Exome and genome sequencing to unravel the precise breakpoints of partial trisomy 6q and partial Monosomy 2q

BMC Pediatrics

Table 3 Comparison of the phenotype between the 2q- and 6q + syndromes

Phenotype	Del 2q	Dup 6q	Present case	[2]t(2;6)(q37.3;q26)
Psychomotor retardation	+	+	+	+
Growth retardation	+	+	+
Microcephaly		+
Broad/round face	+
Prominent forehead	+	+		+
Flat nasal bridge	+	+	+
Downward-slanting palpebral fissures		+	+
Short palpebral fissures	+
High arched palate		+		+
Carp/bow shaped mouth/Microstomia		+	+
Thin upper lip	+	+	+	+
Micrognathia	+	+	+
Short webbed neck		+	+	+
Joint contractures		+	+
Camptodactyly	+	+	+
Finger ulnar deviation/syndactyly	+	+
Small feet	+	+	+	+
Clubfoot		+
Obesity	+			+

ISSN: 1471-2431