Miller ‐Dieker Syndrome with unbalanced translocation 45, X, psu dic(17;Y)(p13;p11.32) detected by Fluorescence in situ hybridization and G‐banding analysis using high resolution banding technique.

We report a fetus with lissencephaly diagnosed as Miller‐Dieker syndrome postnatally. G banded chromosome analysis revelaed 45,X,psu dic(17;Y)(p13;p11.32).ish dic (17;Y)(LIS1‐,RARA+, SRY+, DYZ3+) by G‐banding analysis using high resolution banding technique. Fetal delayed cortical development will be the findings to perform further investigations including FISH analysis for MDS, a 17p13.3 microdeletion syndrome, pre/postnatally. This will be the first case of MDS with unbalanced translocation between deleted short arm of chromosome 17 and Y chromosome.

Source: Congenital Anomalies - August 31, 2016 Category: Genetics & Stem Cells Authors: Takashi Mishima, Michiko Watari, Iwaki Yutaka, Takumi Nagai, Miho Kawamata ‐Nakamura, Yukako Kobayashi, Satoko Fujieda, Mamoru Oikawa, Nobuhiro Takahashi, Mitsuaki Keira, Hiroshi Yoshida, Hidefumi Tonoki Tags: Case Report Source Type: research