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Table 1 Clinical features in patients with de novo 9p12p24 duplication

From: Insulin-like growth factor type 1 deficiency in a Moroccan patient with de novo inverted duplication 9p24p12 and developmental delay: a case report

First author of reference Duplication 9p Congenital abnormalities
Our patient p12-p24 inverted - Microcephaly, large anterior fontanel - Short stature, psychomotor delay - Hypertelorism, deep-set eyes, down-set ears, bulbous nose tip, broad nasal bridge, short philtrum, downturned corners of the mouth, retrognathia, short neck - Fifth finger clinodactyly, left foot equinus - Umbilical hernia. - Growth hormone deficiency
Cuoco et al., 1982 [16] p12-p24 tandem - Short stature, psychomotor retardation, puberty delay, Mental retardation - Hypertelorism, deep-set eyes, convergent strabismus, antimongoloid slant of eyes, malformed protruding ears, downturned corners of the mouth, dental malocclusion - Fifth finger clinodactyly, bilateral hypoplasia of the fourth metacarpal bone, hypoplastic nails, knee and elbow valgus, delayed bone age
Motegi et al., 1985 [17] p12-p24 tandem - Microcephaly, brachycephaly, large anterior fontanelle - Short stature - Hypertelorism, antimongoloid slant of eyes, cup-shaped ears, prominent nasal bridge, bulbous nose, downturned corners of the mouth, cleft lip and palate, - Small hands and feet, hypoplastic nails
Tsezou et al., 2000 [4] p12-p24 tandem - Brachycephaly - Psychomotor delay - High forehead, hypertelorism, epicanthus, deep-set eyes, cup-shaped ears, bulbous nasal tip, thin upper lip, downturned corners of the mouth, micro-retrognathia, short broad neck - Syndactyly of the third and fourth fingers, syndactyly of the second to fourth toes, hypoplastic nails - Widely spaced nipples, left cerebellar hypoplasia
Case 1
Case 2
p12-p24 inverted - Brachycephaly - Psychomotor delay - Frontal bossing, hypertelorism, epicanthus, deep-set eyes, strabismus, cup-shaped ears, bulbous nasal tip, downturned corners of the mouth, short broad neck - Widely spaced nipples - Short upper lip, short thumbs, transverse single palmar crease
  1. Words in bold represents features in common with our patient