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UNIPARENTAL DISOMY RESULTING FROM HETEROZYGOUS ROBERTSONIAN TRANSLOCATION (13Q14Q) IN BOTH PARENTS

Mir Davood Omrani, Soraya Saleh Gargari

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Abstract

Uniparental disomy (UPD) is a situation in which both members of a chromosome pair are inherited from one parent. This study has been conducted on a family with a five year-old healthy girl and a mentally retarded boy. The parents were first cousins and they both had Robertsonian translocation between their long arm of chromosome 13 and 14 [45, XY t (13q14q)]. Their affected son had a similar karyotype. Their daughter’s karyotype revealed the presence of a homozygous Robertsonian 13/14 translocation 44, XX t (13q14), t(13q14q). According to the clinical findings it is possible to conclude that the affected boy suffers from UPD. KEY WORDS: Robertsonian translocation, uniparental disomy, chromosome 14.

About this research paper

What this paper is about

Uniparental disomy (UPD) is a situation in which both members of a chromosome pair are inherited from one parent. This study has been conducted on a family with a five year-old healthy girl and a mentally retarded boy. The parents were first cousins and they both had Robertsonian translocation between their long arm of chromosome 13 and 14 [45, XY t (13q14q)]. Their affected son had a similar karyotype. Their daughter’s karyotype revealed the presence of a homozygous Robertsonian 13/14 translocation 44, XX t (13q14), t(13q14q). According to the clinical findings it is possible to conclude that the affected boy suffers from UPD. KEY WORDS: Robertsonian translocation, uniparental disomy, chromosome 14.

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Available abstract

Uniparental disomy (UPD) is a situation in which both members of a chromosome pair are inherited from one parent. This study has been conducted on a family with a five year-old healthy girl and a mentally retarded boy. The parents were first cousins and they both had Robertsonian translocation between their long arm of chromosome 13 and 14 [45, XY t (13q14q)]. Their affected son had a similar karyotype. Their daughter’s karyotype revealed the presence of a homozygous Robertsonian 13/14 translocation 44, XX t (13q14), t(13q14q). According to the clinical findings it is possible to conclude that the affected boy suffers from UPD. KEY WORDS: Robertsonian translocation, uniparental disomy, chromosome 14.

Key concepts: Robertsonian translocation, Uniparental disomy, Chromosomal translocation, Karyotype, Daughter, Genetics, Chromosome, Medicine

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UNIPARENTAL DISOMY RESULTING FROM HETEROZYGOUS ROBERTSONIAN TRANSLOCATION (13Q14Q) IN BOTH PARENTS — Research Paper | ScholarLens