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GENATLAS PHENOTYPE
last update : 25-05-2011
Symbol DEL1QM
Location 1q21-q32
Name chromosome 1q interstitial deletions
Other name(s) interstitial 1q monosomies 1q24q25 microdeletion syndrome
Corresponding gene LHX4 , CENPL , DNM3
Other symbol(s) DEL1Q24
Main clinical features
  • pre and posnatal growth retardation
  • psychomotor retardation
  • microbrachycephaly, small hands and feet
  • high incidence of cleft-lip palate, especially bilateral CLP
  • clinically recognizable 1q24q25 microdeletion syndrome (9 patients): prenatal-onset microcephaly and proportionate growth deficiency, severe cognitive disability, small hands and feet with distinctive brachydactyly, single transverse palmar flexion creases, fifth finger clinodactyly and distinctive facial features: upper eyelid fullness, small ears, short nose with bulbous nasal tip, tented upper lip, and micrognathia, PMID: 21548129
    • Genetic determination chromosomal
    Prevalence about 30 cases described
    Related entries BOS2
    Function/system disorder multisystem/generalized
    Type MCA/MR
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
      deletion   large interstitial deletions with variable breakpoints
      deletion   refining the locus of branchio-otic syndrome 2 (BOS2) to a 5.25 Mb locus on chromosome 1q31.3q32.1
      deletion   critical deletion region for 1q24-q25 microdeletion syndrome is 1.9 Mb at 1q24.3q25.1 (chr1: 170,135,865-172,099,327), containing 13 genes and including CENPL
    Remark(s)
    Genotype/Phenotype correlations 1 case of del q24.1q25.3 with brachydactyly type E, mullerian agenesis, and GH deficiency, PRX1 is a candidate gene for skeletal anomalies and LHX4 for endocrinological deficiencies; de novo deletion of 1q24.3-q31.2 in a patient with severe growth retardation and LHX4 as a candidate gene for GH deficiency (Nishimura 2010);