From: Deletion 21q22.3 and duplication 7q35q36.3 in a Colombian girl: a case report
Anomalies | Rodriguez et al. q31.2-qter [22] | Scelsa et al. q32-qter [21] | Bartsch et al. q33-qter [23] | Bartsch et al. q33-qter [23] | Romain et al. q34-qter [24] | Romain et al. q34-qter [24] | Verma et al. q36-qter [25] | Present report q35-q36.3 | |
---|---|---|---|---|---|---|---|---|---|
Early death | Abortion | ||||||||
Low birth weight | + | Fetus | + | + | |||||
Major anomalies | Congenital heart defects | + | + | ||||||
Genital-urinary defects | + | + | + | ||||||
Skeletal anomalies | + | + | + | + | |||||
Strabismus | + | + | |||||||
Failure to thrive | + | + | + | + | |||||
Developmental delay | Severe | Severe | Severe | Moderate | Severe | Moderate | Severe | ||
Club feet | + | ||||||||
Hypotonia | + | + | + | + | |||||
Minor facial anomalies | Macrocephaly | + | + | + | + | + | |||
Frontal bossing | + | + | + | + | + | ||||
Hypertelorism | + | + | + | ||||||
Narrow palpebral fissures | + | ||||||||
Epicanthus | + | + | |||||||
Down-slanting eyes | + | + | |||||||
Small nose | + | + | + | + | + | ||||
Depressed nasal bridge | + | + | + | + | + | ||||
Micrognathia/Cleft palate | + | + | + | + | + | ||||
Malformed ears | + | ||||||||
Low-set ears | + | + | + | + | + | + | + | ||
Short neck | + | + | + | + | + | + |