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