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last update : 11-07-2012
Symbol DEL1Q44
Location 1q42-qter
Name chromosome 1q44 microdeletion syndrome
Other name(s) monosomy 1qter, del1qter, 1qter microdeletion syndrome, chromosome 1q subtelomere deletion syndrome
Corresponding gene AKT3 , HNRNPU , ZBTB18 , CEP170
Other symbol(s) DEL1QT, MRD22
Main clinical features
  • moderate to severe mental retardation, growth retardation (prenatal onset), severe progressive microcephaly, hypospadias, corpus callosum abnormalities, cardiac anomalies, gastro-oesophageal reflux
  • a characteristic facies : round face, sparce fine hair, short nose with a long, smooth philtrum, thin upper lip, and full, round facies with periorbital fullness, bow shaped eyebrows
  • Genetic determination chromosomal
    Function/system disorder multisystem/generalized
    mental retardation
    Type MCA/MR
    Gene product
    Name contiguous gene syndrome
    Gene mutationChromosome rearrangementEffectComments
      deletion   visible deletion >3Mb
      deletion   subtelomeric deletion detected by FISH, with overlapping phenotype
      translocation   derivative chr 1 with associated trisomy
      inversion   recombinant chr 1 with associated trisomy 1p
      deletion   a 0.440 Mb deletion in region 1q44 containing the HNRPU gene
    Remark(s) candidate genes: AKT3 for microcephaly, ZNF238 for corpus callosum abnormalities ; a critical region including HNRPU for seizures (Caliebe 2010, PMID: 21800092 ; PMID: 22678713))
    Genotype/Phenotype correlations clinical similarities exist between patients with large terminal deletions with breakpoints at or distal to 1q42 and patients with cryptic subtelomeric deletions; deletion spanning the last 1.6 Mb have been observed in normal individuals