Long-term survival of full trisomy 13 in a 14 year old male: a case report

Long term survival for the cases of trisomy 13 into over a first decade is very rare. We reported here the case of a 14-year-old male karyotype with full type of trisomy 13. In this clinical phenomenon, the case had typical facial, finger and limb anomalies for trisomy 13. Arterial septal defect and...

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Bibliographic Details
Published inEuropean review for medical and pharmacological sciences Vol. 20; no. 5; p. 919
Main Authors Imataka, G, Hagisawa, S, Nitta, A, Hirabayashi, H, Suzumura, H, Arisaka, O
Format Journal Article
LanguageEnglish
Published Italy 01.03.2016
Subjects
Adolescent
Chromosome Disorders - complications
Chromosome Disorders - diagnostic imaging
Chromosomes, Human, Pair 13 - diagnostic imaging
Ductus Arteriosus, Patent - complications
Ductus Arteriosus, Patent - diagnostic imaging
Humans
Karyotype
Male
Survivors
Trisomy
Trisomy 13 Syndrome
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Summary:Long term survival for the cases of trisomy 13 into over a first decade is very rare. We reported here the case of a 14-year-old male karyotype with full type of trisomy 13. In this clinical phenomenon, the case had typical facial, finger and limb anomalies for trisomy 13. Arterial septal defect and patent ductus arteriosus were recognized using ultrasonography after birth. Major cerebral malformation such as holoprosencephaly or cerebellar hypoplasia were also not revealed. After 5 months of his age, artificial ventilation therapy for dyspnea associated with laryngomalacia was required. A tracheotomy was performed at 6 months of his age. After 12 years old, intractable partial epilepsy was recognized. For his partial seizures, a treatment with a combination of two anti-epileptic drugs, valproic acid and levetiracetam, were advised. Now he is alive for 14-years-old and he is the 4th longest surviving patient with full karyotype of trisomy 13.
ISSN:2284-0729