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Clinical findings of 23 patients and CNV status

Journal: Molecular Cytogenetics

Article Title: Importance and usage of chromosomal microarray analysis in diagnosing intellectual disability, global developmental delay, and autism; and discovering new loci for these disorders

doi: 10.1186/s13039-018-0402-4

Figure Lengend Snippet: Clinical findings of 23 patients and CNV status

Article Snippet: 13 , 6 y , chr15:22770421–23,276,605 , , UCS/L-Path , Del 0.5 Mb , De novo , 7 , NIPA1, NIPA2, CYFIP1, TUBGCP5 , + , + , hypertelorism, short palpebral fissures, blepharophimosis , corpus callosum agenesis, hypothyroidism.

Techniques:

Clinical findings of 23 patients and CNV status

Journal: Molecular Cytogenetics

Article Title: Importance and usage of chromosomal microarray analysis in diagnosing intellectual disability, global developmental delay, and autism; and discovering new loci for these disorders

doi: 10.1186/s13039-018-0402-4

Figure Lengend Snippet: Clinical findings of 23 patients and CNV status

Article Snippet: 9 , 1 m , chr6:163378290–16,709,184, chr6:160713926–16,287,570, chr6:141494387–144,877,906 , , Path UCS/L-Path Path , Dup 3.7 Mb Del 2.1 Mb Del 3.3 Mb , De novo , 17 8 19 , PACRG, QKI, PDE10A, T, MPC1, RPS6KA2, SLC22A3, LPAL2, LPA, PLG, MAP3K4, AGPAT4, PARK2, NMBR, VTA1, GPR126, HIVEP2, AIG1, PEX3, PLAGL1, HYMAI, STX11, UTRN , N/A , + , upslanting palpebral fissures, round face , neonatal diabetus, hypotonia, deafness.

Techniques: