1q21.1 microdeletion 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.



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Narrow down the case reports



Total: 2 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(75.0%)		 6934055
 Interstitial deletion of the long arm of chromosome 1, del(1)(q21 leads to q25) in a profoundly retarded 8-year-old girl with multiple anomalies.
Schinzel A, Schmid W.
Clin Genet. 1980;18(4):305-13.
Bulbous nose Short finger Bilateral cleft lip
FYB1
Child Chromosome Deletion Chromosome Mapping Chromosomes, Human, 1-3 Dermatoglyphics Females Genetic Markers Homo sapiens Intellectual Disability
2
(36.6%)		 29523099
(5845372)
 Novel heterozygous pathogenic variants in CHUK in a patient with AEC-like phenotype, immune deficiencies and 1q21.1 microdeletion syndrome: a case report.
Cadieux-Dion M, Safina NP, Engleman K, Saunders C, Repnikova E, Raje N, Canty K, Farrow E, Miller N, Zellmer L, Thiffault I.
BMC Med Genet. 2018;19(1):41.
Recurrent infections Ankyloblepharon Cleft lip
Amino Acid Sequence Child, Preschool Chromosome Deletion Chromosomes, Human, Pair 1 Cleft Palate Ectodermal Dysplasia Eye Abnormalities Gene Frequency Heterozygote Homo sapiens Immunologic Deficiency Syndromes Interferon Regulatory Factors Macrocephaly Male Microarray Analysis Missense Mutation Phenotype Protein-Serine-Threonine Kinases Tumor Suppressor Proteins
        

Phenotype(s) retrieved from Orphanet

    Total: 47

HPO ID Term Frequency
HP:0000218 High palate Frequent (79-30%)
HP:0000252 Microcephaly Frequent (79-30%)
HP:0000286 Epicanthus Frequent (79-30%)
HP:0000343 Long philtrum Frequent (79-30%)
HP:0000414 Bulbous nose Frequent (79-30%)
HP:0000431 Wide nasal bridge Frequent (79-30%)
HP:0000490 Deeply set eye Frequent (79-30%)
HP:0001249 Intellectual disability Frequent (79-30%)
HP:0001263 Global developmental delay Frequent (79-30%)
HP:0002007 Frontal bossing Frequent (79-30%)
HP:0004322 Short stature Frequent (79-30%)
HP:0000023 Inguinal hernia Occasional (29-5%)
HP:0000028 Cryptorchidism Occasional (29-5%)
HP:0000076 Vesicoureteral reflux Occasional (29-5%)
HP:0000126 Hydronephrosis Occasional (29-5%)
HP:0000238 Hydrocephalus Occasional (29-5%)
HP:0000407 Sensorineural hearing impairment Occasional (29-5%)
HP:0000486 Strabismus Occasional (29-5%)
HP:0000518 Cataract Occasional (29-5%)
HP:0000568 Microphthalmia Occasional (29-5%)
HP:0000612 Iris coloboma Occasional (29-5%)
HP:0000716 Depressivity Occasional (29-5%)
HP:0000717 Autism Occasional (29-5%)
HP:0000739 Anxiety Occasional (29-5%)
HP:0001161 Hand polydactyly Occasional (29-5%)
HP:0001250 Seizures Occasional (29-5%)
HP:0001252 Muscular hypotonia Occasional (29-5%)
HP:0001274 Agenesis of corpus callosum Occasional (29-5%)
HP:0001508 Failure to thrive Occasional (29-5%)
HP:0001511 Intrauterine growth retardation Occasional (29-5%)
HP:0001643 Patent ductus arteriosus Occasional (29-5%)
HP:0001671 Abnormal cardiac septum morphology Occasional (29-5%)
HP:0001762 Talipes equinovarus Occasional (29-5%)
HP:0001770 Toe syndactyly Occasional (29-5%)
HP:0001773 Short foot Occasional (29-5%)
HP:0001829 Foot polydactyly Occasional (29-5%)
HP:0002360 Sleep disturbance Occasional (29-5%)
HP:0002650 Scoliosis Occasional (29-5%)
HP:0004209 Clinodactyly of the 5th finger Occasional (29-5%)
HP:0005692 Joint hyperflexibility Occasional (29-5%)
HP:0007018 Attention deficit hyperactivity disorder Occasional (29-5%)
HP:0008499 High hypermetropia Occasional (29-5%)
HP:0010059 Broad hallux phalanx Occasional (29-5%)
HP:0010296 Ankyloglossia Occasional (29-5%)
HP:0011304 Broad thumb Occasional (29-5%)
HP:0011611 Interrupted aortic arch Occasional (29-5%)
HP:0100753 Schizophrenia Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID