Microdeletion 4p16.3 that includes Wolf-Hirschhorn syndrome critical region – A case report

• Published in: Neuropediatrics
• Main Authors: Brocke, KS, Hackmann, K, Tinschert, S, Prokop, K, Ikonomidou, C, Tyshchenko, N
• Format: Conference Proceeding
• Language: English
• Published: 07.04.2009
• ISSN: 0174-304X; 1439-1899
• DOI: 10.1055/s-0029-1215784

Introduction: Wolf-Hirschhorn syndrome (WHS) is caused by deletions involving chromosome region 4p16.3. The prevalence is approximately 1:50,000. WHS is characterized by prenatal and postnatal growth retardation, muscular hypotonia, mild-to-severe mental retardation and a distinctive facial appearance. The specific facial features may not be evident during the first years of life. Variable manifestations include feeding difficulties, seizures and major congenital anomalies. Clinical variability may be explained by variation in the size of the microdeletion or by the presence of an unbalanced cryptic rearrangement involving other chromosomes. Patient and method: We present a three and a half year old girl with global developmental delay, prenatal and postnatal growth retardation, febrile seizures, feeding difficulties, tear duct stenosis, brachycephaly, and multiple minor facial anomalies. Magnetic resonance imaging of the brain as well as selected metabolic tests, chromosome analysis and molecular genetic tests for Rett and Prader-Willi syndrome revealed no abnormalities. Subsequently, molecular karyotyping using the Agilent 244k array CGH technology was performed as a genome wide search for microdeletions and microduplications. Result: A microdeletion of 3.49 Mb was detected in chromosomal band 4p16.3 and was confirmed by fluorescence in situ hybridisation. The detected microdeletion includes the WHS critical region. Summary: With this case report we present WHS with its characteristic features as one possible cause for global developmental delay. WHS should be included in the list of differenzial diagnoses of clinical neuropediatricians or paediatricians and a microdeletion should be considered in a patient with no visible chromosomal abnormalities.