Tetrasomy 21pter→q21.2 in a male infant without typical Down’s syndrome dysmorphic features but moderate mental retardation

Table 2

Genes within the tetrasomic region of chromosome 21

Chromosome band	Genes
Based on the data in the Ensembl server, these genes were selected. Thirty-four genes are within the tetraploid region.
Genes included in the human chromosome 21 gene expression atlas¹⁰ are in bold.
p11.2	*TPTE/PTEN2*
q11.2	Novel (12x)
	*NM_174981*
	ABCC13
	*STCH*
	*SAMSN1*
	*NRIP1/RIP140*
q21.1	Novel (7x)
	*USP25*
	*CXADR*
	*BTG3*
	*C21orf91/YG-81*
	CHODL (c21orf68/PRED12)
	*PRSS7*
	PPIA
	*NCAM2*
q21.2 proximal to breakpoint	Novel (1x)

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Tetrasomy 21pter→q21.2 in a male infant without typical Down’s syndrome dysmorphic features but moderate mental retardation

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