A Novel 2.3 Mb Microduplication of 9q34.3 Inserted into 19q13.4 in a Patient with Learning Disabilities

Table 1

Clinical features in patients with duplication and/or triplication of the 9q34 region.

Cytogenetics	Hou and Wang [1] dup 9q32→q34.3	Allderdice et al. [2] dup 9q34.1→q34.3	Spinner et al. [3] and Youngs et al. [4]^a dup 9q33.3→qter	Mattina et al. [5] dup 9q34.1→qter	Gawlik-Kuklinska et al. [6] dup 9q34.1→q34.3	Papadopoulou et al. [7] dup9q34.1→q34.3	Gijsbers et al. [8] dup and trip 9q34.3	Present case dup 9q34.3→qter
Size of 9q duplication determined by molecular karyotype	Undetermined	Undetermined	13.79 Mb	Undetermined	7.26 Mb	~5–5.8 Mb	~0.53 Mb duplication; ~2.4 Mb triplication	~2.3 Mb
Other chromosomal anomalies	Null	Null	Del 12p13.33	Dup 21pter→q22.1	Null	Dels 15q21.2-15q21.3; 15q22.31-15q23; 15q25.1-15q25.2	Null	Null
Clinical features
Dolicocephaly	+	+	+	*	+	−	*	+
Facial asymmetry	*	+	+	*	+	−	+	+
Deep-set eyes/small palpebral fissures	+	+	+	+	+	−	+	+
Beaked nose	+	+	+	+	−	+	−	−
High arched palate	+	+	+	+	*	+	−	+
Micrognathia/ retrognathia	+	+	+	*	+	+	+	+
Arachnodactyly/; camptodactyly	+	+	+	+	+	+	+	−
Long halluces	*	+	+	+	+	+	*	+
Scoliosis	*	+	+	*	+	−	−	+
Low birth weight	+	+	+	−	−	+	−	+
Hypotonia	+	+	+	+	+	+	−	+
Failure to thrive	+	+	+	*	+	−	−	−
Cardiac defects	+	+	+	+	−	+	−	−
Developmental delay/intellectual disability	+	+	+	+	+	+	+	+

^aYoungs et al. [4] is an 18-year follow-up report on an infant with dup 9q34 originally reported by Spinner et al. [3].
*Not reported or observed from published photographs.