De novo terminal deletion of chromosome 7 [46,XX,del(7)(q35)].
OBJECTIVE
To report a new case of de novo 7q deletion distal to q35.


METHODS
Developmental, cytogenetic and audiological investigations were carried out in the assessment of this rare chromosomal condition.


RESULTS
Moderate developmental delay, mild congenital microcephaly, growth retardation and conductive hearing impairment were found for this case of 46,XX,del(7)(q35).


CONCLUSIONS
The phenotype of 7q terminal deletion is highly variable.
Lo
B H
BH
Disability Services Commission, Perth, Australia.
Murch
A
A
Chabros
V
V
Withnell
R
R
D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7; D002658:Developmental Disabilities / Q000235:genetics*; D005260:Female; D006130:Growth Disorders / Q000235:genetics*; D006314:Hearing Loss, Conductive / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008831:Microcephaly / Q000235:genetics*; D010641:Phenotype