RT Journal Article
SR Electronic
T1 Triplication of 15q11-q13 with inv dup(15) in a female with developmental delay.
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 425
OP 428
DO 10.1136/jmg.35.5.425
VO 35
IS 5
A1 F L Long
A1 D P Duckett
A1 L J Billam
A1 D K Williams
A1 J A Crolla
YR 1998
UL http://jmg.bmj.com/content/35/5/425.abstract
AB A 4 year old female referred with developmental delay was found to have two de novo abnormal derivatives of chromosome 15, a supernumerary inverted duplicated marker chromosome (inv dup(15)) and an interstitial triplication of proximal 15q11-q13 or 14 in one of the two 15 homologues (trip(15)). Fluorescence in situ hybridisation (FISH) using probes within and flanking the Prader-Willi/Angelman syndrome critical region (PWASCR) confirmed the triplication in the abnormal 15 homologue. The inv dup(15) was dicentric, positive for IR39d which maps proximal to the PWASCR, but was negative for all the PWASCR FISH probes used. Results using polymorphic microsatellite repeats confirmed that the additional material in the trip(15) was maternal in origin and included several PWASCR loci. The presence of two de novo abnormalities involving the proximal region of 15q suggests a linked mechanism of origin.