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GENATLAS PHENOTYPE
last update : 21-11-2012
Symbol DEL9P
Location 9p22p24
Name chromosome 9p distal deletion
Other name(s) monosomy 9p, Alfi syndrome
Corresponding gene CER1 , FOXD4 , DOCK8
Other symbol(s) DEL9P, 9p-
Main clinical features
  • trigonocephaly, midface hypoplasia, upslanting palpebral fissures, epicanthal folds, flat nasal bridge, anteverted nostrils, long philtrum, small and malformed ears
  • mental retardation/developmental delay with severe speech and language impairment
  • PMID: 22821627 for discussion of the critical regions for 9p-syndrome and DSD
  • Genetic determination chromosomal
    Function/system disorder multisystem/generalized
    mental retardation
    Type MCA/MR
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      deletion   visible deletion of variable size, usually terminal
      translocation   unbalanced, derivative 9 with associated variable trisomy
    Remark(s) ;
    Genotype/Phenotype correlations two critical regions are suggested, one in p23 between 11.8 and 16 Mb from 9pter, the other < 2Mb of 9pter ; CER1 was suggested as a functional candidate gene for trigonocephaly, but not confirmed; FOXD4 is a candidate genes for speech defects, DOCK8 for mental retardation; deletion of DMRT genes alone is not sufficient to cause sex-reversal