Ann Lab Med.  2017 Nov;37(6):563-565. 10.3343/alm.2017.37.6.563.

Phenotype of a Patient With a 1p36.11-p35.3 Interstitial Deletion Encompassing the AHDC1

Affiliations
  • 1Department of Rehabilitation Medicine, College of Medicine, The Catholic University of Korea, Incheon St. Mary's Hospital, Incheon, Korea. dhjangmd@naver.com
  • 2Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul, Korea.
  • 3Catholic Genetic Laboratory Center, College of Medicine, The Catholic University of Korea, Seoul, Korea.

Abstract

No abstract available.


MeSH Terms

Humans
Phenotype*

Figure

  • Fig. 1 Brain magnetic resonance imaging revealing corpus callosum thinning (marked as an arrow).

  • Fig. 2 Comparative genomic hybridization of chromosome 1 in the patient. Breakpoints were revealed in 1p36.11-p35.3 (27,750,155–28,754,771).


Reference

1. Jordan VK, Zaveri HP, Scott DA. 1p36 deletion syndrome: an update. Appl Clin Genet. 2015; 8:189–200.
2. Heilstedt HA, Ballif BC, Howard LA, Lewis RA, Stal S, Kashork CD, et al. Physical map of 1p36, placement of breakpoints in monosomy 1p36, and clinical characterization of the syndrome. Am J Hum Genet. 2003; 72:1200–1212.
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3. Kang SH, Scheffer A, Ou Z, Li J, Scaglia F, Belmont J, et al. Identification of proximal 1p36 deletions using array-CGH: a possible new syndrome. Clin Genet. 2007; 72:329–338.
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4. Xia F, Bainbridge MN, Tan TY, Wangler MF, Scheuerle AE, Zackai EH, et al. De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. Am J Hum Genet. 2014; 94:784–789.
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