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Table 2 Contrast of the clinical features of patients with 4p duplication and 8p deletion with our patient

From: Inherited unbalanced translocation (4p16.3p15.32 duplication/8p23.3p23.2deletion) in the four generation pedigree with intellectual disability/developmental delay

Patients Škrlec et al Sagar et al Reis et al Our patient
No.1 No.2
Age/Sex 5 m/F 25y/F 11y/M 8y/F 4y/F
Karyotype der(8)t(4;8) (p16.1;p23.1) der(8)t(4;8) (p16.1 → pter; p23.1 → pter) der(8)t(4;8)(p16.2;p23.3) der(8)t(4;8) (p16.2;p23.3)  der(8)t(4;8)(p15.2;p23.1)
DD N.D N.D  +   +   + 
ID N.D N.D  +   +   + 
ADHD N.D  +   −   −   − 
Facial abnomalies  +   +   −   −   − 
Language delay N.D  +   +   +   + 
Autism N.D  +   +   +   − 
Cardiovascular anomalies atrial septal defect  +   −   −   − 
Unstable emotion N.D  +   +   +   + 
Behavioural problems (type) N.D Repetitive behavior Aggressive behavior  −   − 
Hyperactivity N.D  +   −   +   + 
Overgrowth N.D Macrocephalic  −   −   − 
Learning disability N.D  +   +   +   + 
Abnormal walking posture N.D  +   −   −   + 
Skeletal anomalies Clinodactyly, widely spaced nipples, third toe low inserted a mild thoracic scoliosis concave  −   −   − 
Other  −  Hypertrichosis of the eyelashes;  −   −   − 
  1. m month, y year, F female, M male, − feature absent, + feature present, N.D. not descriped, DD developmental delay, ID intellectual disability, ADHD attention-deficit hyperactivity disorder
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Molecular Cytogenetics

ISSN: 1755-8166