7q11.23 Duplication syndrome: Physical characteristics and natural history

Colleen A. Morris, Carolyn B. Mervis, Alex P. Paciorkowski, Omar Abdul-Rahman, Sarah L. Dugan, Alan F. Rope, Patricia Bader, Laura G. Hendon, Shelley L. Velleman, Bonita P. Klein-Tasman, Lucy R. Osborne

Research output: Contribution to journalArticlepeer-review

66 Scopus citations


In order to describe the physical characteristics, medical complications, and natural history of classic 7q11.23 duplication syndrome [hereafter Dup7 (MIM 609757)], reciprocal duplication of the region deleted in Williams syndrome [hereafter WS (MIM 194050)], we systematically evaluated 53 individuals aged 1.25-21.25 years and 11 affected adult relatives identified in cascade testing. In this series, 27% of probands with Dup7 had an affected parent. Seven of the 26 de novo duplications that were examined for inversions were inverted; in all seven cases one of the parents had the common inversion polymorphism of the WS region. We documented the craniofacial features of Dup7: brachycephaly, broad forehead, straight eyebrows, broad nasal tip, low insertion of the columella, short philtrum, thin upper lip, minor ear anomalies, and facial asymmetry. Approximately 30% of newborns and 50% of older children and adults had macrocephaly. Abnormalities were noted on neurological examination in 88.7% of children, while 81.6% of MRI studies showed structural abnormalities such as decreased cerebral white matter volume, cerebellar vermis hypoplasia, and ventriculomegaly. Signs of cerebellar dysfunction were found in 62.3%, hypotonia in 58.5%, Developmental Coordination Disorder in 74.2%, and Speech Sound Disorder in 82.6%. Behavior problems included anxiety disorders, ADHD, and oppositional disorders. Medical problems included seizures, 19%; growth hormone deficiency, 9.4%; patent ductus arteriosus, 15%; aortic dilation, 46.2%; chronic constipation, 66%; and structural renal anomalies, 18%. We compare these results to the WS phenotype and offer initial recommendations for medical evaluation and surveillance of individuals who have Dup7.

Original languageEnglish (US)
Pages (from-to)2916-2935
Number of pages20
JournalAmerican Journal of Medical Genetics, Part A
Issue number12
StatePublished - Dec 1 2015
Externally publishedYes


  • 7q11.23 duplication syndrome
  • Anxiety
  • Aortic dilation
  • Cerebellar vermis hypoplasia
  • Developmental coordination disorder
  • Macrocephaly
  • Psychopathology
  • Speech sound disorder
  • Williams syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


Dive into the research topics of '7q11.23 Duplication syndrome: Physical characteristics and natural history'. Together they form a unique fingerprint.

Cite this