The karyotype of the patient revealed an abnormally long short arm in one of the pair of Chromosome 16 that was similar to the change of Chromosome 16 found in his father and the other paternal members of his family, while Chromosome 2 appeared normal. Subsequently the patient was interpreted...
Partial trisomy of the long arm of chromosome 11 is a rare cytogenetic abnormality first reported as a clinical entity in 1972 [1] and described in detail in 1977 [2]. The main features of partial trisomy 11q syndrome include: pre/postnatal growth retardation, developmental delay, intellectual ...