Table 3

 Clinical features observed in patients with clinically relevant chromosomal rearrangements

Patients15791214162829
ASD, autism spectrum disorders; F, female; IUGR, intrauterine growth retardation; M, male; MR, mental retardation, PDD-NOS, pervasive developmental disorder—not otherwise specified.
The postnatal growth abnormalities include size, weight and occipitofrontal circumference growth anomalies.
Autism and PDD-NOS were diagnosed according to the Diagnostic statistical manual for mental disorders—fourth edition and Autism Diagnostic Interview—revised criteria.
Rearrangementdel 4q21del 4q21–q23del 1p36del 21q22dup Xq25dup 1q31del 7q11dup 15q11–q13del 3q27.2–q29
SexMMFFMFMFM
Age (years)201123282020242513
Degree of MRModerateMildMildModerateMildMildModerateMildmild
Familial history of MR or ASD+++
IUGR+
Postnatal growth abnormalities++++
Facial dysmorphism+++++++++
No of malformations>2>21>2121
Psychiatric diagnosisAutismAutismPDD-NOSPDD-NOSAutismAutismAutismAutismPDD-NOS