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Further delineation of interstitial chromosome 6 deletion syndrome and review of the literature

Zherebtsov, Monica M.a; Klein, Rachel T.a c; Aviv, Hanab; Toruner, Gokce A.e; Hanna, Nazeeh N.a d; Brooks, Susan Sklowera c

doi: 10.1097/MCD.0b013e3281e668d5

Interstitial deletions of chromosome 6q are a relatively rare finding. Deletions have ranged from the loss of a single band to larger deletions spanning multiple bands. The clinical phenotype varies, but some features commonly seen include cardiac anomalies, hypotonia, facial dysmorphism and mental retardation. To further delineate the syndrome, we report an infant with facial dysmorphism, ectrodactyly and tetralogy of Fallot owing to interstitial deletion 6q16.1–6q22.32. On array comparative genomic hybridization analysis, the deletion spanned from the 93 377 323rd base to the 127 650 582nd base on chromosome 6 [coordinates are based on Human Mar. 2006 (hg18) assembly of International Human Genome Sequencing Consortium]. A literature review identified 16 additional cases with overlapping interstitial deletions of chromosome 6q between q13 and q23.1. Genotype–phenotype correlations are considered.

Departments of aPediatrics


Divisions of cPediatric Genetics

dNeonatology, Bristol-Myers Squibb Children's Hospital at Robert Wood Johnson University Hospital, UMDNJ-Robert Wood Johnson Medical School

eDepartment of Pediatrics, Center for Human and Molecular Genetics, UMDNJ-NJ Medical School, Newark, New Jersey, USA

Correspondence to Dr Susan Sklower Brooks, MD, UMDNJ Robert Wood Johnson Medical School, 97 Paterson Street, New Brunswick, NJ 08903, USA

Tel: +1 732 235 9386; fax: +1 732 235 7088;


Received 9 October 2006 Accepted 11 April 2007

© 2007 Lippincott Williams & Wilkins, Inc.