Table 2. Comparative clinical features and chromosome break points in patients with monosomy 14.

Authors [Year] (ref.)	Region/loci duplicated	Reported clinical anomalies
Our Patient	14pter-> 14q11.2	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
Short E M et al. [1972] (25)	(14q-)+ deletion	Delayed development, Intellectual disability
Petek E et al. [2003] (24)	14q interstitial deletion	Small fontanelle, sloping forehead, micropthalmia, malformed pinnae
Prontera P et al. [2014] (26)	14q11.2 deletion	Macrocephaly, facial dysmorphism with Autism

Bolding represents features in common with our patient.