Non-fluorescent Y chromosome in a 45,X-46,XY mosaic

Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 children with neurodevelopmental disorders and/or multiple congenital anomalies.

Italian journal of pediatrics·2018

Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH.

Clinical genetics·2017

A patient with partial trisomy 21 and 7q deletion expresses mild Down syndrome phenotype.

Gene·2013

De novo 15.5-Mb Interstitial Deletion in 5p in a Male Ascertained by Oligospermia.

Molecular syndromology·2013

Partial trisomy 2p and partial monosomy 2q arising from a paternal intrachromosomal 2q-into-2p between-arm insertion and paracentric inversion: molecular cytogenetic characterization of a four-break rearrangement.

Cytogenetic and genome research·2013

Agenesis of internal carotid artery and hypopituitarism: case report and review of literature.

The Journal of clinical endocrinology and metabolism·2012

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

Preliminary Psychometric Evaluation of the Arabic Trichotillomania Dimensional Scale (TTM-D) in an Online Convenience Sample From Five Arab Countries.

Health science reports·2026

Epigastric Heteropagus Twin in a Term Neonate: Early Diagnosis, Multidisciplinary Separation, and Favorable Outcome: A Case Report.

European journal of pediatric surgery reports·2026

Paucisymptomatic opisthorchiasis in a non-endemic country: a neglected differential diagnosis?

Infection·2026

Retropharyngeal Ectopic Thyroid Found Histologically in Late-Term Fetuses: A Case Report With an Embryological Study.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·2026

Neuroangiostrongyliasis (Rat Lungworm Disease) in a Philippine Tertiary Center: Clinical experience, diagnostic challenges and review of literature.

IDCases·2026

Unilateral Hypoplasia of the Trapezius Muscle in a Female Cadaver.

Cureus·2026

Related Experiment Videos

Non-fluorescent Y chromosome in a 45,X-46,XY mosaic

Related Concept Videos

Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 children with neurodevelopmental disorders and/or multiple congenital anomalies.

Diagnostic application of a capture based NGS test for the concurrent detection of variants in sequence and copy number as well as LOH.

A patient with partial trisomy 21 and 7q deletion expresses mild Down syndrome phenotype.

De novo 15.5-Mb Interstitial Deletion in 5p in a Male Ascertained by Oligospermia.

Partial trisomy 2p and partial monosomy 2q arising from a paternal intrachromosomal 2q-into-2p between-arm insertion and paracentric inversion: molecular cytogenetic characterization of a four-break rearrangement.

Agenesis of internal carotid artery and hypopituitarism: case report and review of literature.

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.

Preliminary Psychometric Evaluation of the Arabic Trichotillomania Dimensional Scale (TTM-D) in an Online Convenience Sample From Five Arab Countries.

Epigastric Heteropagus Twin in a Term Neonate: Early Diagnosis, Multidisciplinary Separation, and Favorable Outcome: A Case Report.

Paucisymptomatic opisthorchiasis in a non-endemic country: a neglected differential diagnosis?

Retropharyngeal Ectopic Thyroid Found Histologically in Late-Term Fetuses: A Case Report With an Embryological Study.

Neuroangiostrongyliasis (Rat Lungworm Disease) in a Philippine Tertiary Center: Clinical experience, diagnostic challenges and review of literature.

Unilateral Hypoplasia of the Trapezius Muscle in a Female Cadaver.

Related Experiment Videos

Non-fluorescent Y chromosome in a 45,X-46,XY mosaic

Related Concept Videos

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