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A case report of infant with robertsonian translocation

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Author Details : Darshna Pandya, Manish Pandya*, Shrina Shah, Jiten Senta

Volume : 6, Issue : 1, Year : 2019

Article Page : 119-121

https://doi.org/10.18231/2394-2754.2019.0029

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Abstract

Robertsonian translocations carry reproductive risks that are dependent on the chromosomes involved and the sex of the carrier Robertsonian translocation (14:15)(q10;q10)4p is rare and account for only 0.6%.
We describe a case with rob (14;15) in which the phenotype includes:
Generalized hypotonia, respiratory distress, high arch palate, left ear-grooves abnormal, prominent nasal bridge, left impatent nasolacrimal duct, dysmorphic face.
Chromosome analysis with peripheral blood was performed, while the karyotype was interpreted as 45,XX, der (14;15)(q10;q10)4p.out of two chromosome number 4, one Chromosome 4 has found deleted from 'p' arm small arm In wolf-hirschhorn Syndrome.
Molecular studies associated with spinal muscular atrophy and progressive muscular dystrophy also had negative findings. We suggest that rob(14;15)(q10;q10)4p could be Related to clinical presentation like this case.

Keywords: PGD, reproductive risks, Robertsonian translocation, Chromosomes, Down syndrome, Aneuploidy, Trisomy, Translocation (genetics), Mosaicism, Preimplantation diagnosis.

How to cite : Pandya D, Pandya M, Shah S, Senta J, A case report of infant with robertsonian translocation. Indian J Obstet Gynecol Res 2019;6(1):119-121

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