Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb

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Disease Ontology 12 DOID:0060411 OMIM® 57 612474 ICD10 32 Q93.5 ICD10 via Orphanet 33 Q93.5

UMLS via Orphanet 72 C2675897 Orphanet 58 ORPHA250989 MedGen 41 C2675897 SNOMED-CT via HPO 68 111266001 128306009 128602000 128613002 191526005 193570009 197811007 199612005 204108000 204296002 204878001 21061000119107 218728005 22033007 22066006 224958001 228156007 230745008 237836003 246545002 246923005 247053007 247578003 249321001 249773003 249808002 253273004 26146002 263681008 271611007 27272007 313307000 32113001 35489007 36440009 396232000 396351009 397932003 398151007 398152000 406506008 408856003 408857007 43064006 432788009 43614003 48694002 5102002 53888004 58140002 58214004 59494005 60700002 61142002 62218008 64217002 67787004 72352009 7305005 7461003 78667006 80093006 81793007 83330001 84757009 90145001 91138005 91175000 more

MedlinePlus Genetics : ⁴³ 1q21.1 microdeletion is a chromosomal change in which a small piece of chromosome 1 is deleted in each cell. The deletion occurs on the long (q) arm of the chromosome in a region designated q21.1. This chromosomal change increases the risk of delayed development, intellectual disability, physical abnormalities, and neurological and psychiatric problems. However, some people with a 1q21.1 microdeletion do not appear to have any associated features.About 75 percent of all children with a 1q21.1 microdeletion have delayed development, particularly affecting the development of motor skills such as sitting, standing, and walking. The intellectual disability and learning problems associated with this genetic change are usually mild.Distinctive facial features can also be associated with 1q21.1 microdeletions. The changes are usually subtle and can include a prominent forehead; a large, rounded nasal tip; a long space between the nose and upper lip (philtrum); and a high, arched roof of the mouth (palate). Other common signs and symptoms of 1q21.1 microdeletions include an unusually small head (microcephaly), short stature, and eye problems such as clouding of the lenses (cataracts). Less frequently, 1q21.1 microdeletions are associated with heart defects, abnormalities of the genitalia or urinary system, bone abnormalities (particularly in the hands and feet), and hearing loss.Neurological problems that have been reported in people with a 1q21.1 microdeletion include seizures and weak muscle tone (hypotonia). Psychiatric or behavioral problems affect a small percentage of people with this genetic change. These include developmental conditions called autism spectrum disorders that affect communication and social interaction, attention-deficit/hyperactivity disorder (ADHD), and sleep disturbances. Studies suggest that deletions of genetic material from the 1q21.1 region may also be risk factors for schizophrenia.Some people with a 1q21.1 microdeletion do not have any of the intellectual, physical, or psychiatric features described above. In these individuals, the microdeletion is often detected when they undergo genetic testing because they have a relative with the chromosomal change. It is unknown why 1q21.1 microdeletions cause cognitive and physical changes in some individuals but few or no health problems in others, even within the same family.

MalaCards based summary : Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb, also known as chromosome 1q21.1 deletion syndrome, is related to thrombocytopenia-absent radius syndrome and thrombocytopenia. An important gene associated with Chromosome 1q21.1 Deletion Syndrome, 1.35-Mb is DEL1Q21 (Chromosome 1q21.1 Deletion Syndrome). Affiliated tissues include eye, brain and heart, and related phenotypes are intellectual disability and frontal bossing

Disease Ontology : ¹² A chromosomal deletion syndrome that has material basis in a contiguous deletion of the 1q21.1 region on chromosome 1 and is characterized by an increases the risk of delayed development, intellectual disability, physical abnormalities, and neurological and psychiatric problems.

GARD : ²⁰ 1q21.1 microdeletion syndrome is a chromosome abnormality where a segment of genetic material on the long arm (or q arm) of chromosome 1 at position 21.1 is missing (or deleted). Some people with this deletion have no observable features while others have variable findings that can include a small head (microcephaly), developmental delay (speech and motor delays), mild intellectual disability, distinctive facial features, and eye abnormalities. Other findings can include seizures as well as abnormalities of the heart, skeleton, and urinary system. Psychiatric and behavioral features can include autism spectrum disorders, anxiety and mood disorders, schizophrenia, attention deficit hyperactivity disorder and sleep disorders. This syndrome is caused by a deletion in a specific region of 1q21.1, which is distinct from the deletion region that causes TAR syndrome.

Wikipedia : ⁷⁴ 1q21.1 deletion syndrome is a rare aberration of chromosome 1. A human cell has one pair of identical... more...

More information from OMIM: 612474

Clinical features from OMIM®:

612474 (Updated 05-Mar-2021)

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