DOI: 10.36347/sjmcr.2020.v08i01.025

Pages: 79-82

2q37 microdeletion syndrome or Albright Hereditary Osteodystrophy like (AHO-like), also referred to as AHO3 or Monosomy 2q37qter, is characterized by developmental delay, intellectual disability, brachymetaphalangy of digits 3- 5, short stature, obesity, hypotonia, characteristic facial appearance, autism, and skeletal defects. In this work, we report a case of cytogenetically visible de novo deletion of this 2q37 chromosome region, referred to genetic department of Mohammed VI University Hospital of Marrakech and we discuss its clinical features and laboratory tests. R-banding chromosomal analysis was performed for the patient from T lymphocyte cultures in vitro and blocked in metaphase. This technique showed a small terminal deletion of the long arm of chromosome 2 and the karyotype was designated 46, XX, del(2)(pter ---->q37:). Parental karyotypes (R-banding) were also realized, but didn’t show any chromosomal abnormality. So, in that case, genetic counseling is reassuring for the future pregnancies. We show through this work the interest of the geneticist in the diagnosis of rare syndromes and appropriate genetic counseling of patient and his family.