Towards New Approaches to Evaluate Dynamic Mosaicism in Ring Chromosome 13 Syndrome

Table 1

Clinical and general findings of patients evaluated.

Patients	1	2	3
DOB (d/m/y)	04/10/2012	26/03/2008	01/10/1989
Euchromatic deleted segment	q32.3q34	q33.3q34	q31.1q34
Segment size	13.58 Mb	6.87 Mb	30 Mb
Sex	F	M	F
Weight at birth (g)	1600	2620	1200
Height at birth (cm)	42	48	NK
Microcephaly	+	+	+
Mental retardation	+	+	+
Brain anomalies	−	−	+
Development delay	+	+	+
Hypotonia	+	+	+
Facial dysmorphisms	+	−	+
Prominent forehead	−	+	−
Low-set hair	−	−	+
Hirsutism	−	−	+
Broad/flat nasal bridge	−	+	−
Oblique eyelids	+	−	+
Microphthalmia	−	−	+
Nistagmus	−	−	+
Strabismus	−	−	+
Epicanthus	+	+	−
Hypertelorism	+	−	−
Micrognathism	−	−	+
Microstomy	−	−	+
Narrow and ogival palate	−	+	Nk
Dysmorphic ears	+	−	+
Low ears implantation	+	−	+
Short neck	−	+	−
Mammilary hypertelorism	−	−	+
Congenital cardiopathy	−	+	+
Skeletal anomalies	−	+mild lordosis	+
Feet anomalies	−	−	+
Hands anomalies	−	+	+
Thumb hypoplasia/agenesis	−	−	+
Parental karyotypes	Normal	Normal	Normal

Notes. nk: not known (+): presence (‒): absence