Boletín médico del Hospital Infantil de México
versión impresa ISSN 1665-1146
GOMEZ-VALENCIA, Luis; RIVERA-ANGLES, Miriam Margot; MORALES-HERNANDEZ, Anastasia y BRICENO-GONZALEZ, María de los Remedios. Down's syndrome associated with a balanced Robertsonian translocation 13;14 maternally transmitted in the product of a twin diamniotic pregnancy. Bol. Med. Hosp. Infant. Mex. [online]. 2011, vol.68, n.3, pp. 225-229. ISSN 1665-1146.
Background. Robertsonian translocations involve the long arm of acrocentric chromosomes with chromosomes13q;4q being predominantly involved. This defect can be transmitted along several generations, giving rise to chromosomally abnormal products with complete aneuploidy. It is unusual to observe this type of mutation associated with another chromosomal anomaly involving chromosome 21. The objective of this study was to describe the case of a newborn with Down's syndrome (regular trisomy 21) associated with a 13q;14q Robertsonian translocation. Case report. We report the case of a newborn male who was the product of a twin pregnancy. At birth, the newborn demonstrated the following: absent Moro's reflex, brachicephaly, slating ocular fissures, depressed nasal bridge, low-set ears, short neck, transverse palmar crease, clinodactyly of the fifth finger, right testicle undescended, and a heart murmur. Chromosomal study revealed 46.XY, t(13;14) (q10;q10), +21. Cytogenetic analysis of the family revealed in the mother (II-1) 45,XX, t(13;14) (q10;q10), the father (II-2) 46,XY; the mother's brother (II-3) 46,XY; the newborn's older sister (III-1) 46,XX; twin brother 45,XY, t(13;14) (q10;q10). Conclusions. This was an unusual case of the association of Down's syndrome with a balanced Robertsonian translocation of chromosome 13;14 maternally transmitted.
Palabras llave : Down syndrome; Robertsonian translocation; chromosomic abnormalities; trisomy 21.