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.


: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.


Congenit Anom (Kyoto)


Congenital anomalies


Mishima T,Watari M,Iwaki Y,Nagai T,Kawamata-Nakamura M,Kobayashi Y,Fujieda S,Oikawa M,Takahashi N,Keira M,Yoshida H,Tonoki H




Has Abstract


2017-03-01 00:00:00












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    journal_title:Congenital anomalies

    pub_type: 杂志文章,评审


    authors: Higuchi Y,Shiraki N,Kume S

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  • Alteration in anxiety-related behaviors and reduction of serotonergic neurons in raphe nuclei in adult rats prenatally exposed to ethanol.

    abstract::It is known that the developing serotonergic system is one of the targets of ethanol teratogenicity. Because serotonin has multiple functions in both mature and immature brains, disturbance of the serotonergic system by ethanol exposure in utero can be cause of a wide range of psychiatric problems in adulthood. In the...

    journal_title:Congenital anomalies

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    authors: Ohta K,Sakata-Haga H,Fukui Y

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  • Congenital diseases and semaphorin signaling: overview to date of the evidence linking them.

    abstract::Semaphorins and their receptors, neuropilins and plexins, were initially characterized as a modulator of axonal guidance during development, but are now recognized as a regulator of a wide range of developmental events including morphogenesis and angiogenesis, and activities of the immune system. Owing to the developm...

    journal_title:Congenital anomalies

    pub_type: 杂志文章,评审


    authors: Masuda T,Taniguchi M

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  • Precurrence risk of birth defects in Hawaii.

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    journal_title:Congenital anomalies

    pub_type: 杂志文章


    authors: Forrester MB,Merz RD

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  • Towards the understanding of Down syndrome using mouse models.

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    journal_title:Congenital anomalies

    pub_type: 杂志文章,评审


    authors: Yamakawa K

    更新日期:2012-06-01 00:00:00

  • Prenatal findings of omphalocele-exstrophy of the bladder-imperforate anus-spinal defects (OEIS) complex.

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    journal_title:Congenital anomalies

    pub_type: 杂志文章


    authors: Goto S,Suzumori N,Obayashi S,Mizutani E,Hayashi Y,Sugiura-Ogasawara M

    更新日期:2012-09-01 00:00:00

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    authors: Rana R,Pasrija S,Puri M

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  • Severe upper airway stenosis in a boy with partial monosomy 16p13.3pter and partial trisomy 16q22qter.

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    pub_type: 杂志文章,评审


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    pub_type: 杂志文章


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  • Trichorhinophalangeal syndrome type II without the chromosome 8 deletion that resembled metachondromatosis.

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    pub_type: 杂志文章


    authors: Kikuchi N,Ogino T,Kashiwa H,Muragaki Y

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    pub_type: 杂志文章


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    pub_type: 杂志文章


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    pub_type: 杂志文章,评审


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    journal_title:Congenital anomalies



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    pub_type: 杂志文章


    authors: Kosaki R,Hanai S,Kakishima H,Okada MA,Hayashi S,Ito Y,Takahashi T,Kosaki K,Okuyama T

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    pub_type: 杂志文章,评审


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    journal_title:Congenital anomalies

    pub_type: 杂志文章,评审


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    pub_type: 杂志文章,评审


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    journal_title:Congenital anomalies

    pub_type: 杂志文章


    authors: Nagai M,Minegishi K,Komada M,Tsuchiya M,Kameda T,Yamada S

    更新日期:2016-05-01 00:00:00

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    journal_title:Congenital anomalies

    pub_type: 杂志文章,评审


    authors: Tabata Y

    更新日期:2004-09-01 00:00:00

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    journal_title:Congenital anomalies

    pub_type: 杂志文章,评审


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    更新日期:2012-03-01 00:00:00

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    journal_title:Congenital anomalies

    pub_type: 杂志文章


    authors: Yamamoto-Shimojima K,Kouwaki M,Kawashima Y,Itomi K,Momosaki K,Ozasa S,Okamoto N,Yokochi K,Yamamoto T

    更新日期:2019-09-01 00:00:00

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    journal_title:Congenital anomalies

    pub_type: 杂志文章,评审


    authors: Kitamura A,Miyauchi N,Hamada H,Hiura H,Chiba H,Okae H,Sato A,John RM,Arima T

    更新日期:2015-08-01 00:00:00

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    journal_title:Congenital anomalies

    pub_type: 杂志文章


    authors: Kosaki R,Higuchi M,Mitsui N,Matsushima K,Ohashi H,Kosaki K

    更新日期:2005-03-01 00:00:00

  • Magnetic resonance imaging based correlation analysis between calcarine sulcus development and isolated fetal ventriculomegaly.

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    journal_title:Congenital anomalies

    pub_type: 杂志文章


    authors: Li H,Liang H,Wu H

    更新日期:2017-03-01 00:00:00

  • Bifid choroid plexus: always a normal fetal brain structure variant?

    abstract::Choroid plexus, a fetal organ developing approximately from the sixth week of gestation, plays a fundamental role in developing fetal brain organization. As relatively little is known about the relationship between anomalies of choroid plexuses structure and their role in brain function, we examined cases of bifid cho...

    journal_title:Congenital anomalies

    pub_type: 杂志文章


    authors: Centini G,Imperatore A,Morelli M,Rosignoli L,Passamonti U,Caprioli F,Lituania M

    更新日期:2013-06-01 00:00:00