Open AccessPrenatal diagnosis of a 46, XX male following noninvasive prenatal testing
Author(s) -
Mansfield Nerida,
Boogert Tom,
McLennan Andrew
Publication year - 2015
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.352
Subject(s) - medicine , chromosomal translocation , prenatal diagnosis , fish <actinopterygii> , microarray , chromosome , fetus , karyotype , gynecology , obstetrics , genetics , andrology , pregnancy , gene , biology , gene expression , fishery
Key Clinical message Case report involving a normal female by NIPT with male external genitalia on routine fetal morphology assessment. QF ‐ PCR , CGH microarray, and FISH revealed an unbalanced translocation, involving the short arms of the X and Y chromosomes. This case demonstrates the possible limitations of correctly identifying sex chromosome abnormalities via NIPT .