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Oct 15, 2019 · Koolen-de Vries syndrome is caused by genetic changes that eliminate the function of one copy of the KANSL1 gene in each cell. Most affected individuals are missing a small amount of genetic material, including the KANSL1 gene, from one copy of chromosome 17.This type of genetic abnormality is called a microdeletion.
This page is for the European families and parents/carers of individuals who have the diagnosis of Koolen-de Vries Syndrome (KdVS) also known previously as 17q21.31 Microdeletion Syndrome. We are all here to help one and other through the good and bad times. We can share our experiences and information to help each other.
Jan 26, 2010 · Diagnosis/testing. The syndrome can be caused by a 500- to 650-kb heterozygous deletion at chromosome 17q21.31 that includes KANSL1 or a heterozygous intragenic pathogenic variant in KANSL1.Note: The 17q21.31 microdeletion cannot be identified by routine analysis of G-banded chromosomes or other conventional cytogenetic banding techniques.Cited by: 4
17q21.31 microdeletion syndrome, also known as Koolen–de Vries syndrome (KdVS), is a rare genetic disorder caused by a deletion of a segment of chromosome 17 which contains six genes. This deletion syndrome was discovered independently in 2006 by three different research groups.Other names: Koolen–De Vries syndrome, Koolen de Vries syndrome, Koolen De Vries syndrome
The chromosome 17q21.31 microdeletion syndrome has been renamed. The condition is now called the Koolen de Vries syndrome (KdVS; MIM #610443). The syndrome is caused by either the fact that a small part of chromosome 17 is missing (17q21.31 microdeletion) or a …
Are you looking for disease information or support? Simply type in the name of a disease or condition and Disease InfoSearch will locate quality information from a database of more than 13,000 diseases and thousands of support groups and foundations. ... 17q21.31 Microdeletion Syndrome. Get Update Overview. Type of Disease: Rare Condition or ...
110 rows · Mar 03, 2017 · Genetics Home Reference (GHR) contains information on Koolen de Vries …
Koolen de Vries Syndrome - 17q21.31 Microdeletion Syndrome Support Group has 1,170 members. Welcome Koolen de-Vries Syndrome Families! You MUST answer...
Are you looking for disease information or support? Simply type in the name of a disease or condition and Disease InfoSearch will locate quality information from a database of more than 13,000 diseases and thousands of support groups and foundations. ... 17q21.31 Microdeletion Syndrome. Get Update Find Support. Support Type. Disease Support ...
Unique – Rare Chromosome Disorder Support Group . Unique – Rare Chromosome Disorder Support Group . G1, The Stables Station Road West Surrey RH8 9EE United Kingdom ... 17q21.31 deletion syndrome, Monosomy 17q21.31, Microdeletion 17q21.31 syndrome, Chromosome 17q21.31 microdeletion syndrome, 17q21.31 microdeletion syndrome, KANSL1-Related ...
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