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Table 1 Comparison of phenotypes having partial 8p deletion and partial 15q duplication and its correlation with our case

From: Chromosomal imbalance letter: Phenotypic consequences of combined deletion 8pter and duplication 15qter

Clinical features Partial 8p deletion Our patient Partial 15q duplication
Mental retardation + ++ +
Post natal growth deficiency + - +
Microcephaly + - +
Speech delay + +++ +
Congenital heart disease + +++ +\-
Seizures + + +
Hypotonia - - +
Behavioural abnormalities + - -
Downslanted palpebral fissure +/- + +
Strabismus - ++ +
Ptosis - +++ +
Wide nasal base + ++ +
Short neck + ++ +
Bulbous nose + + -
Low set ears - + +
Puffy cheeks + + +
Midline crease in lower lip - + +
Thin upper lip + - -
Long philtrum - + +
High arched palate - + +
Micrognathia + + +
Pectus excavatum - - +
Scoliosis - - +
Depressed sternum + - -
Short fingers + + +
Inguinal and diaphragmatic hernia + - -
Widely spaced nipples + ++ -