Cover Image

Ventriculomegaly, Intrauterine Growth Restriction, and Congenital Heart Defects as Salient Prenatal Sonographic Findings of Miller-Dieker Lissencephaly Syndrome Associated With Monosomy 17p (17p13.2 → pter) in a Fetus

Objective: To present the prenatal sonographic findings of Miller-Dieker lissencephaly syndrome (MDLS) associated with monosomy 17p (17p13.2 → pter) in a fetus. Case Report: A 25-year-old, gravida 3, para 1, woman was referred to Mackay Memorial Hospital at 36 weeks' gestation because of ventri...

Full description

Saved in:

Bibliographic Details
Main Authors:	Chih-Ping Chen (Author), Yu-Peng Liu (Author), Shaun-Pei Lin (Author), Ming Chen (Author), Fuu-Jen Tsai (Author), Yu-Ting Chen (Author), Li-Feng Chen (Author), Jonathan Kwei Hwang (Author), Wayseen Wang (Author)
Format:	Book
Published:	Elsevier, 2010-03-01T00:00:00Z.
Subjects:	article
Online Access:	Connect to this object online.
Tags:	Add Tag No Tags, Be the first to tag this record!

Similar Items

Prenatal Diagnosis of Monosomy 17p (17p 13.3 → pter) Associated With Polyhydramnios, Intrauterine Growth Restriction, Ventriculomegaly, and Miller-Dieker Lissencephaly Syndrome in a Fetus
by: Chin-Yi Lin, et al.
Published: (2009)

Prenatal diagnosis of a de novo 17p13.1 microduplication in a fetus with ventriculomegaly and lissencephaly
by: Chih-Ping Chen, et al.
Published: (2011)

Prenatal diagnosis of partial monosomy 5p (5p15.1→pter) and partial trisomy 7p (7p15.2→pter) associated with cystic hygroma, abnormal skull development, and ventriculomegaly
by: Chih-Ping Chen, et al.
Published: (2016)

Partial Trisomy 16p (16p12.2→pter) and Partial Monosomy 22q (22q13.31 →qter) Presenting With Fetal Ascites and Ventriculomegaly: Prenatal Diagnosis and Array Comparative Genomic Hybridization Characterization
by: Chih-Ping Chen, et al.
Published: (2010)

Pure partial monosomy 3p (3p25.3 → pter): Prenatal diagnosis and array comparative genomic hybridization characterization
by: Chih-Ping Chen, et al.
Published: (2012)

Prenatal diagnosis of microdeletion 16p13.11 combination with partial monosomy of 2q37.1-qter and partial trisomy of 7p15.3-pter in a fetus with bilateral ventriculomegaly, agenesis of corpus callosum, and polydactyly
by: Pi-Lin Sung, et al.
Published: (2012)

Miller-Dieker Syndrome Associated with Congenital Lobar Emphysema
by: Linda Mahgoub, et al.
Published: (2014)

Partial monosomy 13q (13q21.32→qter) and partial trisomy 8p (8p12→pter) presenting with anencephaly and increased nuchal translucency: array comparative genomic hybridization characterization
by: Chih-Ping Chen, et al.
Published: (2011)

Prenatal diagnosis and molecular cytogenetic characterization of de novo partial monosomy 3p (3p26.3→pter) and partial trisomy 16q (16q23.1→qter)
by: Chih-Ping Chen, et al.
Published: (2016)

Infantile spasms and developmental delay: A case of miller-Dieker syndrome
by: Jewel Maria George, et al.
Published: (2023)

Prenatal Diagnosis and Molecular Cytogenetic Characterization of De Novo Partial Trisomy 7p (7p15.3→pter) and Partial Monosomy 13q (13q33.3→qter) Associated With Dandy-Walker Malformation, Abnormal Skull Development and Microcephaly
by: Chih-Ping Chen, et al.
Published: (2010)

Prenatal diagnosis of partial trisomy 16p (16p12.2→pter) and partial monosomy 22q (22q13.31→qter) associated with increased nuchal translucency and abnormal maternal serum biochemistry in the first trimester
by: Chih-Ping Chen, et al.
Published: (2012)

Partial Trisomy 3p and Monosomy 7p Associated with Tetralogy of Fallot and Infantile Seizure
by: Chia-Ming Chang, et al.
Published: (2007)

Anesthetic Management and Bispectral Index in a Child with Miller-Dieker Syndrome: A Case Report
by: Sang Jin Park, et al.
Published: (2023)

Multiple occurrence of psychomotor retardation and recurrent miscarriages in a family with a submicroscopic reciprocal translocation t(7;17)(p22;p13.2)
by: Magdalena Pasińska, et al.
Published: (2018)

Monosomy 3pter-p25.3 and Trisomy 1q42.13-qter in a Boy With Profound Growth and Developmental Restriction, Multiple Congenital Anomalies, and Early Death
by: Chumei Li, et al.
Published: (2013)

De novo unbalanced translocation resulting in monosomy for distal 5p (5p14.1 → pter) and 14q (14q32.31 → qter) associated with fetal nuchal edema, microcephaly, intrauterine growth restriction, and single umbilical artery: Prenatal diagnosis and molecular cytogenetic characterization
by: Chih-Ping Chen, et al.
Published: (2013)

Prenatal diagnosis of partial monosomy 8p (8p23.2→pter) and partial trisomy 15q (15q21.2→qter) and incidental detection of a familial chromosome translocation of paternal origin in a pregnancy associated with increased nuchal translucency and an abnormal maternal serum screening result
by: Chih-Ping Chen, et al.
Published: (2021)

Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5qter and 9qter
by: Tommerup Niels, et al.
Published: (2005)

Chromosome 1p32-p31 deletion syndrome: Prenatal diagnosis by array comparative genomic hybridization using uncultured amniocytes and association with NFIA haploinsufficiency, ventriculomegaly, corpus callosum hypogenesis, abnormal external genitalia, and intrauterine growth restriction
by: Chih-Ping Chen, et al.
Published: (2011)

Lissencephaly Syndromes
by: J Gordon Millichap
Published: (1990)

Molecular cytogenetic characterization of inv dup del(8p) in a fetus associated with ventriculomegaly, hypoplastic left heart, polyhydramnios and intestinal obstruction
by: Chih-Ping Chen, et al.
Published: (2016)

Second-trimester Molecular Prenatal Diagnosis of Sporadic Apert Syndrome Following Sonographic Findings of Mild Ventriculomegaly and Clenched Hands Mimicking Trisomy 18
by: Chih-Ping Chen, et al.
Published: (2010)

A de novo partial trisomy 9p with Dandy-Walker malformation and ventriculomegaly
by: Che-Yen Kuan, et al.
Published: (2022)

Functional effects of 17alpha-hydroxyprogesterone caproate (17P) on human myometrial contractility in vitro
by: Morrison John J, et al.
Published: (2004)

Lissencephaly: Causal Heterogeneity
by: J Gordon Millichap
Published: (1992)

PET Studies of Lissencephaly
by: J Gordon Millichap
Published: (2001)

Cytomegalovirus infection with lissencephaly
by: Joseph Leena, et al.
Published: (2008)

A false-positive result at non-invasive prenatal testing due to maternal 17p12 microduplication
by: Chih-Ping Chen, et al.
Published: (2022)

Liberal trade policy and food insecurity across the income distribution: an observational analysis in 132 countries, 2014-17
by: Pepita Barlow, DPhil, et al.
Published: (2020)

Perinatal imaging findings and molecular genetic analysis of thanatophoric dysplasia type 1 in a fetus with a c.2419T>G (p.Ter807Gly) (X807G) mutation in FGFR3
by: Shin-Wen Chen, et al.
Published: (2017)

The Ultimate Salient
by: Bond, Nelson S., 1908-2006; Paul, Frank R. (Frank Rudolph), 1884-1963 [Illustrator]

Lissencephaly: Clinical and MRI Findings
by: J Gordon Millichap
Published: (1991)

Midbrain and Hindbrain Involvement in Lissencephaly
by: J Gordon Millichap
Published: (2009)

Lissencephaly: EEG and Evoked Potentials
by: J Gordon Millichap
Published: (1992)

Lissencephaly Type III Syndrome
by: J Gordon Millichap
Published: (1996)

P02.132. Repeatability of pulse diagnosis in traditional Indian Ayurveda medicine
by: Kurande V, et al.
Published: (2012)

Partial trisomy 9p and partial monosomy 7p of an infant inherited from maternal balanced translocation: a case report
by: Rui Li, et al.
Published: (2023)

<p>Tunneling connective tissue graft sebagai prosedur perawatan resesi gusi kelas I Miller</p><p>Tunnelling connective tissue graft as a treatment procedure for Miller Class I gingival recession</p>
by: Prajna Metta, et al.
Published: (2020)

Expression of P63, P16 and CK17 in Atypical Squamous Metaplasia and Cervical Intraepithelial Neoplasia
by: Maryam Iranpour, et al.
Published: (2020)