Balanced homologous translocation t(22q22q) in a phenotypically normal woman with repeated spontaneous abortions

Farah, L; Nazareth, H.R. de S.; Dolnikoff, M.; Deláscio, D

doi:10.1007/bf00284812

Cited by 9 publications

(5 citation statements)

References 13 publications

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“…It is highly probable that non-mosaic complete trisomy 22 is lethal. This is supported by four spontaneous abortions and no successful pregnancies in a 22/22 translocation carrier (Schwinger 1973), a female carrier of a 22/22 translocation who had 15 first trimester abortions and no successful pregnancies (Farah et al 1975), and a 50 % spontaneous abortion rate in four female carriers of a 15/22 translocation (Fried et al 1974). The seventh abortus of yet another 22/22 translocation carrier had a 46,XX, -22, + t(22q22q) karyotype.…”

Section: Discussionmentioning

confidence: 79%

Partial trisomy 22: A recognizable syndrome

1977

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A patient identified as being a partial trisomy 22 mosaic is presented. The presence of a translocation t(4;22) (pter;q12) is noted in the mother, sister and maternal aunt. Comparison is made with nine other reported cases of partial trisomy 22 confirmed by parental translocation. These suggest a definite syndrome, including mental retardation, congenital heart disease, skeletal anomalies, anti‐mongoloid slant of the palpebral fissures, preauricular skin tags and low‐set ears.

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Section: Discussionmentioning

confidence: 79%

Partial trisomy 22: A recognizable syndrome

1977

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“…It is likely that full trisomy 22 is always lethal in man. Several examples of repeated spontaneous abortion experienced by 22/22 translocation carriers have been described [Schwinger, 1973;Farah et al, 1975;Maeda et al, 19761. One 22/22 carrier gave birth to a liveborn normal daughter who was also a 22/22 carrier [Kirkels et al, 19801.…”

Section: Discussionmentioning

confidence: 94%

Tandem duplication of proximal 22q: A cause of cat‐eye syndrome

et al. 1985

Am. J. Med. Genet.

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A boy with bilateral colobomas, preauricular pits, and developmental delay had a 46,XY,22q+ karyotype. His parents had normal chromosomes. The abnormality of 22q was interpreted as a de novo tandem duplication of 22q11.1----q11.2. Although no anal abnormality was identified, his manifestations are otherwise consistent with those of the cat-eye syndrome. Blood marker results and the levels of galactosidase-2, galactosidase-B and arylsulfatase-A, which are known to be coded on 22q, are normal.

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“…However, eager to have their own baby, many balanced translocation carriers have tried to beat the odds. For example, a woman with t(22q22q) who had 15 miscarriages, was instructed not to become pregnant again [Farah et al, 1975], but according to a further report, she was pregnant 9 more times [Robinson et al, 1994]. A couple in which the wife was a carrier of a balanced translocation t(22q22q)mat had decided to not to proceed with sterilization, even though they had had 6 miscarriages, after learning that the proband's mother had the same aberration [Palmer et al, 1980].…”

Section: Resultsmentioning

confidence: 99%

Under‐ascertainment of mosaic carriers of balanced homologous acrocentric translocations and isochromosomes

Kovaleva

Shaffer

2003

American J of Med Genetics Pt A

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Acrocentric rearrangements are the most common chromosome abnormalities in humans. Carriers of homologous acrocentric rearrangements (Robertsonian translocations (ROBs) between homologous chromosomes and isochromosomes) are at very high risk of having multiple spontaneous abortions and chromosomally abnormal offspring. Parents of fetuses and children with unbalanced homologous acrocentric rearrangements are rarely found to be carriers or mosaic for the same rearrangement. Even though recurrent miscarriages may indicate a carrier parent, carriers are rarely identified. Comparison of non-chromosome 21 homologous rearrangements to rea(21q21q) culled from the literature revealed a 7-fold decrease in the number of mosaic cases among the parents of non-rea(21q21q) offspring. This under-ascertainment in parents may be due to low level mosaicism confined to the gonads, a true biological difference between chromosome 21 rearrangements and other homologous acrocentric rearrangements, or simply to the lack of rigorous clinical investigation of the parental karyotypes to uncover mosaicism. We recommend that polymorphic marker analysis be applied to apparently de novo acrocentric rearrangements to distinguish those resulting from biparental postzygotic formation from those resulting from meiotic formation; the latter of which may indicate a potential carrier parent. Parental chromosomal constitutions could then be screened in a large number of cells and in more than one tissue type to identify mosaicism. Identification of mosaicism allows for accurate genetic counseling and discussion of reproductive options. However, given that mosaicism may be restricted to the gonads, prenatal testing is likely to be desired by the family whether or not mosaicism is found.

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Balanced homologous translocation t(22q22q) in a phenotypically normal woman with repeated spontaneous abortions

Cited by 9 publications

References 13 publications

Partial trisomy 22: A recognizable syndrome

Partial trisomy 22: A recognizable syndrome

Tandem duplication of proximal 22q: A cause of cat‐eye syndrome

Under‐ascertainment of mosaic carriers of balanced homologous acrocentric translocations and isochromosomes

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