A 420 Kb Deletion within the Minimum Critical Region of the 15q24 Microdeletion Syndrome in a Female Infant

Deling Li, Yao-Shan Fan


Recurrent deletions of the chromosomal region 15q24 have recently been identified as the underlying cause of a novel microdeletion syndrome. A recent study comparing patients with 15q24 deletions of variable size defined a minimum critical deletion region of 1.7 Mb. The corresponding clinical phenotype includes intellectual disability, developmental delay, muscle hypotonia, dysmorphic facial features, skeletal anomalies, cardiac defects, and male genital anomalies. To date, 34 patients with a 15q24 deletion based on array CGH have been reported in the medical literature. Little is known about the genotype phenotype correlation for this genomic region. Case Report: We report a female newborn infant with a 420 Kb deletion within the reported 1.7 Mb critical region of the 15q24 deletion that was identified by array CGH. The infant had tetralogy of Fallot and dysmorphic facial features including a flat nasal bridge, hypertelorism, retro- and micrognathia. The 420 Kb deletion included 11 known genes: COMMD4, NEIL1, MIR631, MAN2C1, SIN3A, PTPN9, SNUPN, IMP3, SNX33, CSPG4, and ODF3L1. The 420 Kb deletion defines the minimum critical region of the 15q24 microdeletion syndrome. Conclusion: Thirty-one of 35 reported patients including the patient presented here, were classified phenotypically according to breakpoints and size. Haplo-insufficiency of the genes in the minimum region may contribute to the clinical phenotype observed in affected patients.


clinical cytogenetics, array CGH, 15q24 microdeletion, congenital anomaly

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