. 2010 Mar 12;86(3):462–470. doi: 10.1016/j.ajhg.2010.02.001

Table 1.

Clinical Features of Uncommon Recurrent PTLS Duplications and Small PTLS Duplications

Trait	Uncommon Recurrent		Small (<1 Mb) Duplication
Trait	2808	2959	2811	2933	2986
Sex	F	F	M	M	F
Age (years)	40	7	3	8	9
Duplication size (Mb)	∼5.0	∼5.0	∼0.8	0.49	0.41

Birth History

Normal growth measurements^∗	+	+	+	NK	+

Medical and Developmental History

Poor feeding as infant^∗	+	+	+	NK	−
Failure to thrive^∗	+	+	+	NK	−
Hypotonia as infant^∗	NK	+	+	NK	+
Developmental delay^∗	−	+	+	+	+
Epilepsy	−	−	−	−	−
Subjective sleep disturbance	−	+	+	+	+

Neuropsychiatric and Behavior History

Cognitive impairment^∗	+	+	+	+	+
Autistic features^a^,∗	+	−	+	+	−
Hyperactivity^∗	+	+	+	+	−
Negative behaviors^b^,∗	+	+	+	+	+

Diagnostic Evaluations

Sleep apnea (sleep study)^∗	NK	NK	NK	NK	−
Ophthalmic or vision abnormality^∗	+	+	NK	−	−
Scoliosis > 10 degrees^c	−	−	−	−	−
Cardiovascular abnormality^d	−	−	−	−	NK
Structural renal anomaly^e	+	NK	NK	−	NK
Hearing impairment^e	−	NK	NK	−	−
Structural CNS abnormality^f	−	−	−	−	−

The following abbreviations are used: +, feature is present; −, feature is not present; NK, not known; ^∗, feature observed in over 70% of PTLS subjects with the common duplication.

E.g., stereotypical or repetitive motor mannerisms, impaired social interaction.

E.g., anxiety, withdrawal, aggression.

∼60% of PTLS subjects with the common duplication have >10 degrees of scoliosis on diagnostic imaging.

∼45% of PTLS subjects with the common duplication have either structural cardiovascular malformations and/or dilatation of the aortic root.

Fewer than 10% of PTLS subjects with the common duplication have hearing impairment or structural renal anomalies.

Structural CNS abnormalities have not been systematically evaluated by cranial imaging in our PTLS cohort.