Authors : Darshna Pandya, Darshna Pandya, Manish Pandya, Manish Pandya, Shrina Shah, Shrina Shah, Jiten Senta, Jiten Senta
DOI : 10.18231/2394-2754.2019.0029
Volume : 6
Issue : 1
Year : 2019
Page No : 119-121
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.