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Table 1 Clinical phenotypes of individuals in the pedigree under study

From: Altered neuronal physiology, development, and function associated with a common chromosome 15 duplication involving CHRNA7

  Unaffected mother (UM) Affected proband (AP) Affected brother
Age at first assessment N/A 8 years old N/A
Sex Female Male Male
Social Responsiveness Scale-2 by mother N/A 72 N/A
Child Behavioral Checklist (CBCL) total by mother N/A 72 N/A
Attention deficit (AD) by CBCL N/A 92 N/A
Screen for Child Anxiety-Related Disorders (SCARED)-P score by mother N/A 46 N/A
Pervasive Developmental Disorder (PDD) No Yes Yes
Depression and anxiety disorder (by Teacher Report Form-TRF) No
(some traits
Seizure history No No No
Developmental delay No Yes-Language development Yes
Eye contact Normal No eye contact at the age of five, intermittent at the age of 12 Normal
Nonverbal communication problems No Yes Yes
Speech/Language Delay No Yes Yes
(some traits
Yes Yes
ASD No Yes (level 1) Yes (traits)
Mood disorder No Yes Yes
Genetic variant 424 kb gain at 15q13.3 424 kb gain at 15q13.3 444 kb gain at 15q13.3
hg19 coordinates of variant [32,020,432-32,444,044] [32,019,918-32,444,044] [31,999,631-32,444,044]
  1. Clinical phenotypes and location of copy number variation in a family with 15q13.3 duplication, including the unaffected mother (UM), affected proband (AP), and his affected brother. Note that the minor differences in reported lengths of the duplications between subjects reflect the limits of resolution of detection by chromosomal microarray analysis