[Partial 10q trisomy (q24;q ter) caused by a balanced maternal translocation t(6;10)(q26;q24)]. / Trisomía parcial 10q (q24;q ter) debida a una translocación materna t(6;10)(q26;q24) balanceada.

Authors have had the opportunity to study a patient affected by a malformative syndrome with severe motricity and mental retardation. Physical findings (namely: spacious forehead, flat and round face, small palpebral fissures, hypotonicity and growth retardation) are similar to the phenotype previously described in trisomy 10q. Chromosomal diagnosis failed until G, Q and R banding technique was applied. With this technique a partial 10q trisomy (q24 leads to q ter) due to a maternal translocation t(6:10)(q26;q24) was found.

[Thrombocytopenia-absent radius syndrome (author's transl)]. / El síndrome de trombopenia-aplasia radial (TAR). A propósito de un caso.

A patient affected with thrombocytopenia and bilateral absence of radius is described. Authors present data suggesting an acquired etiology: intrauterine cytomegalovirus infection and X-ray exposure during the ovulatory period. Patient showed some radiological features not previously described: methacarpian synostosis and absence of sternum ossification centers. Anemia was etiologically related to the iron deficiency secondary to bleeding. Chronic diarrhea, a feature common in this syndrome, was caused by cow's milk protein intolerance, other causes of chronic diarrhea, like pancreatic malfunction or disaccharidal intolerance were discarted. Finally comments on the differential diagnosis of the illness, its' evolution and treatment, pointing out the possibility of an intrauterine diagnosis, crucial for a correct genetic counselling are made.