities, including facial asymmetry (4/6), hypopigmentation of skin (4/6), low-set ears (4/6), abnormal genitalia (including undescended testes, (3/6), sparse hair (3/6), ptosis (3/6), enamel dysplasia (3/6), strabismus (2/6), pulmonary hypoplasia (2/6), renal dysplasia (2/6), hypotonia (2/6), epilepsy (1/6), bifid uvula (1/6), and developmental delay (1/6) [1]. In our case, findings that could potentially be associated with trisomy 7 mosaicism include unilaterally undescended testis, ectopic hair whorl, and nail hypoplasia.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

HOMOZYGOUS Α-Thalassemia WITH TRISOMY 7 MOSAICISM IN a LIVE-BORN INFANT

Quintero‐Rivera

Abreu-e-Lima

Zhang

et al. 2009

Pediatric Hematology & Oncology

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The authors report a male infant born at 35 weeks gestational age with an atypical presentation of homozygous alpha-thalassemia. The live-born infant displayed abnormalities of the upper limbs and genitalia, which are vascular-type disruptive defects associated with this disease. Cardiomegaly and placentomegaly were the only evidence of fetal hydrops. Postnatal karyotype revealed mosaicism for trisomy 7, yet another rare finding in a live-born. The authors discuss their institutional experience with each of these rare conditions and the potential contribution of each to the overall unusual clinical presentation in this patient. This is the first report of these simultaneous diagnoses.

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Prenatally detected trisomy 7 mosaicism in a dysmorphic child

Cited by 27 publications

References 28 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)

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

HOMOZYGOUS Α-Thalassemia WITH TRISOMY 7 MOSAICISM IN a LIVE-BORN INFANT

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