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

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OMRANI M.D.; SALEH GARGARI S.

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Journal Paper

Paper Information

Journal: JOURNAL OF RESEARCH IN MEDICAL SCIENCES (JRMS) Year:2007 | Volume:12 | Issue:2 Page(s): 100-103

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Information Journal Paper

Title

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

Author(s)

OMRANI M.D. | SALEH GARGARI S. | Issue Writer Certificate

Keywords

ROBERTSONIAN TRANSLOCATION

UNIPARENTAL DISOMY

CHROMOSOME 14

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.

Cites

HOMOZYGOSITY FOR A ROBERTSONIAN TRANSLOCATION (13Q;14Q) IN A PHENOTYPICALLY NORMAL 44, XX FEMALE WITH A HISTORY OF RECURRENT ABORTION AND A NORMAL PREGNANCY OUTCOME (CASE REPORT)

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APA: Copy

OMRANI, M.D., & SALEH GARGARI, S.. (2007). UNIPARENTAL DISOMY RESULTING FROM HETEROZYGOUS ROBERTSONIAN TRANSLOCATION (13Q14Q) IN BOTH PARENTS. JOURNAL OF RESEARCH IN MEDICAL SCIENCES (JRMS), 12(2), 100-103. SID. https://sid.ir/paper/556060/en

Vancouver: Copy

OMRANI M.D., SALEH GARGARI S.. UNIPARENTAL DISOMY RESULTING FROM HETEROZYGOUS ROBERTSONIAN TRANSLOCATION (13Q14Q) IN BOTH PARENTS. JOURNAL OF RESEARCH IN MEDICAL SCIENCES (JRMS)[Internet]. 2007;12(2):100-103. Available from: https://sid.ir/paper/556060/en

IEEE: Copy

M.D. OMRANI, and S. SALEH GARGARI, “UNIPARENTAL DISOMY RESULTING FROM HETEROZYGOUS ROBERTSONIAN TRANSLOCATION (13Q14Q) IN BOTH PARENTS,” JOURNAL OF RESEARCH IN MEDICAL SCIENCES (JRMS), vol. 12, no. 2, pp. 100–103, 2007, [Online]. Available: https://sid.ir/paper/556060/en

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