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...

1q21.1 duplication syndrome or 1q21.1 (recurrent) microduplication is a rare aberration of chromosome 1.[citation needed] On chromosome 1, a human cell...

a deletion of the short p arm of one X chromosome (46,X,del(Xp)) or the presence of an isochromosome with two q arms (46,X,i(Xq)) Turner syndrome has...

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

cardiac defects, dysmorphic features, and petechiae. It involves a 1q21 deletion with RMB8A variant on other allele. Presents with symptoms of thrombocytopenia...

the TAR syndrome the distal deletion, known as the 1q21.1 deletion syndrome the distal duplication, known as the 1q21.1 duplication syndrome The CNVs...

medical syndromes. 13q deletion syndrome Cordoba Syndrome 17q21.31 microdeletion syndrome 1p36 deletion syndrome 1q21.1 deletion syndrome 1q21.1 duplication...

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...

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

size of the deletion on 7p22, enveloping the ACTB gene and surrounding genes, which is consistent with a contiguous gene deletion syndrome. Confirming...

in Down syndrome, affecting 1 in 800 births. Trisomy 18 (Edwards syndrome) affects 1 in 6,000 births, and trisomy 13 (Patau syndrome) affects 1 in 10,000...

Levy RV, Turner S, Ledbetter DH, Martin CL (1993). "17q12 Recurrent Deletion Syndrome". In Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens...

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...

include: Some cancers 1q21.1 deletion syndrome 5q- syndrome in myelodysplastic syndrome (MDS) 22q11.2 deletion syndrome CHARGE syndrome Cleidocranial dysostosis...

particular syndrome. Examples of chromosome abnormalities associated with cataracts include 1q21.1 deletion syndrome, cri-du-chat syndrome, Down syndrome, Patau's...

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...

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

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...

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

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

through nucleotide excision repair. 1q21.1 deletion syndrome 1q21.1 duplication syndrome With 1q21.1 deletion syndrome a disturbance occurs, which leads...

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

in humans is encoded by the LIX1L gene. TAR syndrome 1q21.1 deletion syndrome 1q21.1 duplication syndrome "Entrez Gene: LIX1L Lix1 homolog (mouse)-like"...

and p16 deletion by fluorescence in situ hybridization in the diagnosis of indeterminate biliary strictures". Gastrointestinal Endoscopy. 75 (1): 74–9...

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

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

recent information in which NCC has been seen in combination with 1q21.1 deletion Syndrome. Furthermore, mutations in DES (desmin), TTN (titin), RBM20 and...

A syndrome is a set of medical signs and symptoms that are correlated with each other. A syndrome can affect one or more of body systems. Different syndromes...

1q21.1 deletion syndrome: CHD1L is an enzyme which is involved in untangling the chromatids and the DNA repair system. With 1q21.1 deletion syndrome a...

has been shown to interact with GTF3C4. TAR syndrome 1q21.1 deletion syndrome 1q21.1 duplication syndrome GRCh38: Ensembl release 89: ENSG00000186141...