Trisomy 21, mosaicism (mitotic nondisjunction)
Q92.5 Duplications with other complex rearrangements Notes: Partial trisomy due to unbalanced translocations
Duplications with other complex rearrangements Notes: Partial trisomy due to unbalanced translocations
Q93.7 Deletions with other complex rearrangements Notes: Deletions due to unbalanced translocations, inversions and insertions
Deletions with other complex rearrangements Notes: Deletions due to unbalanced translocations, inversions and insertions
Q75.4 Mandibulofacial dysostosis Notes: Franceschetti syndrome ; Treacher Collins syndrome
Mandibulofacial dysostosis Notes: Franceschetti syndrome ; Treacher Collins syndrome
Q76.419 Congenital kyphosis, unspecified region
Congenital kyphosis, unspecified region
Q71.21 Congenital absence of both forearm and hand, right upper limb
Congenital absence of both forearm and hand, right upper limb
Q71.52 Longitudinal reduction defect of left ulna
Longitudinal reduction defect of left ulna
Q71.893 Other reduction defects of upper limb, bilateral
Other reduction defects of upper limb, bilateral