De novo deletion 7q36 resulting from a distal 7q/8q translocation: phenotypic expression and comparison to the literature.

We report on a 6-year-old male patient with de novo 7q36 deletion and 8q24.3 duplication diagnosed by combining traditional G-banding and FISH studies. His clinical history was remarkable for pre- and postnatal growth retardation, neonatal feeding problems and developmental/mental retardation with non-verbal communication. He presented microcephaly, large ears, narrow palpebral fissures with blepharoptosis, epicanthic folds, large depressed nasal bridge, bulbous nasal tip, right cryptorchidism and delayed bone age on X-rays. There was no evidence of holoprosencephaly (HPE) or sacral agenesis sequence. By using in FISH analysis a series of YACs linearly ordered along the 7q36 region, the precise breakpoint on 7q36 was found to be within the target region of the YAC 742G8, a YAC that appeared to be only partially deleted. Clinical and chromosomal findings in this patient are compared to those previously recorded in similarly investigated patients from the literature with terminal 7q deletion.