Chromosomal abnormalities associated with neural tube defects (II): partial aneuploidy (Q37053299)

17 August 2017

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title

Chromosomal abnormalities associated with neural tube defects (II): partial aneuploidy (English)

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17 August 2017

Chih-Ping Chen

1

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17 August 2017

1 December 2007

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Taiwanese Journal of Obstetrics & Gynecology

17 August 2017

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17 August 2017

46

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17 August 2017

4

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17 August 2017

336-351

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Familial partial trisomy of the long arm of chromosome 3 (3q)

17 August 2017

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

A fetus with a chromosome 13 ring and placenta with chromosome 13 rod/ring mosaicism

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Fetal karyotype following ascertainment of fetal anomalies by ultrasound

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Ring chromosome 13: lack of distinct syndromes based on different breakpoints on 13q

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Preliminary definition of a "critical region" of chromosome 13 in q32: report of 14 cases with 13q deletions and review of the literature.

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Mosaic r(13) in an infant with aprosencephaly

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Prenatal diagnosis of mosaic ring chromosome 13 with anencephaly

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Prenatally diagnosed neural tube defects: ultrasound, chromosome, and autopsy or postnatal findings in 212 cases

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Neural tube defects and the 13q deletion syndrome: evidence for a critical region in 13q33-34.

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Lack of association between ZIC2 and ZIC3 genes and the risk of neural tube defects (NTDs) in Hispanic populations

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Genetic variants inZIC1,ZIC2, andZIC3 are not major risk factors for neural tube defects in humans

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Mouse Zic5 deficiency results in neural tube defects and hypoplasia of cephalic neural crest derivatives

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Cdx2 is essential for axial elongation in mouse development

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Presumptive direct insertion within chromosome 2 in man

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

The 2p partial trisomy syndrome. Duplication of region 2p23 leads to 2pter in two members of a t(2;7) translocation kindred

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

The chromosome 2 distal short arm trisomy syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Variable phenotype associated with duplication of different regions of 2p.

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

The value of chromosome analysis in cases of neural tube defects: a case of anencephaly associated with fetal dup(2)(p24----pter)

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

A report of recurrent anencephaly with trisomy 2p23-2pter: additional evidence for the involvement of 2p24 in neural tube development and evaluation of the role for cytogenetic analysis

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Trisomy 2p syndrome: a fetus with anencephaly and postaxial polydactyly

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Regarding trisomy 2p syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Partial duplication 2p as the sole abnormality in two cases with anencephaly

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Trisomy 2p: analysis of unusual phenotypic findings

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Neuronal patterning by BMPs: a requirement for GDF7 in the generation of a discrete class of commissural interneurons in the mouse spinal cord

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Partial deletion of chromosome 2 mimicking a phenotype of trisomy 18: case report with autopsy

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Interstitial deletion of chromosome 2 region in a malformed infant

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Small interstitial deletion of the long arm of chromosome 2 (2q24.3): further delineation of 2q medial monosomy syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Myelomeningocele and Waardenburg syndrome (type 3) in patients with interstitial deletions of 2q35 and the PAX3 gene: possible digenic inheritance of a neural tube defect

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Waardenburg I syndrome: a clinical and genetic study of two large Brazilian kindreds, and literature review

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Waardenburg syndrome and meningocele

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Waardenburg syndrome associated with meningomyelocele

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Waardenburg syndrome and myelomeningocele in a family

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Waardenburg syndrome and meningomyelocele

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Possible homozygous Waardenburg syndrome in a fetus with exencephaly

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

A frameshift mutation in the gene for PAX3 in a girl with spina bifida and mild signs of Waardenburg syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Prenatal diagnosis and genetic counseling in a case of spina bifida in a family with Waardenburg syndrome type I

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Molecular cytogenetic characterization of multiple intrachromosomal rearrangements of chromosome 2q in a patient with Waardenburg's syndrome and other congenital defects

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

High-density single nucleotide polymorphism screen in a large multiplex neural tube defect family refines linkage to loci at 7p21.1-pter and 2q33.1-q35.

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Interstitial deletion of the long arm of chromosome 1 [del(1)(q32q42)].

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Interstitial deletion of chromosome 1q [del(1)(q24q25.3)] identified by fluorescence in situ hybridization and gene dosage analysis of apolipoprotein A-II, coagulation factor V, and antithrombin III.

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Prenatal diagnosis of complete sole trisomy 1q.

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Syndromic encephalocele in a fetal case with a 1p35-pter deletion and a 14q32-qter duplication inherited from a maternal balanced translocation

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Prevalence of encephalocele in Texas, 1999-2002

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

A fetus with partial trisomy 3 (p21-pter) detected by prenatal diagnosis

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Brief clinical report: neural tube defects in dup(11q)

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Deletion 3q27----3qter in an infant with mild dysmorphism, parietal meningocele, and neonatal miliaria rubra-like lesions

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Inverted duplication of the distal short arm of chromosome 3 associated with lobar holoprosencephaly and lumbosacral meningomyelocele

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

OEIS complex with del(3)(q12.2q13.2)

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

A novel splice variant of the cell adhesion molecule contactin 4 ( CNTN4) is mainly expressed in human brain

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

In silico-initiated cloning and molecular characterization of a novel human member of the L1 gene family of neural cell adhesion molecules

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

"Pure" partial trisomy 4q25-qter owing to a de novo 4;22 translocation

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

A girl with del(4)(q33) and occipital encephalocele: clinical description and molecular genetic characterization of a rare patient.

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Deletion 4q21/4q22 syndrome: two patients with de novo 4q21.3q23 and 4q13.2q23 deletions

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Cloning and expressions of three mammalian homologues of Drosophila slit suggest possible roles for Slit in the formation and maintenance of the nervous system

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Identification of human cadherin-14, a novel neurally specific type II cadherin, by protein interaction cloning

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Identification of the vertebrate Iroquois homeobox gene family with overlapping expression during early development of the nervous system

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Partial trisomy 6q, due to balanced maternal translocation (6;22) (q21; p13) or (q21; pter)

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Neural tube, skeletal and body wall defects in mice lacking transcription factor AP-2

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Characterization of the human jumonji gene

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Partial trisomy of the short arm of chromosome 7 due to a familial translocation rcp(7;14)(p11;p11)

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Terminal deletions of the long arm of chromosome 7: five new cases

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Terminal deletion of the chromosome 7(q36-qter) in an infant with sacral agenesis and anterior myelomeningocele

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Autosomal dominant sacral agenesis: Currarino syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly.

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Partial trisomy 8q in half-sisters with distinct dysmorphic patterns not similar to the trisomy 8 mosaicism syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Clinicopathologic and dysmorphic findings in recombinant chromosome 8 syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Familial t(11;13)(q21;q14) and the duplication 11q, 13q phenotype

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Genomic organization of the human folate receptor genes on chromosome 11q13

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Folate pathway gene alterations in patients with neural tube defects

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

A gene for Meckel syndrome maps to chromosome 11q13.

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Barx2, a new homeobox gene of the Bar class, is expressed in neural and craniofacial structures during development

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Six years' experience with rapid karyotyping in prenatal diagnosis: correlations between phenotype detected by ultrasound and fetal karyotype

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Duplication 16q12.1–q22.1 characterized by array CGH in a girl with spina bifida

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Chromosome 18q22.2-->qter deletion and a congenital anomaly syndrome with multiple vertebral segmentation defects

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

A ring chromosome (No. 18) in a cyclops

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Anencephaly with holoprosencephalic facies due to ring chromosome 18.

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Prenatal diagnosis of occipital encephalocele, mega-cisterna magna, mesomelic shortening, and clubfeet associated with pure tetrasomy 20p

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Interaction between undulated and Patch leads to an extreme form of spina bifida in double-mutant mice.

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Velo-cardio-facial syndrome and DiGeorge sequence with meningomyelocele and deletions of the 22q11 region

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Kousseff syndrome caused by deletion of chromosome 22q11-13

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Microdeletion 22q11.2, Kousseff syndrome and spina bifida

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Kousseff syndrome: a causally heterogeneous disorder.

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Autosomal recessive syndrome of sacral and conotruncal developmental field defects (Kousseff syndrome).

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Multiple functions of segment polarity genes in Drosophila

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Isolation and characterization of a human gene containing a nuclear localization signal from the critical region for velo-cardio-facial syndrome on 22q11

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Terminal deletion of Xp in a dysmorphic anencephalic fetus

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Identification and characterization of an Xq26-q27 duplication in a family with spina bifida and panhypopituitarism suggests the involvement of two distinct genes.

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Neural tube defects as an X-linked condition

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Exclusion mapping of the gene for X-linked neural tube defects in an Icelandic family

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Linkage analysis of 62 X-chromosomal loci excludes the X chromosome in an Icelandic family showing apparent X-linked recessive inheritance of neural tube defects

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Candidate gene analysis in human neural tube defects

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

Toward understanding the genetic basis of neural tube defects.

1 reference

https://api.crossref.org/works/10.1016%2FS1028-4559%2808%2960003-0

7 January 2021

10.1016/S1028-4559(08)60003-0

Identifiers

DOI

1 reference

17 August 2017

1 reference

PubMed ID

18182339