Filters

Term Search
You can select from the dropdown list OR enter your own terms to refine the search.

Last Updated: 01/07/2026

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 15 publications

A Case of Inherited t(4;10)(q26;q26.2) Chromosomal Translocation Elucidated by Multiple Chromosomal and Molecular Analyses. Case Report and Review of the Literature.

A Case of Inherited t(4;10)(q26;q26.2) Chromosomal Translocation Elucidated by Multiple Chromosomal and Molecular Analyses. Case Report and Review of the Literature.

Journal: Genes
Published: November 04, 2021

Clinical, cytogenetic, and molecular findings in a fetus with ultrasonic multiple malformations, 4q duplication, and 7q deletion: A case report and literature review.

Clinical, cytogenetic, and molecular findings in a fetus with ultrasonic multiple malformations, 4q duplication, and 7q deletion: A case report and literature review.

Journal: Medicine
Published: November 09, 2018

MYOCLONIC ASTATIC EPILEPSY IN A PATIENT WITH A DE NOVO 4q21.22q21.23 MICRODUPLICATION.

MYOCLONIC ASTATIC EPILEPSY IN A PATIENT WITH A DE NOVO 4q21.22q21.23 MICRODUPLICATION.

Journal: Genetic counseling (Geneva, Switzerland)
Published: December 03, 2015

A very rare case of trisomy 4q32.3-4q35.2 and trisomy 21q11.2-21q22.11 in a patient with recombinant chromosomes 4 and 21.

A very rare case of trisomy 4q32.3-4q35.2 and trisomy 21q11.2-21q22.11 in a patient with recombinant chromosomes 4 and 21.

Journal: Gene
Published: October 06, 2014

The Hand2 gene dosage effect in developmental defects and human congenital disorders.

The Hand2 gene dosage effect in developmental defects and human congenital disorders.

Journal: Current topics in developmental biology
Published: September 25, 2014

Pure partial trisomy 4q syndrome in a child with der(9)ins(9;4)(q34.3;q26q35.2)mat.

Pure partial trisomy 4q syndrome in a child with der(9)ins(9;4)(q34.3;q26q35.2)mat.

Journal: Genetic counseling (Geneva, Switzerland)
Published: May 03, 2014

De novo partial trisomy distal 4q: a case report.

De novo partial trisomy distal 4q: a case report.

Journal: Genetic counseling (Geneva, Switzerland)
Published: January 01, 2014

Case report: partial trisomy 4q27q35 syndrome.

Case report: partial trisomy 4q27q35 syndrome.

Journal: Genetic counseling (Geneva, Switzerland)
Published: January 01, 2014

Molecular characterization of distal 4q duplication in two patients using oligonucleotide array-based comparative genomic hybridization (oaCGH) analysis.

Molecular characterization of distal 4q duplication in two patients using oligonucleotide array-based comparative genomic hybridization (oaCGH) analysis.

Journal: American journal of medical genetics. Part A
Published: August 29, 2013

Possible responsibility of EDNRA gene triplication, coding for the endothelin 1 ET-A receptor in a case of congenital diaphragmatic hernia

Possible responsibility of EDNRA gene triplication, coding for the endothelin 1 ET-A receptor in a case of congenital diaphragmatic hernia

Journal: Journal de gynecologie, obstetrique et biologie de la reproduction
Published: August 09, 2013

Overdosage of Hand2 causes limb and heart defects in the human chromosomal disorder partial trisomy distal 4q.

Overdosage of Hand2 causes limb and heart defects in the human chromosomal disorder partial trisomy distal 4q.

Journal: Human molecular genetics
Published: March 02, 2013

Pathogenesis of congenital diaphragmatic hernia: additional clues regarding the involvement of the endothelin system.

Pathogenesis of congenital diaphragmatic hernia: additional clues regarding the involvement of the endothelin system.

Journal: American journal of medical genetics. Part A
Published: January 23, 2013
Showing 1-12 of 15

Last Updated: 01/07/2026