Maternal complex chromosome rearrangement ascertained through a del (13)(q12.1q14.1) detected in her mildly affected daughter.
A maternal complex chromosome rearrangement (CCR) involving chromosomes 2, 13, and 20 was ascertained in a normal female through the diagnosis of a deletion of 13q in her daughter. The child has mild clinical features and developmental delay consistent with proximal deletions of 13q that do not extend into band q32 and a del(13)(q12q14.1) that does not involve the retinoblastoma locus by FISH. Maternal studies by GTG banding and FISH showed a complex karyotype with bands 13q12.3-->13q12.1::20p13 translocated to 2p13 and bands 2pter-->2p13::13q12.3-->13q14.1 translocated into band 20p13. This would be the first report of an interstitial deletion of 13q inherited from a parental complex chromosome rearrangement.
Drummond-Borg
M
M
Division of Genetic Screening and Case Management, Bureau of Children's Health, Texas Department of Health, Austin, Texas, USA.
Kulharya
A S
AS
Tonk
V
V
Garcia-Heras
J
J
D002872:Chromosome Deletion; D002882:Chromosomes, Human, Pair 13; D002889:Chromosomes, Human, Pair 2; D002890:Chromosomes, Human, Pair 20; D005260:Female; D006801:Humans; D007223:Infant; D014178:Translocation, Genetic