18p- ???? ??? ???? ? ????? ????? ???? ??? ????, 1963? Grouchy ?? ?? ???? ?????. ??? ?????? ????(holoprocencephaly), ???(microcephaly), ???(hydrocephalus) ?? ????, ????(ptosis), ???(low set ear), ????(micrognathia), ???(webbed neck), ???(cleft lip),

1
????? ??? 18p- ??? 2? ???, ???, ???, ???, ???,
??? ????? ???? ???????
? ? 18p- ???? ??? ???? ? ????? ????? ???? ???
????, 1963? Grouchy ?? ?? ???? ?????. ??? ??????
????(holoprocencephaly), ???(microcephaly),
???(hydrocephalus) ?? ????, ????(ptosis), ???(low
set ear), ????(micrognathia), ???(webbed neck),
???(cleft lip), ???(cleft palate) ?? ????? ?????,
????? 18p- ????? ??? ??? ???? ??? ??? ??. ????
??????(atrial septal defect)? ??? 18p- ??? 1??
????? ? ???, ?? ????????? ?? ??? ??? ??? ?? 2??
18p- ???? ?????, 2? ???? ????? ???? ?? ??? ?? ??
????? ??.
Fig. 1 Case 1 with multiple external malformation
? ? lt?? 1gt ?? ?? ??? ??? ???? 38?, ??
?? ??, 2.4 kg ??? ?? ???(microcephaly),
???(hydrocephalus), ???, ???, ???(low-set ear),
???(webbed neck) ? ?????? ??? ??? ??? ??? ???
??? ?? ??? ???. ??? ?? ??? ?? ??, ??? ??? ??
???? ??? ??? ??? ?????. ???? ??? ??(G-???)?? 20??
??????? ?????, ?? ?????? 46,XY,del(18)(p11.2)?
??? ???. ?? ?? ??? pansystolic murmur? ???,
????? ??? 3.2mm ??? ??????? ?????, ?? ? ??? ???
?????. ?? ? ?? ??? ???? ??? ??? ??? ?????, ???
??? ? 3???(?? 9??) ?? ???? ?????, ?? ? ??? ???
????, ??? ??? ?? ?? ?????. ????? ??? ???? ??? ??
????? ????. lt?? 2gt ?? 11? ?? ?? 2????
??? ?? ??? ?? ??? ??? ?? ??? ??? ?? ?????.
??? ?? ????(high arched palate)?
????(malocclusion) ? ?????(situs inversus) ???
??? ??? ??? ??? ??? ?? ??? ???. ????? ??? ????
???? ? ???, ?-??????(???? 1?? ??)? ??, ?? ???
???? ???? ???. ??? ?? ??? ?? ?? 8??? ?? ????
2? ?? ???? ?? ????. ?????? ? ????? ???
???(dextrocardia)? ???? ???? ??? ?? ?????(situs
inversus)? ?????. ??? ?? ???? ??? ??? ???? ???
?? ?? 46,XY,del(18)(p11.2)? ?????. ?? ? ?? ???
??? ???? ??? ??? ??? ?????, ??? ??? ?? 18p- ????
????? ?? ?????? ???? ?? ????? ??? ???? ??.
Fig. 2 Mitotic metaphase of case 1 (Lt.) and case
2 (Rt.)
Table 1. Clinical features of 18p- syndrom (from
literature)
Table 2. Cardiac pathology of 18p- syndrome (from
literature)
Author Karyotype Cardiac
pathology Coetsier et al 46,XX,18p- D-Transpo
sition pulm. stenosis Cohen et
al 45,XX,18p-,21-,t(18p21q) Patent ductus
arteriosus Faust et al 46,XX,18p- Ventricular
septal defect Giraud et al 46,XX,18p-/45,X,18p-
Patent ductus arteriosus Harlan et
al 46,XX/46,XX,18p- Congestive heart
failure Jacobsen et al 46,XY,18p- Ventricular
hypertrophy Laurent et al 46,XX,18p-
Ventricular hypertrophy Nakano et
al 46,XY,18p- Dextroversion Vailaud et
al 46,XY,18p- Aortic stenosis Pearl et
al 46,XY,18p- Tetralogy of Fallot
? ? ?? ????????? ?? ??? ??? ??? ?? ????? ????
?? 2?? 18p- ???? ?????. 18p- ???? ??? ?? ???
????? ???, ????? ??? ??? ??? ??? ???? ?? ?? ????
???? ? ????? ??? ?? ???, ?? ??? ??? ??? 18p ??
???? ?? ??? ???? ? ?? ??? ??? ? ?? ??? ????.