Table 1. Correlation of clinical features and chromosome breakpoints in patients with 9p duplication.
| Authors [Year] (ref.) | Region/loci duplicated | Reported clinical anomalies |
|---|---|---|
| Our Patient | 9p24.3->q22.1 | Macrocephaly, slight downward slanting of the eyes with epicanthic folds, hypertelorism, low set ears, large pinnae, long face, bulbous nose, thin upper lip, long philtrum, high arched palate and webbed neck, kyphoscoliosis, rocker bottom feet, short middle interphalangeal, clinodactyly of the fifth finger, pilonidalsinus, cerebral atrophy, dilated ventricles and arachnoid cyst, congenital heart disease, small size kidneys |
| Fryns J P et al. [1979] (29) | 9p | Retardate psychomotor development, hypertelorism, antimagoloid slant, globular nose, protruding ears, dilated ventricles |
| Wilson GN et al. [1985] (2) | 9pter->q22 | Microcephaly , prominent nasal root, bulbous nose, and down-turned comers of the mouth |
| Smart RD et al.[1988] (30) | 9pter->q22.1 | Enlarged ventricles, facial dysmorphism |
| Chih C P et al. [1999] (31) | 9pter->q22 | Enlarged cysternamegna with bilateral ventriculomegaly |
| Von Kaisenberg CS et al. [2000] (32) | 9pter->q22.2 | Dandy Walker malformation* and cerebella vermis hypoplasia in fetus |
| Bouhjar IB et al. [2011] (27) | 9p13.3->pter | Typical dysmorphic features but not mental retardation |
| Lyons JM et al. [2013] (33) | Partial 9p and partial monosomy Yq | Neuro developmental delay, growth delay, dysmorphic features, small genitalia |
| Kowalezyk M. et al. [2013] (28) | 9p13.1->pter duplication with 9 p deletion | Craniofacial anomalies, Dandy Walker malformation*, delayed development, mental retardation |
| Brambila-Tapia AJ et al. [2014] (21) | Pure trisomy 9p13.1 | Psychomotor delay, short stature, open anterior fontanelle, dysplastic ears, facial dysmorphism, Long and broad first toes, CNS and skeletal alterations |
Bolding represents features in common with our patient. *Partial anomalies present in our case.