Clinical outcomes of four patients with microdeletion in the long arm of chromosome 2

Kenneth D. McMilin, Jacob A. Reiss, Michael G. Brown, Mary H. Black, Deborah A. Buckmaster, Connie T. Durum, Kristine A. Gunter, Helen J. Lawce, Toby L. Berry, Olivia A. Lamb, Cathy L. Olson, Francoise F. Weeks, Marvin J. Yoshitomi, Peter B. Jacky, Susan B. Olson, R. Ellen Magenis

Research output: Contribution to journalArticle

18 Scopus citations

Abstract

We present clinical outcome, through several years of follow-up, of 4 mentally retarded patients, each with a small interstitial deletion in the long arm of chromosome 2, within a region on which clinical reports are infrequent. Our patient 1 was found to have del(2)(q22.3q23.3); patients 2 and 3, del(2)(q23.3q24.2); and patient 4, del(2) (q24.2q31). By comparison of our cases with each other and with those previously published with comparable interstitial deletion, we attempted to identify characteristic clinical findings. Short neck with excessive cervical skin was seen with monosomy of chromosome 2 bands q22.3-q23.3, while hypertrichosis and a peculiar high pitched cry were seen with monosomy of chromosome 2 bands q23.3-q24.2. As suggested by Moller et al. [1984: Hum Genet 68:77-86], a cleft between the first and second toes was seen with monosomy of chromosome 2 bands q24.2- q31. In addition, seizure disorder was present in patients 1 and 4 (with the more proximal and distal deletions, respectively).

Original languageEnglish (US)
Pages (from-to)36-43
Number of pages8
JournalAmerican Journal of Medical Genetics
Volume78
Issue number1
DOIs
StatePublished - Jun 16 1998

Keywords

  • Chromosomal deletion
  • Human chromosome 2
  • Interstitial deletion
  • Mental retardation
  • Seizure disorder

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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    McMilin, K. D., Reiss, J. A., Brown, M. G., Black, M. H., Buckmaster, D. A., Durum, C. T., Gunter, K. A., Lawce, H. J., Berry, T. L., Lamb, O. A., Olson, C. L., Weeks, F. F., Yoshitomi, M. J., Jacky, P. B., Olson, S. B., & Magenis, R. E. (1998). Clinical outcomes of four patients with microdeletion in the long arm of chromosome 2. American Journal of Medical Genetics, 78(1), 36-43. https://doi.org/10.1002/(SICI)1096-8628(19980616)78:1<36::AID-AJMG8>3.0.CO;2-J