Robertsonian Translocation t (21; 21) in a Female Born to Normal Parents: A Case Report

Abstract

A 10-year-old female patient was admitted in the hospital with a history of trochanteric fracture of femur after road traffic accident. On examination patient was observed to have mental retardation and had Ventricular Septal Defect in the heart. The patient was born with flabby muscles, had delayed mile stones, stunted growth for the age, slanting of eyes, flat face and nasal bridge, ineligible speech, and had difficulty in carrying out her day-to-day activities [Table/ Fig-1 patient was the fourth living child of the consanguineous parents. Other three siblings of the case were normal and were pursuing their studies normally [Table/ Fig-2]. Parents of the case were third degree consanguineous. No other family members had any history of mental retardation. The history of the pregnancy during the present case was normal. The results of all biochemical tests were found to be normal.After obtaining signed informed consent, 3 ml of whole blood was collected in heparinised tube from both parents for lymphocyte culture and karyotype was prepared. The blood was cultured in RPMI 1640 with PHA medium (Peripheral Blood Karyotyping Medium, with Phytohemagglutinin (PHA-M), CAT No # 01-201-1B, Biological industries,) and harvested after 67 and half hours. Slides were prepared for GTG banding. The slides were stained by Giemsa stain (CAT No # S011-100ML, Himedia) and 20 spreads for each of the blood sample were examined for chromosomal abnormality by cytovision workstation (Leica DM6000B, Leica Microsystems).

Down syndrome caused by 21; 21 robertsonian translocation

“…Genetic counselingwith regards to recurrence and prevention is a mandatory and important aspect of management 1 . If Robertsonian translocation is identified in an offspring, it is mandatory to explore the karyotypeof both parents, since a carrier with balance translocation in a parent has 100% recurrence in next pregnancy [3][4][5] .…”

“…Robertsonian translocation carriers are phenotypically normal 4 . Rob(21;21) (q10,q10) is the rarest of all translocations causing Down syndrome [2][3][4] . These patients cannot be clinically differentiated from Down syndrome caused by other genetic causes.…”

“…These patients cannot be clinically differentiated from Down syndrome caused by other genetic causes. Fifty percent of rob (21q, 21q) occur as spontaneous de novo mutations and 95% occur during Oogenesis 3,4 . For the de novo mutation of rob (21q; 21q) with genetically normal parents, the risk of recurrence is 2-3% [3][4][5] .…”

Trisomy 21 and Assisted Reproductive Technologies: A review

“…In cases of trisomy 21 caused by translocations, the rearrangement involves Robertsonian rearrangements between the long arm of chromosome 21 (q21) and another acrocentric chromosome ( Hultén et al ., 2008 ), with chromosomes 14, 15, 22 or even the homolog of 21, being the most common ( Kusre et al ., 2015 ; Kalpana et al ., 2017 ; Yan et al ., 2017 ).…”

Implicaciones causadas por la presencia y segregación de translocaciones robertsonianas. Su diagnóstico y efectos en la población

“…Antecedentes Resultados Comentarios o Síndrome diagnosticado. Kusre G, et al 2015 (20). India Niña de 10 años con retraso mental y defecto del tabique ventricular en el corazón, músculos flácidos, retraso en el crecimiento para la edad, ojos oblicuos, cara y puente nasal planos, habla inelegible y dificultad para realizar sus actividades cotidianas.…”