Premium
Inverted duplication with terminal deletion of 5p and no cat‐like cry
Author(s) -
Wang JiaChi,
Coe Bradley P.,
Lomax Brenda,
MacLeod Patrick M.,
Parslow Malcolm I.,
Schein Jacqueline E.,
Lam Wan L.,
Eydoux Patrice
Publication year - 2008
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32246
Subject(s) - dup , subtelomere , gene duplication , hypotonia , karyotype , breakpoint , biology , genetics , chromosome , gene
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. © 2008 Wiley‐Liss, Inc.