Deletion of 9q22: a new observation suggesting a specific phenotype.
The observation of a mentally retarded 15 months old male infant with a deletion of 9q22q2207 is compared with similar cases published between 1973 and 1991. Facial dysmorphism and abnormalities of the larynx, brain and heart suggest a particular phenotype. The critical region may be at 9q22.
Pfeiffer
R A
RA
Institut für Humangenetik, Friedrich-Alexander Universität Erlangen-Nürnberg, Germany.
Lachmann
E
E
Schreyer
W
W
Volleth
M
M
D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002899:Chromosomes, Human, Pair 9; D005146:Facial Asymmetry / Q000151:congenital / Q000235:genetics*; D005190:Family; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D010641:Phenotype