Further characterization of 19 cases of rea(21q21q) and delineation as isochromosomes or robertsonian translocations in down syndrome

Shaffer, Lisa G.; McCaskill, Christopher; Haller, Vickie; Brown, J. Anne; Jackson‐Cook, Colleen

doi:10.1002/ajmg.1320470818

Cited by 48 publications

(48 citation statements)

References 12 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…De novo derivative chromosomes 21 [(der(21;21)(q10;q10)] are rare, and most of them are isochromosomes. 1,2 To the best of our knowledge mosaicism with a normal cell line and a der(21;21)(q10;q10) in a second cell line has been described in the literature in 17 cases. [3][4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19] Most of them were ascertained by extensive cytogenetic investigations in the parents performed after the birth of a child with trisomy 21 due to der(21;21)(q10;q10) in all cells.…”

Section: Introductionmentioning

confidence: 99%

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

View full text Add to dashboard Cite

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.

show abstract

Section: Introductionmentioning

confidence: 99%

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

View full text Add to dashboard Cite

show abstract

“…The parental origins of the de novo isochromosomes are roughly equally divided between maternally derived and paternally derived rearrangements. This is in sharp contrast to ROB formation, which is almost exclusively maternal in origin [12] .…”

Section: Discussionmentioning

confidence: 63%

Prenatal Detection of Isochromosome 21 by QF-PCR

Gole

Lian

et al. 2008

Fetal Diagn Ther

View full text Add to dashboard Cite

Objective: To compare rapid aneuploidy diagnostic tests with traditional karyotyping in the prenatal detection of Down syndrome due to isochromosome 21. Methods: Quantitative fluorescence PCR (QF-PCR) and fluorescent in situ hybridization (FISH) for chromosomes 13, 18, 21, X and Y were performed on uncultured amniotic fluid, followed by routine karyotyping. Chromosomal and microsatellite analysis of peripheral blood from parents was also carried out. Results: The QF-PCR screening showed a trisomic diallelic pattern for 5 of 6 markers spanning the long arm of chromosome 21. FISH showed 3 signals in the interphase cells for the region 21q22.13-q22 during LSI 21 probe mapping. Cultured amniotic fluid revealed an isochromosome 21 resulting in a 46,XX,i(21)(q10),+21 karyotype. Parental microsatellite analysis proved that the isochromosome was paternal in origin. Conclusion: The most informative analytical tool in this case appears to be QF-PCR, although a combination of QF-PCR and karyotyping provided the most evidence.

show abstract

“…On the cytogenetic level, it was not possible to distinguish an isochromosome i(13q) from a Robertsonian translocation of two homologous chromosomes 13. DNA studies of trisomy 21 due to de novo rea(21q;21q) have concluded that the majority is due to isochromosomes i(21q) and not translocations between two chromosomes 21 [14][15][16][17]. Similar [18][19][20][21].…”

Section: Discussionmentioning

confidence: 99%

Prenatal Diagnosis of Translocation 13;13 Patau Syndrome: Clinical Features of Two Cases

Pazarbaşı¹,

Demırhan²,

Süleymanova-Karahan³

et al. 2008

Balkan Journal of Medical Genetics

View full text Add to dashboard Cite

Patau syndrome is associated with extra chromosome 13 material, either free as in the 47,+13 or in a Robert sonian translocation or another rearrangement. We report on two fetuses with trisomy 13 who were diagnosed prenatally via cord blood and amniocentesis, respectively. They showed de novo Robertsonian translocation between chromosome 13 and 13, and had normal parents. One was detected cytogeneticaly at 24 weeks of gestation with a karyotype of 46,XX, rob(13;13) and lived only 1 month after birth. Holoprosencephaly, proboscis, microphthalmia and heart septal defects were present. The other fetus was examined at 14 weeks gestation because of cystic hy groma, hydrothorax and hyperechogenic kidneys and had the karyotpe 46,XY, rob(13;13). After abortion the fetus was found to have a cleft lip and palate, postaxial poly dactyly of the feet, micrognathia, omphalocele, low-set ears with abnormal helix and to be small for the gestational age. Due to the difference in chromosomal makeup seen in non disjunction, there may be differences in expression of several of the features often seen with trisomy 13, either classical type (as in the 47,+13) or de novo Robertsonian translocation type (as in the 46).

show abstract

Further characterization of 19 cases of rea(21q21q) and delineation as isochromosomes or robertsonian translocations in down syndrome

Cited by 48 publications

References 12 publications

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

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

Prenatal Detection of Isochromosome 21 by QF-PCR

Prenatal Diagnosis of Translocation 13;13 Patau Syndrome: Clinical Features of Two Cases

Contact Info

Product

Resources

About