title: Prenatal diagnosis of de novo distal 11q deletion associated with sonographic findings of unilateral duplex renal system, pyelectasis and orofacial clefts.
abstract: In utero diagnosis of de novo distal 11q deletion associated with renal and orofacial malformations has not been previously described. We present a 35-year-old pregnant woman with prenatal sonographic findings of a unilateral duplex renal system, pyelectasis and orofacial clefts at 20 weeks' gestation. Both genetic amniocentesis and postnatal cytogenetic analysis revealed de novo 46,XX,del(11)(q23). After birth, the fetus manifested a dysmorphic phenotype correlated with del(11q) syndrome. Genetic marker analysis showed a paternally derived distal deletion of chromosome 11q and a breakpoint centromeric to D11S1341. The present case represents the earliest prenatal diagnosis of a duplex renal system, pyelectasis and an additional feature of orofacial clefts associated with distal 11q deletion. Prenatal sonographic detection of a duplex renal system, pyelectasis and orofacial clefts should warrant a careful assessment of fetal anatomy and prompt cytogenetic analysis looking for chromosomal aberrations.
authors: Department of Obstetrics and Gynecology, Mackay Memorial Hospital, Taipei, Taiwan, Republic of China. cpc_mmh@yahoo.com
authors: C P
authors: CP
authors: Chen
authors: S R
authors: SR
authors: Chern
authors: C Y
authors: CY
authors: Tzen
authors: M S
authors: MS
authors: Lee
authors: C W
authors: CW
authors: Pan
authors: T Y
authors: TY
authors: Chang
authors: W
authors: W
authors: Wang
mesh_terms: D000028:Abortion, Induced; D000328:Adult; D000649:Amniocentesis; D002880:Chromosomes, Human, Pair 11; D002972:Cleft Palate / Q000000981:diagnostic imaging* / Q000235:genetics; D020732:Cytogenetic Analysis; D004108:Dilatation, Pathologic; D005260:Female; D017353:Gene Deletion; D005865:Gestational Age; D006801:Humans; D007668:Kidney / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000196:embryology; D011247:Pregnancy; D016216:Ultrasonography, Prenatal