Customize your search results with filters
Term Search
You can select from the dropdown list OR enter your own terms to refine the search.
Last Updated: 03/06/2025
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 33 publications
Supernumerary chromosome 6 marker associated with paternal uniparental isodisomy of chromosome 6 in a patient with a syndromic disorder of insulin secretion.
Journal: European journal of medical genetics
Published: March 21, 2023
De Novo Mosaic 6p23-p25.3 Tetrasomy Caused by a Small Supernumerary Marker Chromosome Presenting Trisomy Distal 6p Phenotype: A Case Report and Literature Review.
Journal: Diagnostics (Basel, Switzerland)
Published: September 03, 2022
Perinatal diagnosis of a fetus with an unbalanced translocation 46,XY,der(10)t(6;10)(p22;q26.1) with multiple malformations:a case report and literature review.
Journal: Fukushima journal of medical science
Published: May 17, 2021
An Adolescent with a Rare De Novo Distal Trisomy 6p and Distal Monosomy 6q Chromosomal Combination.
Journal: Case reports in genetics
Published: April 15, 2020
Brachydactyly type E in an Italian family with 6p25 trisomy.
Journal: European journal of medical genetics
Published: August 18, 2016
Glomerulopathy in patients with distal duplication of chromosome 6p.
Journal: BMC nephrology
Published: June 23, 2015
A case of partial 1p36.1 deletion and partial trisomy 6p diagnosed by karyotype
Journal: Revista chilena de pediatria
Published: May 20, 2015
Renal complications in 6p duplication syndrome: microarray-based investigation of the candidate gene(s) for the development of congenital anomalies of the kidney and urinary tract (CAKUT) and focal segmental glomerular sclerosis (FSGS).
Journal: American journal of medical genetics. Part A
Published: May 03, 2014
Karyotype-phenotype correlation in partial trisomies of the short arm of chromosome 6: a family case report and review of the literature.
Journal: Cytogenetic and genome research
Published: May 02, 2013
Familial trisomy 6p in mother and daughter.
Journal: American journal of medical genetics. Part A
Published: April 10, 2012
Familial translocation t(6;20)(p21;p13) resulting in partial trisomy 6p and partial monosomy 20p: report of a new case and review of the literature.
Journal: Cytogenetic and genome research
Published: January 23, 2012
Last Updated: 03/06/2025