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Partial trisomy 8q and partial monosomy 15q associated with congenital hydrocephalus, diaphragmatic hernia, uinary tract anomalies, congenital heart defect and kyphoscoliosis
Author(s) -
Chen ChihPing,
Lee ChenChi,
Pan ChenWen,
Kir TwanYin,
Chen BeFong
Publication year - 1998
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/(sici)1097-0223(199812)18:12<1289::aid-pd432>3.0.co;2-y
Subject(s) - ventriculomegaly , diaphragmatic hernia , medicine , kyphoscoliosis , monosomy , omphalocele , partial trisomy , horseshoe kidney , prenatal diagnosis , trisomy , hypoplasia , pregnancy , fetus , hernia , scoliosis , surgery , kidney , chromosome , biology , karyotype , genetics , gene
We describe perinatal findings in a female fetus with partial trisomy 8q(8q24.1→8qter) and partial monosomy 15q(15q26.1→15qter) resulting from a paternal t(8;15) reciprocal translocation. Prenatal sonographic examination showed intra‐uterine growth retardation, bilateral ventriculomegaly, cardiomegaly with arrhythmia, anhydramnios, and absent kidney and urinary bladder images. The pregnancy was terminated at 28 weeks of gestation. At birth, the infant manifested typical dysmorphic features of partial trisomy 8q. Necropsy further revealed hydrocephalus, congenital diaphragmatic hernia, ventricular septal defect, a horseshoe kidney with renal hypoplasia, and kyphoscoliosis. Our case shows that the coexistence of partial trisomy 8q24.1→8qter and partial mono‐somy 15q26.1→15qter are more detrimental than either defect alone and can result in a complex of major malformations. Prenatal ultrasound examination and cytogenetic assessment should be offered in subsequent pregnancies. Copyright © 1998 John Wiley & Sons, Ltd.