Marker chromosomes Notes: Trisomies due to dicentrics ; Trisomies due to extra rings ; Trisomies due to isochromosomes ; Individual with marker heterochromatin
Q93.8 Other deletions from the autosomes Notes: Deletion 22q11.2 ; Miller-Dieker syndrome ; Smith-Magenis syndrome ; Deletions…
Other deletions from the autosomes Notes: Deletion 22q11.2 ; Miller-Dieker syndrome ; Smith-Magenis syndrome ; Deletions identified by fluorescence in situ hybridization (FISH) ; Deletions identified ...
Q77.2 Short rib syndrome Notes: Asphyxiating thoracic dysplasia [Jeune]
Short rib syndrome Notes: Asphyxiating thoracic dysplasia
Q78.8 Other specified osteochondrodysplasias Notes: Osteopoikilosis
Other specified osteochondrodysplasias Notes: Osteopoikilosis
Q81.9 Epidermolysis bullosa, unspecified
Epidermolysis bullosa, unspecified
Q83.8 Other congenital malformations of breast
Other congenital malformations of breast