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Recurrent omphalocele with partial trisomy 3q and partial monosomy 11q
Author(s) -
Chen ChihPing,
Lee ChenChi,
Chiang ChunYu,
Town DaiDyi,
Lee MengShan,
Chen MingHong
Publication year - 1997
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1997.tb02546.x
Subject(s) - china , omphalocele , medicine , section (typography) , obstetrics and gynaecology , library science , history , pregnancy , biology , computer science , fetus , genetics , archaeology , operating system
To the Editor: Omphalocele is not an uncommon malformation; however, it usually occurs sporadically with less than a 1% recurrence risk (Winter & Baraitser 1991 ). We present recurrence of omphalocele in siblings with partial trisomy 3q and partial monosomy 1 lq as the unbalanced product of a t (3; 1 1 ) (q21;q23)mat. This was the fourth pregnancy of an unrelated couple. The mother had one healthy 5-year-old daughter, one miscarriage and one stillbirth with omphalocele. The mother had a balanced reciprocal translocation: 46,XX,t(3;1 l)(q21;q23) (Fig. 1 ). The father had a 46,XY karyotype. Their previms stillbirth demonstrated an omphalocele in combination with an abnormal chromosome complement of 46,XX,der( 1 l),t(3;1 l)(q21;q23)mat. In this pregnancy, an omphalocele containing the liver, short limbs and intrauterine growth retardation were observed at 18 weeks' gestation. Amniocentesis further revealed an abnormal karyotype with partial trisomy 3q and partial monosomy 1 lq as the unbal-