Unexpected Inheritance of a Balanced Homologous translocation t(22q;22q) from father to a phenotypically normal daughter.
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Date
2014-01
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Abstract
Rearrangements between homologous chromosomes
are extremely rare and manifest mainly as monosomic
or trisomic offsprings. There are remarkably few reports
of balanced homologous chromosomal translocation
t (22q; 22q) and only two cases of transmission of this
balanced homohologous rearrangement from mother to
normal daughter are reported. Robersonian translocation
carriers in non‑homologous chromosomes have the ability
to have an unaffected child. However, it is not possible
to have an unaffected child in cases with Robersonian
translocations in homologous chromosomes. Carriers of
homologous chromosome 22 translocations with maternal
uniparental disomy do not have any impact on their
phenotype. We are presenting a family with a history of
multiple first trimester miscarriages and an unexpected
inheritance of balanced homologous translocation of
chromosome 22 with paternal uniparental disomy. There
are no data available regarding the impact of paternal
UPD 22 on the phenotype. We claim this to be the first
report explaining that paternal UPD 22 does not impact
the phenotype.
Description
Keywords
Balanced homologous chromosomal translocation, inheritance, uniparental disomy
Citation
Chopade D K, Harde Harish, Ugale Pallavi, Chopade Sandesh. Unexpected Inheritance of a Balanced Homologous translocation t(22q;22q) from father to a phenotypically normal daughter. Indian Journal of Human Genetics. 2014 Jan-Mar ;20 (1): 85-88.