Table 1 The summary of 3 References of Chromosome 13q12.3 deletions

Emilia Cirillo et al. 2012 [8]

One male

17 years

13q12.3–q14.11

Yes

Immunodeficiency with elevated IgM levels, cerebellar ataxia, telangiectasia, freckles, microcephaly, developmental delay, facial dysmorphisms, skeletal anomalies and spontaneous fractures.

Normal.

Moderate enlargement of cisterna magna ventricular system

Moderate hypoplasia of the caudal part of the cerebellar vermis with dilatation of adjacent cerebrospinal fluid spaces.

Deborah Bartholdi et al. 2014 [4]

One male, and two females

Male:18 years

Females:9 years and 13 years

13q12.3

Yes

Intellectual disability, postnatal microcephaly, and eczema/atopic dermatitis

N/A

N/A

Normal of two females

Giorgia Mandrile et al. 2014 [23]

One female

5 years

13q12.2q13.1

Yes

Wide set eyes, long philtrum, thin upper lip, and large ears, psychomotor developmental delay and markedly delayed speech

Normal.

N/A

Mild hypomyelination of the subcortical regions and thinning of the corpus callosum.