Homologous Robertsonian translocation (21q21q) and abortions

Sudha, T.; Gopinath, P. M.

doi:10.1007/bf00193208

Cited by 10 publications

(6 citation statements)

References 20 publications

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“…Carrier of this translocation cannot make normal or balanced gametes; she has not given birth to a normal child. Compared to Robertsonian translocation created by fusion of nonhomologous acrocentric chromosomes where the risk level depends on carrier gender, the carriers of the Robertsonian translocation 21q;21q have 100% risk for giving birth to children with the Down syndrome and for recurrent miscarriages regardless of sex (5). This is confirmed by the patient's reproductive actual state presented in this paper who had no healthy child born alive, but has 2 children with Down's syndrome (Figure 1.…”

Section: Discussionsupporting

confidence: 63%

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Recurrent Abortions and Down Syndrome Resulting from Robertsonian Translocation 21q; 21q

Kolgeci

Azemi²,

Ahmeti³

et al. 2012

Med Arh

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Section: Discussionsupporting

confidence: 63%

“…Robertsonian translocations formed by homologous acrocentric chromosomes cause higher risk in reproductive ability of the carrier (5). With this type of translocation, carriers of both sexes possess the maximum risk for spontaneous miscarriages or birth of children with anomaly.…”

Section: Introductionmentioning

confidence: 99%

Recurrent Abortions and Down Syndrome Resulting from Robertsonian Translocation 21q; 21q

Kolgeci

Azemi²,

Ahmeti³

et al. 2012

Med Arh

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“…However, to our knowledge, trisomy 8 and 22q-have not been reported as part of the chromosomal findings seen in known constitutional disorders. As regards t(15;21) and t (14:22), there is a possibility that these may be a part of the constitutional cytogenetic frame work, such as in the parents of a baby with Down's syndrome or in women with a history of recurrent abortions in early pregnancy [38,39].…”

Section: Discussionmentioning

confidence: 99%

Aplastic anemia or aplastic preleukemic syndrome?

Jameel

Anwar

Abdi

et al. 1997

Annals of Hematology

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The incidence of aplastic anemia appears to be relatively high in some parts of the world, including Pakistan. Since some of the etiological factors are shared by aplastic anemia and the preleukemic syndrome, there is a strong possibility that a proportion of cases of aplastic anemia may in fact be preleukemia. The study of chromosomes offers a relatively easy method of detecting cases of preleukemia, because some chromosomal abnormalities are frequently observed in this condition. Chromosomal studies were carried out in peripheral blood cell cultures of 31 patients with otherwise typical aplastic anemia. Chromosomal abnormalities were detected in 7 (22.5%) cases. The most common chromosomal abnormality detected was trisomy 8, seen in four cases. Other abnormalities detected were 22q-, t(14;22) and t(15;21), in one case each. These abnormalities have been found to be associated with AML, MDS, ALL, and NHL as well. We hypothesize that a proportion of cases of otherwise typical aplastic anemia may in fact be due to a leukemic process in evolution.

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“…In case of homologous Robertsonian translocation 21q; 21q, one parent is carrier of a translocation with a higher frequency from the mother [12]. In this case, the risk of having repetitive spontaneous miscarriages or children with Down syndrome is 100% [15,16]. In the event of parental mosaicism, the risk of recidivism is greater than in a normal population [1].…”

Section: Discussionmentioning

confidence: 99%