Adult case of partial trisomy 9q

BMC Medical Genetics

Table 3 Clinical findings of reported cases of pure partial trisomy 9q with duplication (q22.1→) [4, 11–13]

References	1	2	3	4	5
Age	23 years	1 year	17 years	40 years	7 months
Reduced birth weight	+	+
Failure to thrive	+	+	+		+
Learning disability	+	+	+	+
Microcephaly		+	+
Hypertelorism	+				+
Other facial morphologies	+	+
High arched palate				+
Short neck	+
Cardiac abnomalies			+
CNS abnomalies		+		+
Pyloric stenosis		+		+
Digital abnomalies	+	+		+
Growth hormone deficiency	+	+
*Hypothyroidism			+
*Oesophageal atresia			+

ISSN: 1471-2350