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

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

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	+	++	-

ISSN: 1755-8166