Tetrasomy 18p de novo: Parental Origin and Different Mechanisms of Formation

Bugge, Merete; Blennow, Elisabeth; Friedrich, Ursula; Petersen, Michael B.; Pédeutour, Florence; Tsezou, Aspasia; Ørum, Alena; Hermann, Stig; Lyngbye, Troels; Sarri, Catherine; Avramopoulos, Dimitrios; Kitsiou, Sofia; Lambert, Jean-Claude; Guzda, Michèle; Tommerup, Niels; Brøndum‐Nielsen, Karen

doi:10.1159/000472190

Cited by 35 publications

(35 citation statements)

References 14 publications

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“…For the different modes of origin of additional isochromosomes see also Kotzot et al 2 and an illustrative diagram in Bugge et al 1 The results of similar investigations in families with a proband with additional isochromosome 18p, 1,2 the single result on a case with a supernumerary isochromosome 8p, 3 and the cases of this report seem to suggest a common parental origin. A maternal origin is found in the overwhelming majority of cases with additional autosomal isochromosomes.…”

Section: Origin Of Isochromosomes F Dutly Et Alsupporting

confidence: 61%

Isochromosomes 12p and 9p: parental origin and possible mechanisms of formation

et al. 1998

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In a recent study Bugge et al 1 and Kotzot et al 2 reported that isochromosomes 18p originate mainly from maternal meiosis II nondisjunction, followed by misdivision. In order to determine if there is a common mechanism for isochromosome formation, three cases with mosaicism for an additional isochromosome 12p and three cases with tetrasomy 9p were studied. Two probands with isochromosomes 12p and the three cases with isochromosome 9p showed 3 alleles (two different maternal alleles and one paternal allele) at several loci mapping to distal 12p and 9p, respectively. Maternal heterozygosity for distal markers was reduced to homozygosity for markers closer to the centromere in both i(12p) cases and in one i(9p) case. For one patient with isochromosome 12p, the maternal band was clearly stronger than the paternal one at some loci, but two distinct maternal alleles were never seen. For one foetus and the patient with tetrasomy 9p, distal markers showed maternal heterozygosity. All proximal markers were not informative in these two i(9p) cases. Our findings indicate common features in different autosomal isochromosomes: the origin of the isochromosomes analysed is predominantly maternal; and a common mechanism appears to underlie their formation, namely due to meiosis II nondisjunction followed by a rearrangements leading to duplication of the short and loss of the long arm.

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Section: Origin Of Isochromosomes F Dutly Et Alsupporting

confidence: 61%

Isochromosomes 12p and 9p: parental origin and possible mechanisms of formation

et al. 1998

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“…Recently published studies on the etiology of additional mono centric isochromosomes 18p [i(18p)] indicate that the majority of cases are the result of a nondisjunctional event in maternal meiosis II (Mil) immediately followed by a centromeric misdivision in meiosis or in an early postzygotic mitosis [1][2][3]. These findings are consistent with observations in trisomy 18 in which the majority of the reported cases originate from maternal meiosis II [4,5].…”

supporting

confidence: 79%

“…In the majority of cases, a maternal Mil nondisjunction was followed by a meiotic or postmeiotic centromeric misdivision. Additionally, Bugge et al [1] presented two cases with possible maternal meiosis I (MI) nondisjunction and one family with an i(18p) originating from a postmeiotic nondisjunction. Nondisjunction in paternal meiosis has rarely been identified as the cause of an autosomal trisomy.…”

mentioning

confidence: 99%

Tetrasomy 18p Caused by Paternal Meiotic Nondisjunction

Eggermann¹,

Engels²,

Apacik³

et al. 1997

Eur J Hum Genet

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“…Moreover, the cascade of meiotic and subsequent postmeiotic errors resembles those leading to an additional isochromosome 9p, 12p, or 18p subsequent to trisomy 9, 12, or 18, respectively, formed at meiosis II [24][25][26] and a combination of partial trisomy 16p and maternal UPD 16 in one case. 21 In conclusion, a minimum of three events is necessary to explain the karyotype in our patient.…”

Section: Discussionmentioning

confidence: 97%

Paternal meiotic origin of der(21;21)(q10;q10) mosaicism [46,XX/46,XX,der(21;21)(q10;q10),+21] in a girl with mild Down syndrome

Kotzot

Schinzel

2000

Eur J Hum Genet

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Mosaicism for a derivative 21, der(21;21)(q10;q10), is a rare chromosomal abnormality. Since a normal cell line is present, mitotic origin is considered. Chromosome examination of a female with developmental delay and dysmorphic features compatible with mosaic trisomy 21 revealed a normal cell line and a second cell line with a der(21;21)(q10;q10) [46,XX/46,XX,der(21;21)(q10;q10), + 21]. Molecular investigation with a panel of highly polymorphic microsatellites mapping to chromosome 21 demonstrated three different alleles, two of paternal and one of maternal origin. Therefore, either formation of the der(21;21)(q10;q10) during paternal meiosis with subsequent loss of the der(21;21)(q10;q10) and mitotic reduplication of the maternal homologue in the normal cell line, or more likely a zygote with paternally derived trisomy 21 and subsequent mitotic formation of the der(21;21)(q10;q10) have to be considered. This case again shows that mammalian chromosome aberrations may have a more complex mechanism of formation than was previously thought.

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Tetrasomy 18p de novo: Parental Origin and Different Mechanisms of Formation

Cited by 35 publications

References 14 publications

Isochromosomes 12p and 9p: parental origin and possible mechanisms of formation

Isochromosomes 12p and 9p: parental origin and possible mechanisms of formation

Tetrasomy 18p Caused by Paternal Meiotic Nondisjunction

Paternal meiotic origin of der(21;21)(q10;q10) mosaicism [46,XX/46,XX,der(21;21)(q10;q10),+21] in a girl with mild Down syndrome

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