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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
Author(s) -
Mishima Takashi,
Watari Michiko,
Iwaki Yutaka,
Nagai Takumi,
KawamataNakamura Miho,
Kobayashi Yukako,
Fujieda Satoko,
Oikawa Mamoru,
Takahashi Nobuhiro,
Keira Mitsuaki,
Yoshida Hiroshi,
Tonoki Hidefumi
Publication year - 2017
Publication title -
congenital anomalies
Language(s) - English
Resource type - Journals
eISSN - 1741-4520
pISSN - 0914-3505
DOI - 10.1111/cga.12193
Subject(s) - lissencephaly , fluorescence in situ hybridization , biology , chromosomal translocation , anatomy , pathology , chromosome , genetics , medicine , gene
Lissencephaly is one of the central nervous system anomalies of Miller‐Dieker Syndrome (MDS). Fetuses with lissencephaly have an abnormal smooth brain with fewer folds and grooves that will be detected by ultrasounds or fetal magnetic resonance imaging (MRI) after 30 weeks of gestation. We report a fetus with lissencephaly diagnosed as Miller‐Dieker Syndrome postnatally. G banded chromosome analysis revealed 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 fluorescence in situ hybridization 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.