Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2006 Jul;15(3):145-148.
doi: 10.1097/01.mcd.0000198934.55071.ee.

A case of 3q29 microdeletion with novel features and a review of cytogenetically visible terminal 3q deletions

Gareth Baynam  1 , Jack Goldblatt, Sharron Townshend
Affiliations
Review

A case of 3q29 microdeletion with novel features and a review of cytogenetically visible terminal 3q deletions

Gareth Baynam et al. Clin Dysmorphol. 2006 Jul.

Abstract

A further case of 3q29 deletion, in a 13-year-old boy, is described and compared with previous reports. Our case shares a number of dysmorphic and neurodevelopmental features with previously reported individuals with 3q29 microdeletion and is the second reported case with deceleration in head growth--which may be a useful diagnostic clue. Novel features, which may expand the phenotype, include nasal voice, six lumbar vertebrae, lower limb contractures and cerebral sigmoid venous thrombosis. Additionally, cases with cytogenetically visible terminal 3q deletions are reviewed.

PubMed Disclaimer

References

    1. Alvarez Arratia MC, Rivera H, Moller M, Valdivia A, Vigueras A, Cantu JM 1984. De novo del(3)(q2800). Ann Genet 27:109–111.
    1. Brueton LA, Barber JC, Huson SM, Winter RM 1989. Partial monosomy 3q in a boy with short stature, developmental delay, and mild dysmorphic features. J Med Genet 26:729–730.
    1. Chitayat D, Babul R, Silver MM, Jay V, Teshima IE, Babyn P, et al. 1996. Terminal deletion of the long arm of chromosome 3 (46,XX,del(3)(q27→qter)). Am J Med Genet 61:45–48.
    1. Jokiaho I, Salo A, Niemi KM, Blomstedt GC, Pihkala J 1989. Deletion 3q27–3qter in an infant with mild dysmorphism, parietal meningocele, and neonatal miliaria rubra-like lesions. Hum Genet 83:302–304.
    1. Kennedy MB 2000. Signal-processing machines at the postsynaptic density. Science 290:750–754.

MeSH terms

LinkOut - more resources