Inverted duplication with terminal deletion of 5p and no cat-like cry.
We report on a 6-year-old boy referred for cytogenetics study. A few non-specific features were observed in the newborn: hypotonia, failure to thrive, seizures, pre-auricular skin tags. Cat-like cry was not identified. No remarkable facial dysmorphism, gastrointestinal, respiratory or cardiac abnormalities were identified. At age 4 years, speech and motor skill delays were apparent. Karyotyping and FISH analysis revealed a de novo rearranged chromosome 5p, with subtelomeric deletion of 5p and a duplication of the cri-du-chat critical region. Array CGH using sub-megabase resolution tiling-set (SMRT) array followed by FISH analysis with labeled BACs showed a deletion of 5pter to 5p15.31 (0-6.9 Mb) and an inverted duplication of the greater part of 5p15.31 to the distal end of 5p14.3 (6.9-19.9 Mb). Although very rare, inverted duplications with terminal deletion (inv dup del) have been reported at different chromosomal ends. Our finding adds a second patient of inv dup del 5p to this growing list, and the potential causative mechanisms for this rearrangement are discussed. Review of the mapping information of cri-du-chat patients and the comparison with a previously reported patient suggested that the critical region for cat-like cry is located within a 0.6 Mb region.
Wang
Jia-Chi
JC
Cytogenetics Laboratory, Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Ontario, Canada. wangj@hhsc.ca
Coe
Bradley P
BP
Lomax
Brenda
B
MacLeod
Patrick M
PM
Parslow
Malcolm I
MI
Schein
Jacqueline E
JE
Lam
Wan L
WL
Eydoux
Patrice
P
D002648:Child; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D007446:Chromosome Inversion; D022202:Chromosomes, Artificial, Bacterial; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000235:genetics; D003410:Cri-du-Chat Syndrome / Q000235:genetics; D002658:Developmental Disabilities / Q000235:genetics; D005838:Genotype; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D010641:Phenotype