Item Type | Name |
Concept
|
Chromosome Aberrations
|
Concept
|
Chromosome Banding
|
Concept
|
Chromosome Deletion
|
Concept
|
Chromosomes, Human, Pair 10
|
Concept
|
Chromosomes, Human, Pair 12
|
Concept
|
Chromosomes, Human, Pair 13
|
Concept
|
Chromosomes, Human, Pair 14
|
Concept
|
Chromosomes, Human, Pair 18
|
Concept
|
Chromosomes, Human, Pair 2
|
Concept
|
Chromosomes, Human, Pair 20
|
Concept
|
Chromosomes, Human, Pair 21
|
Concept
|
Chromosomes, Human, Pair 22
|
Concept
|
Chromosomes, Human, Pair 3
|
Concept
|
Chromosomes, Human, Pair 8
|
Concept
|
Chromosome Inversion
|
Concept
|
Sex Chromosome Aberrations
|
Concept
|
X Chromosome
|
Concept
|
Chromosome Disorders
|
Academic Article
|
Chromosomal abnormalities among 246 fetuses with pleural effusions detected on prenatal ultrasound examination: factors associated with an increased risk of aneuploidy.
|
Academic Article
|
Mosaic paternal uniparental (iso)disomy for chromosome 20 associated with multiple anomalies.
|
Academic Article
|
Prospective study of 22q11 deletion analysis in fetuses with excess nuchal translucency.
|
Academic Article
|
Fetal pyelectasis: does fetal gender modify the risk of major trisomies?
|
Academic Article
|
Complete trisomy 21 vs translocation Down syndrome: a comparison of modes of ascertainment.
|
Academic Article
|
Prenatal diagnosis of a jumping translocation.
|
Academic Article
|
Prenatal diagnosis of an unexpected interstitial 22q11.2 deletion causing truncus arteriosus and thymic hypoplasia in a ring 22 chromosome derived from a maternally inherited paracentric inversion.
|
Academic Article
|
The risk of a major trisomy in fetuses with pyelectasis: the impact of an abnormal maternal serum screen or additional sonographic markers.
|
Academic Article
|
Trizygotic dichorionic triplets with 46,XX/46,XY chimerism in both fetuses of the monochorionic pair.
|
Academic Article
|
Risk and benefit analysis of offering karyotyping for an isolated choroid plexus cyst.
|
Academic Article
|
Melnick-Needles syndrome in males: a lethal multiple congenital anomalies syndrome.
|
Academic Article
|
Sonographic findings in fetuses with common chromosome abnormalities.
|
Academic Article
|
Molecular characterization of de novo secondary trisomy 13.
|
Academic Article
|
Trisomy 20 mosaicism in amniotic fluid culture.
|
Academic Article
|
Prenatal sonographic detection of isolated fetal choroid plexus cysts: should we screen for trisomy 18?
|
Academic Article
|
A second report of normal outcome with mosaic isochromosome 20q found on amniocentesis.
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Academic Article
|
Ultrasound-adjusted risk and spectrum of fetal chromosomal abnormality in women with elevated maternal serum alpha-fetoprotein.
|
Academic Article
|
Significance of mosaic isochromosome 20q on amniocentesis.
|
Academic Article
|
De novo 2q+ masquerading as Smith-Lemli-Opitz syndrome.
|
Academic Article
|
Prenatal diagnosis of the derivative chromosome 22 associated with cat eye syndrome by fluorescence in situ hybridization.
|
Academic Article
|
Microphthalmia and chorioretinal lesions in a girl with an Xp22.2-pter deletion and partial 3p trisomy: clinical observations relevant to Aicardi syndrome gene localization.
|
Academic Article
|
De novo inverted interstitial ("mirror") duplication of chromosome 8(q13----q24.1) in a liveborn male.
|
Academic Article
|
Tissue-specific mosaicism among fetuses with prenatally diagnosed diaphragmatic hernia.
|
Academic Article
|
Clinical, cytogenetic, and pedigree findings in 18 cases of Aicardi syndrome.
|