Trisomy 20p from maternal translocation and anencephaly. Case report and genetic review

FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletions.

Human mutation·2010

[Holt-Oram syndrome: characterization of a novel mutation].

Anales de pediatria (Barcelona, Spain : 2003)·2006

Euchromatic variant 16p+. Implications in prenatal diagnosis.

Prenatal diagnosis·2006

MLPA vs multiprobe FISH: comparison of two methods for the screening of subtelomeric rearrangements in 50 patients with idiopathic mental retardation.

Clinical genetics·2006

Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndrome.

Clinical genetics·2005

Tetrasomy 8p: discordance of amniotic fluid and blood karyotypes.

American journal of medical genetics. Part A·2003

Intranuclear arrangement of human chromosome 12 is reflected in metaphase chromosomes as non-random bending.

Annales de genetique·2004

Trisomy 4 associated with double minute chromosomes and MYC amplification in acute myeloblastic leukemia.

Annales de genetique·2004

Large duplication 4q25-q34 with mild clinical effect.

Annales de genetique·2004

A submicroscopic unbalanced subtelomeric translocation t(2p;10q) identified by fluorescence in situ hybridization: fetus with increased nuchal translucency and normal standard karyotype with later growth and developmental delay, rhombencephalosynapsis (RES).

Annales de genetique·2004

Partial trisomy 8q and partial monosomy 18p: a case report.

Annales de genetique·2004

Partial trisomy 18q11.2-->qter due to de novo unbalanced translocation of chromosomes 15 and 18 analyzed by fluorescence in situ hybridization.

Annales de genetique·2004

Genotype-phenotypic correlation in a Chinese patient with isolated lissencephaly sequence caused by 17p13.3p13.2 chromosomal microdeletion: a 6-year follow-up study.

Frontiers in genetics·2026

GRIA3 Duplication at Xq25 in a Young Adult Male With Profound Intellectual Disability and Morbid Obesity: A Case Report.

Case reports in genetics·2026

Leveraging Long-Read Sequencing to Bridge the Diagnostic and Equity Gaps in Differences of Sex Development (DSD).

The Journal of clinical endocrinology and metabolism·2026

Progenitor Timing Shapes NG2-Glia Fate and Oligodendrocyte Differentiation.

Glia·2026

Fraternal Birth Order Effect and Other Sibship Effects in Bisexual and Asexual Men and Women.

Archives of sexual behavior·2026

Correlation analysis of cognitive dysfunction and fluctuations in serum fibroblast growth factor 21 (FGF21) levels in the overweight group.

Journal of medical biochemistry·2026

Related Experiment Videos

Trisomy 20p from maternal translocation and anencephaly. Case report and genetic review

Related Concept Videos

FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletions.

[Holt-Oram syndrome: characterization of a novel mutation].

Euchromatic variant 16p+. Implications in prenatal diagnosis.

MLPA vs multiprobe FISH: comparison of two methods for the screening of subtelomeric rearrangements in 50 patients with idiopathic mental retardation.

Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndrome.

Tetrasomy 8p: discordance of amniotic fluid and blood karyotypes.

Intranuclear arrangement of human chromosome 12 is reflected in metaphase chromosomes as non-random bending.

Trisomy 4 associated with double minute chromosomes and MYC amplification in acute myeloblastic leukemia.

Large duplication 4q25-q34 with mild clinical effect.

A submicroscopic unbalanced subtelomeric translocation t(2p;10q) identified by fluorescence in situ hybridization: fetus with increased nuchal translucency and normal standard karyotype with later growth and developmental delay, rhombencephalosynapsis (RES).

Partial trisomy 8q and partial monosomy 18p: a case report.

Partial trisomy 18q11.2-->qter due to de novo unbalanced translocation of chromosomes 15 and 18 analyzed by fluorescence in situ hybridization.

Genotype-phenotypic correlation in a Chinese patient with isolated lissencephaly sequence caused by 17p13.3p13.2 chromosomal microdeletion: a 6-year follow-up study.

GRIA3 Duplication at Xq25 in a Young Adult Male With Profound Intellectual Disability and Morbid Obesity: A Case Report.

Leveraging Long-Read Sequencing to Bridge the Diagnostic and Equity Gaps in Differences of Sex Development (DSD).

Progenitor Timing Shapes NG2-Glia Fate and Oligodendrocyte Differentiation.

Fraternal Birth Order Effect and Other Sibship Effects in Bisexual and Asexual Men and Women.

Correlation analysis of cognitive dysfunction and fluctuations in serum fibroblast growth factor 21 (FGF21) levels in the overweight group.

Related Experiment Videos

Trisomy 20p from maternal translocation and anencephaly. Case report and genetic review

Abstract:

Related Concept Videos

Related Articles