Long survival in Trisomy‐13‐syndrome: 21 cases including prolonged survival in two patients 11 and 19 years old

Abstract

The mean survival in Trisomy-13-syndrome patients is reported to be 130 days. We have diagnosed 21 cases of this syndrome in this institution (11 females and 10 males); 15 patients had regular trisomy 13 and 6 had translocation-trisomy 13 karyotypes. The mean survival of the 19 patients who died was 97.05 days; translocation patients survived longer than regular trisomy patients. The oldest living patients with trisomy 13 are a girl 19 and a boy 11 years old. Both are black, have regular trisomy 13 karyotypes and have had most of the manifestations of the syndrome. No mosaicism was detected in repeated cytogenetic studies. The 19-year-old patient is the oldest known living person with regular trisomy 13.

Patau syndrome with a long survival (146 months): A clinical report and review of literature

“…Trisomy 13 is characterized by multiple malformations of the cardiac, central nervous, and urogenital systems [Phatak et al, 2004]. There have only been five cases of patients with trisomy 13 previously reported, who had survived past the first decade [Redheendran et al, 1981;Singh, 1990;Zoll et al, 1993;Tunca et al, 2001]. In this report, we present a newborn with trisomy 13, the fourth longest described in the literature and the longest survival (146 months) reported in Greece.…”

“…Other findings included abnormal low-set ears, dysplastic auricles, small chin, protruding lower lip, omphalocele, and malformation of the legs. It is interesting that characteristics such as cleft lip or palate, polydactyly or cutis aplasia were absent although they are present in 80% of patients with the syndrome [Redheendran et al, 1981]. In addition she did not have congenital heart defects, renal malformations, but had limb and genital anomalies.…”

Stunted growth with more or less normal appearance

“…In the cri-du-chat syndrome adult stature ranges between 128 and 168 cm [317@ In the 18q-syndrome adult stature has also been found to be below the 3rd centile [250]. Since many of the patients with chromosomal abnormalities die before adulthood there are only sporadic reports about the final heights in the less common abnormalities [48,223,266].…”

Anaesthesia in a child with Patau's syndrome

“…In view of these potential difficulties, aids to intubation, including a fibreoptic bronchoscope, should be available for these cases. Children surviving into later life may have thoracic kyphoscoliosis, pectus carinatum or short barrel chest [5][6][7]131 and therefore are likely to have reduced lung volumes, ineffectual cough and increased risk of postoperative respiratory problems. Similarly, a cleft palate, which is present in 75% of cases, is associated with problems in deglutition, pulmonary aspiration and chest infections.…”