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Congenital Malformations In Chromosomal Abnormalities: Analysis of 18 Autopsy Cases : 염색체 이상 증후군의 병리학적 검색

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Suh, Yeon-Lim; Chi, Je G.

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Seoul National University College of Medicine
Seoul J Med, Vol.29 No.4, pp. 333-342
ChromosomeMalformationTrisomy syndromeEdwards syndromeDown syndromePatau syndrome
To determine the structural anomalies associated in various chromosomal
aberration syndromes we have analyzed postmorm findings of 18 autopsies with chromosomal
anomalies that were collected during the last 14 years, 1975-1988. The diagnosis was
confirmed by karyotyping in 14 cases and characteristic sets of anomalies in 4 cases.
The cases consisted of 10 cases of Edwards syndrome, 5 cases of Down syndrome, 2 cases
of Patau syndrome and one case of 4p-syndrome. Four cases were stillborns and 14 cases
survived from a few hours to months. There were 3 males and 15 females. Cardiovascular
malformations were common. They were patent ductus arteriosus, atrial septal defect and
ventricular septal defect. They were particularly common in Down and Edwards syndrome.
Among respiratory anomalies, abnormal lobation was common. Tracheo-esophageal fistula
and lung hypoplasia were also seen in some cases. They were particularly common in
Edwards syndrome. Gastrointestinal malformations were also frequently encountered in
Edwards syndrome. They were diaphragmatic hernia, Meckel's diverticulum and mobile intestine.
Genitoruinary malformation consisted of cystic dysplasia, horseshoe kidney and
hypoplasia of gonads. These anomalies were also common in Edwards syndrome. Central
nervous system anomalies were common in Patau syndrome. Holotelencephaly and microcephaly
were common. Other skeletal and characteristic facial anomalies were also seen in
these malformation sydrome.
It was concluded that a fairly characteristic constellation of structural defects were associated
with specific type of chromosomal abnormalities. Therefore these sets of findings could
be applied as diagnostic criteria when chromosomal analysis is not available or fails.
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