Reproductive follow-up of carriers of familial reciprocal balanced translocations involving chromosome 9 and comparison with predicted outcome

P. Castorina, O. Rodeschini, G. Nocera, L. Larizza

Research output: Contribution to journalArticle

Abstract

Reproductive follow-up of carriers of familial reciprocal balanced translocations involving chromosome 9 and comparison with predicted outcome: Chromosome 9 is commonly implicated in reciprocal translocations (rcp). Twenty-seven families segregating rcp involving chromosome 9 were selected with the aim of comparing the theoretical risk of Mental Retardation with Congenital Anomalies (MCA/MR) calculated according to Human Cytogenetics Forum with the observed reproductive follow-up. The 27 families include 157 subjects. The reproductive follow-up showed that the majority of mothers underwent full-term pregnancies (88/130), and that there were 37 spontaneous and five voluntary abortions. Eighty-one subjects were karyotyped: 18 had a normal karyotype, 50 carried an rcp, ten had an unbalanced rcp-related karyotype and three an abnormal rcp-unrelated karyotype. Of the 88 live-born individuals, seven had an abnormal rcp-related karyotype with partial chromosome 9 trisomy (four cases) or partial 9p monosomy (three cases), and 48 were rcp carriers, two of whom also presented additional anomalies. The evaluation of reproductive outcomes in the 27 families studied revealed good concordance between the Human Cytogenetics Forum predictions and the observed follow-up in relation to the most probable mode of unbalance at birth, and the higher risk of MCA/MR in rcp carriers with unbalanced live-horns in comparison with those generating healthy progeny.

Original languageEnglish
Pages (from-to)229-239
Number of pages11
JournalGenetic Counseling
Volume11
Issue number3
Publication statusPublished - 2000

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Chromosomes, Human, Pair 9
Karyotype
Cytogenetics
Abnormal Karyotype
Horns
Intellectual Disability
Parturition
Pregnancy

Keywords

  • Chromosome 9
  • Familial reciprocal translocation
  • Predicted outcome
  • Reproductive follow-up

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Reproductive follow-up of carriers of familial reciprocal balanced translocations involving chromosome 9 and comparison with predicted outcome. / Castorina, P.; Rodeschini, O.; Nocera, G.; Larizza, L.

In: Genetic Counseling, Vol. 11, No. 3, 2000, p. 229-239.

Research output: Contribution to journalArticle

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