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Deletion of short arm of chromosome 18
- ... occurs when a piece of the long (q) arm of chromosome 18 is missing. The term ... include short stature (often due to growth hormone deficiency), weak ...
- ... syndrome Distal monosomy 3p Partial ... three small distal deletions and review. Am J Med Genet A. 2007 Sep 15;143A(18):2143-9. doi: 10.1002/ajmg.a.31902. ...
- ... 11 this is missing a piece of the short arm, which causes WAGR syndrome. ... doi: 10.1159/000172086. Epub 2008 Dec 18. Erratum In: Cytogenet Genome Res. 2009;124(1): ...
- ... hypoplastic left heart syndrome); feeding difficulties in infancy; short stature; frequent ear and sinus ... Epub 2015 Aug 18. Citation on PubMed Grossfeld PD, Mattina T, Lai ...
- ... In severe cases, the limbs may be so short that the hands and feet are located very close ... and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression ...
- ... cell. The duplication occurs on the long (q) arm of the chromosome at a position designated ... in chromosome 17q12. Eur J Hum Genet. 2010 Mar;18(3):278-84. doi: 10.1038/ejhg.2009. ...
- ... cell. The deletion occurs on the long (q) arm of the chromosome at a position designated ... deletion syndrome. BMC Psychiatry. 2018 Jun 8;18(1):183. doi: 10.1186/s12888-018-1760- ...
- ... cell. The deletion occurs on the long (q) arm of the chromosome at a position designated ... in chromosome 17q12. Eur J Hum Genet. 2010 Mar;18(3):278-84. doi: 10.1038/ejhg.2009. ...
- ... also been associated with behavioral problems, including a short attention span, ... microdeletion syndrome. Genet Med. 2016 Nov;18(11):1111-1118. doi: 10.1038/gim.2016. ...