TRIPLOIDY SYNDROME WITH
CLINICAL AND AUTOPSY FINDINGS
Özt¨¹rk
MA1, Özt¨¹rk F2, G¨¹neş T1, Akçakuş M1,
Özkul Y3, Karaman H2 1Erciyes University, Medical
Faculty, Pediatrics Dept., Kayseri, Turkey
2Erciyes University, Medical
Faculty, Pathology Dept., Kayseri, Turkey
3Erciyes University, Medical
Faculty, Genetic Dept., Kayseri, Turkey
Introduction: Triploidy is the most
common chromosomal anomaly in human gestation, occurring in 1% of all
conceptions. Most
triploidies abort spontaneously during the first trimester, and the
prevalence of triploid pregnancy at 16 to 20 weeks is estimated to be
around 0.002%. Triploid
fetuses are usually growth retarded and have severe anatomic defects of the
head, face, heart, and extremities, etc.
Case report: We reported the case
of a four hours-old boy neonate consistent with the diagnosis of Triploidy
syndrome. A newborn baby was transferred to our Neonatal Intensive Care
Unit from a peripheral hospital for further assessment because of the
"unusual appearance". The baby was small for gestational age with
severe intrauterine growth deficiency with a birth weight of 1200 g at 40
weeks of gestation. He had low set ears, hypertelorism, iris colobomata and
partial cleft palate. There was syndactaly of third and fourth digits in
both upper and lower limbs and bilateral pes equinovarus. Testes were
undescended on both sides and also had micropenile. Simian crease was noted
on both hands. The choromosomal analysis revealed 69,XXY triploidy karyotyping. He lived for 3
days. Autopsy has been performed after he died. It has revealed one lobe in
left lung and two lobes in right lung. There was no gallbladder.
Extramedullary hematopoesis has been found in pancreas and kidneys. Also
bicusbid tricuspid and
pulmonary valves have been seen.
Conclusion: We reported
triploidy syndrome who
had unusual clinical and
autopsy findings (e.g. lung,pancreas, gallbladder, cardiac, renal etc.).