Clinical, cytogenetic and molecular study of a case of ring chromosome 10

Table 1 Comparison of clinical features associated with pure 10p deletions and pure 10q deletions published in DECIPHER

Deletion interval, hg19	Protein coding genes	Size (Mb)	Phenotypes						DECIPHER ID
Deletion interval, hg19	Protein coding genes	Size (Mb)	Developmental delay/ID	Facial dysmorphism	Hand malformations	Cardiac malformations	Short stature	Epilepsy	DECIPHER ID
10p15
10:269607-1380732	ZMYND11, DIP2C, PRR26, LARP4B, GTPBP4, IDI2, WDR37, ADARB2-AS1	1.11	+	-	-	-	+	+	1232
10:136361-1758581	ZMYND11, DIP2C, PRR26, LARP4B, GTPBP4, IDI2, WDR37, ADARB2-AS1	1.62	+	+	-	-	+	-	2319
10:299304-740247	ZMYND11, DIP2C, PRR26	0.44	+	+	+	-	-	-	270190
10:723328-1214416	DIP2C, PRR26, LARP4B, GTPBP4, IDI2	0.49	+	-	-	-	-	-	271618
10:148206-2461302	ZMYND11, DIP2C, PRR26, LARP4B, GTPBP4, IDI2, WDR37, ADARB2-AS1	2.31	+	-	-	-	-	-	274302
10:158945-313504	ZMYND11	0.15	+	+	-	+	+	-	248177
10:148206-1232090	ZMYND11, DIP2C, PRR26, LARP4B, GTPBP4, IDI2, WDR37, ADARB2-AS1	1.08	+	-	-	-	-	-	290840
10q26
loss 10:131489998-135390508	MGMT, EBF3, GLRX3, TCERG1L, PPP2R2D, BNIP3, JAKMIP3, DPYSL4, STK32C, LRRC27, PWWP2B, C10orf91, INPP5A, NKX6-2, C10orf93, GPR123, KNDC1, UTF1, VENTX, ADAM8, TUBGCP2, ZNF511, CALY, PRAP1, C10orf125, ECHS1, PAOX, MTG1, SPRN, CYP2E1, SYCE1, SPRNP1	3.90	-	+	+	-	-	-	3452
loss 10:135057537-135434113	ADAM8, TUBGCP2, ZNF511, CALY, PRAP1, C10orf125, ECHS1, PAOX, MTG1, SPRN, CYP2E1, SYCE1, SPRNP1	0.38	+	-	-	-	-	+	263009
loss 10:135053398-135404523	VENTX, ADAM8, TUBGCP2, ZNF511, CALY, PRAP1, C10orf125, ECHS1, PAOX, MTG1, SPRN, CYP2E1, SYCE1	0.35	-	-	-	-	-	-	286726

Cases with larger deletions than those identified in our patient and cases without a detailed clinical description were excluded from the comparison.
ID, intellectual disability.

ISSN: 1755-8166