A new case of an interstitial deletion (4)(q25q27) characterised by molecular cytogenetic techniques and review of the literature.
Interstitial deletions of the long arm of chromosome 4 involving the region 4q25-q27 are rare. Clinical features of patients carrying such a deletion include craniofacial and skeletal anomalies, malformations of the eye, cardiac abnormalities, congenital hypotonia, and developmental retardation. Here we report a new case of a de novo interstitial deletion 4(q25q27) in a girl with congenital malformations and findings of Rieger syndrome. The abnormal chromosome 4 was characterised by G-banding and molecular cytogenetic methods including comparative genomic hybridisation and two-colour fluorescent in situ hybridisation with band-specific probes.


CONCLUSIONS
this report highlights the importance of high quality banding and fluorescent in situ hybridisation analyses to screen for subtle chromosome 4q25-q27 aberrations in patients with clinical features of Rieger syndrome.
Becker
Sandra Anna
SA
Department of Paediatrics, Caritas-Hospital Bad Mergentheim, Germany.
Popp
Susanne
S
Rager
Klaus
K
Jauch
Anna
A
D000015:Abnormalities, Multiple / Q000235:genetics; D002871:Chromosome Banding / Q000379:methods*; D002894:Chromosomes, Human, Pair 4; D005260:Female; D017353:Gene Deletion; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D007223:Infant