chromosome 1q21.1 deletion syndrome
1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.
Also known as: 1q21.1 microdeletion syndrome, 1q21.1 recurrent microdeletion (susceptibility locus for neurodevelopmental disorders), Del(1)(q21), chromosome 1q21.1 deletion syndrome, isolated cases, monosomy 1q21.1, 1q21.1 microdeletion, chromosome 1q21.1 microdeletion syndrome.
Category: General
Symptoms associated with chromosome 1q21.1 deletion syndrome
The following symptoms have been associated with chromosome 1q21.1 deletion syndrome in medical literature. Not everyone experiences the same symptoms.
Bilateral tonic-clonic seizure
A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to...
Deeply set eye
An eye that is more deeply recessed into the plane of the face than is typical....
Failure to thrive
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm....
Generalized non-motor (absence) seizure
A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographical...
Seizure
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence ...
Sensorineural hearing impairment
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve....
Tremor
An unintentional, oscillating to-and-fro muscle movement about a joint axis....
Tests used to investigate chromosome 1q21.1 deletion syndrome
Healthcare providers may order these tests when evaluating chromosome 1q21.1 deletion syndrome. Test selection is a clinical decision made by a qualified professional.
CBC with Differential
Measures red blood cells, white blood cells, and platelets to help evaluate overall health and detect disorder...
Comprehensive Metabolic Panel (CMP)
Measures 14 substances in the blood to assess kidney and liver function, electrolyte balance, and blood sugar ...
Urinalysis
Examines urine content to help detect urinary tract infections, kidney disease, and diabetes....
Conditions with overlapping symptoms
These conditions share symptoms with chromosome 1q21.1 deletion syndrome, which is why a clinical evaluation is important.
Cockayne syndrome type 1
Cockayne syndrome caused by mutation(s) in the ERCC8 gene, encoding DNA excision repair protein ERCC-8....
Cockayne syndrome type 2
Cockayne syndrome caused by mutation(s) in the ERCC6 gene, encoding DNA excision repair protein ERCC-6....
Early infantile developmental and epileptic encephalopathy
Early infantile developmental and epileptic encephalopathy is a medical condition that may be associated with ...
RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity
A neurodevelopmental disorder in which the cause of the disease is a variation in RNU5B-1 gene and is characte...
WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome
WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome is a medical condition th...
intellectual disability, autosomal dominant 42
Any autosomal dominant intellectual disability in which the cause of the disease is a heterozygous mutation in...
Frequently Asked Questions
What is chromosome 1q21.1 deletion syndrome?
chromosome 1q21.1 deletion syndrome is a health condition described in medical literature. 1q21.1 microdeletion syndrome is a newly described recurrent deletion syndrome with variable clinical manifestations but without the clinical picture of thrombocytopenia - absent radius (TAR) syndrome.
What are the symptoms of chromosome 1q21.1 deletion syndrome?
chromosome 1q21.1 deletion syndrome is associated with 7 symptoms in the medical literature we index, including Bilateral tonic-clonic seizure, Deeply set eye, Failure to thrive, Generalized non-motor (absence) seizure, Seizure, Sensorineural hearing impairment. Symptoms vary widely between individuals.
How is chromosome 1q21.1 deletion syndrome diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with chromosome 1q21.1 deletion syndrome include CBC with Differential, Comprehensive Metabolic Panel (CMP), Urinalysis. This information is educational, not a diagnosis.
Is SymptomDatabase.com diagnosing me?
No. SymptomDatabase.com does not provide diagnosis. If you are concerned you may have chromosome 1q21.1 deletion syndrome, please discuss your symptoms with a qualified healthcare provider.