Journal des syndromes génétiques et de la thérapie génique
Libre accès

Abstrait

Two Familial Cases of Robertsonian Transloacations 13; 14 and Its Clinical Consequences

Sushil Kumar Jaiswal, Aishvarya Upadhyay, Akhtar Ali, Shashi Kala Upadhyay, Ashok Kumar and Amit Kumar Rai

Two familial cases of Robertsonian translocation 13;14 [rob t(13;14)] and its clinical manifestation in children are discussed in present report. In case-1, father and child both were having [rob t(13;14)] with karyotype [45,XYrob(13;14)(q10;q10)] and [46,XY,rob(13;14)(q10;q10),+21] respectively. The child was presented with clinical characteristics of Down syndrome (DS) due to trisomy 21. The child and father both were having soft sub-mucous cleft palate. In case-2, child and mother both were having rob t(13;14) with karyotype [45,XX,rob(13;14)(q10;q10)]. Mother was phenotypically normal but both of her children were presented with gross developmental delay for all the four areas, i.e., gross motor, adaptive, language and personal social behavior. Interestingly all the carriers of [rob t(13;14)] showed abnormal clinical features: like soft sub-mucous cleft palate with DS in case-1 child, soft sub-mucous cleft palate and Inter Chromosomal Effect (ICE) in case-1 father, miscarriage and birth of children with congenital problem in case-2 mother and gross developmental delay in case-2 child. It was assumed that the co-occurrence of [rob t(13;14)] and trisomy 21 in case-1 child was due to phenomenon of ICE in father carrying [45,XY,rob(13;14)(q10;q10)].