Lo B H, Murch A, Chabros V, Withnell R
Disability Services Commission, Perth, Australia.
J Paediatr Child Health. 1996 Aug;32(4):347-9. doi: 10.1111/j.1440-1754.1996.tb02568.x.
To report a new case of de novo 7q deletion distal to q35.
Developmental, cytogenetic and audiological investigations were carried out in the assessment of this rare chromosomal condition.
Moderate developmental delay, mild congenital microcephaly, growth retardation and conductive hearing impairment were found for this case of 46,XX,del(7)(q35).
The phenotype of 7q terminal deletion is highly variable.
