Skip to main content
. 2011 Jan 19;19(4):400–408. doi: 10.1038/ejhg.2010.211

Table 4. Clinical features of probands with small sized 10q22.3q23.3 duplications with breakpoints in unique sequences.

  Patient 13 Patient 14
Duplication position (Mb) 84.5–84.8 84.2–85
LCR involvement No No
Inheritance Inherited pat Inherited pat
Additional aberrations Inh 6q25.1 dup
Developmental delay
Speech delay + (Blindness related)
Seizures
Birth weight P50 <P3
Current height P10 P75
Current weight P3 >P97
Deep-set eyes +
Full lower lip +
Strabismus +
Anteverted nares +
Full cheeks +
Urogenital anomalies +
Cardiac defect +
Fusion of sacral vertebrae +
Long slender ribs and clavicles +

Abbreviation: LCR, low-copy repeat.

On the basis of phenotype and inheritance pattern, these aberrations most likely represent non-pathogenic variants.