1q21.1 duplication syndrome, also known as 1q21.1 microduplication, is an uncommon copy number variant associated with several congenital abnormalities...

1q21.1 deletion syndrome is a rare aberration of chromosome 1. A human cell has one pair of identical chromosomes on chromosome 1. With the 1q21.1 deletion...

variety of syndromes, including Edwards syndrome (trisomy 18), 1q21.1 duplication syndrome, basal cell nevus syndrome, DiGeorge syndrome and Loeys–Dietz...

Turner syndrome (TS), commonly known as 45,X, or 45,X0, is a chromosomal disorder in which cells of females have only one X chromosome instead of two,...

PMID 30740398. Jones K, Smith D (1975). "The fetal alcohol syndrome". Teratology. 12 (1): 1–10. doi:10.1002/tera.1420120102. PMID 1162620. Clarren S, Alvord...

known genetic diseases of any human chromosome): 1q21.1 deletion syndrome 1q21.1 duplication syndrome Alzheimer's disease Autosomal dominant Charcot-Marie-Tooth...

Down syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome...

Fryns-Aftimos syndrome (also known as Baraitser-Winter syndrome 1, or BWS1) is a rare chromosomal condition and is associated with pachygyria, severe...

nonhomologous chromosomes). Polysomy is found in many diseases, including Down syndrome in humans where affected individuals possess three copies (trisomy) of...

ratio of approximately 1.4. A disruption in normal immune function can lead to the formation of antiphospholipid antibody syndrome. This will affect the...

list of medical syndromes. 1p36 deletion syndrome 1q21.1 deletion syndrome 1q21.1 duplication syndrome 17q21.31 microdeletion syndrome 22q11.2 distal deletion...

TAR syndrome and the more general classifications of 1q21.1 deletion syndrome and 1q21.1 duplication syndrome. Studies of deletions and duplications in...

and duplications the TAR syndrome the distal deletion, known as the 1q21.1 deletion syndrome the distal duplication, known as the 1q21.1 duplication syndrome...

variation within the NBPF10 gene, which results in the 1q21.1 deletion syndrome or 1q21.1 duplication syndrome. One study strongly indicates that miRNAs that...

evolution. It is assumed to be related to the 1q21.1 deletion syndrome and 1q21.1 duplication syndrome. Paralogs of NBPF10 includes other NBPF family...

rejection Autoimmune disorder Coeliac disease Lupus Antiphospholipid antibody syndrome Anti-thyroid autoantibodies Placenta abnormality Previous miscarriage Eating...

NBPF21P NBPF22P NBPF26 "P" indicates a pseudogene. 1q21.1 deletion syndrome 1q21.1 duplication syndrome Olduvai domain Vandepoele, Karl; Van Roy, Nadine;...

Experienced Pregnancy Loss: A Review of the Literature". Adultspan Journal. 14 (1): 2–10. doi:10.1002/j.2161-0029.2015.00032.x. Christiansen, DM (February 2017)...

(Goodman syndrome) Acrocraniofacial dysostosis Alopecia - contractures - dwarfism - intellectual disability syndrome CEBALID syndrome Chromosome 1q21.1 deletion...

Comparative genomics Inparanoid Tandem exon duplication 1q21.1 copy number variations Segmental duplication on the human Y chromosome Johnson, M.E. (2008)...

disease progression and poor prognosis. TAR syndrome 1q21.1 deletion syndrome 1q21.1 duplication syndrome RGMc/HJV is a 4-exon gene in mammals that undergoes...

the duplication did not find any reports of intellectual disability or developmental delay, two usual findings in patients with the 1q21.1 duplication syndrome...

resistant to existing antiangiogenic drugs. TAR syndrome 1q21.1 deletion syndrome 1q21.1 duplication syndrome Cluster of differentiation GRCh38: Ensembl release...

responsible for a variety of syndromes, including Noonan syndrome, LEOPARD syndrome, Costello syndrome and cardiofaciocutaneous syndrome in which there is cardiac...

understanding for the treatment of human caries. 1q21.1 deletion syndrome 1q21.1 duplication syndrome GRCh38: Ensembl release 89: ENSG00000116128 – Ensembl...

muscle and thus may have tissue-specific roles. 1q21.1 deletion syndrome 1q21.1 duplication syndrome PRKAB2 has been shown to interact with PRKAG2 and...

humans is encoded by the POLR3GL gene. TAR syndrome 1q21.1 deletion syndrome 1q21.1 duplication syndrome "Entrez Gene: POLR3GL Polymerase (RNA) III (DNA...

humans is encoded by the ANKRD35 gene. TAR syndrome 1q21.1 deletion syndrome 1q21.1 duplication syndrome "Entrez Gene: ANKRD35 ankyrin repeat domain...

the GJA8 gene. It is also known as connexin 50. 1q21.1 deletion syndrome 1q21.1 duplication syndrome microphthalmia and other vision pathologies GJA8...

to interact with Thioredoxin and ZBTB32. TAR syndrome 1q21.1 deletion syndrome 1q21.1 duplication syndrome GRCh38: Ensembl release 89: ENSG00000265972...