46,XY 47,XY,+17P+ MOSAICISM IN AMNIOCYTES ASSOCIATED WITH FETAL ABNORMALITIES DESPITE NORMAL FETAL BLOOD KARYOTYPE/

Authors
KINGSTON HM NICOLINI U HASLAM J ANDREWS T
Citation
Hm. Kingston et al., 46,XY 47,XY,+17P+ MOSAICISM IN AMNIOCYTES ASSOCIATED WITH FETAL ABNORMALITIES DESPITE NORMAL FETAL BLOOD KARYOTYPE/, Prenatal diagnosis, 13(7), 1993, pp. 637-642
Citations number
31
Categorie Soggetti
Obsetric & Gynecology
Journal title
Prenatal diagnosis → ACNP
ISSN journal
01973851
Volume
13
Issue
7
Year of publication
1993
Pages
637 - 642
Database
ISI
SICI code
0197-3851(1993)13:7<637:44MIAA>2.0.ZU;2-8
Abstract
46,XY/47,XY,+17p+ mosaicism was found in two primary amniotic fluid cu ltures (AFCs). Fetal blood karyotype was normal, but ultrasonography r evealed Dandy-Walker malformation and bilateral choroid plexus cysts. Following termination of pregnancy, fetal examination revealed post-ax ial polydactyly and neuroblastoma-in-situ affecting both adrenals in a ddition to the cerebellar abnormalities. Mosaicism for the aberrant ce ll line was confirmed in all fetal tissues sampled and in the placenta .