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

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, d...

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Bibliographic Details
Published in:	American journal of medical genetics Vol. 78; no. 1; pp. 36 - 43
Main Authors:	McMilin, Kenneth D., Reiss, Jacob A., Brown, Michael G., Black, Mary H., Buckmaster, Deborah A., Durum, Connie T., Gunter, Kristine A., Lawce, Helen J., Berry, Toby L., Lamb, Olivia A., Olson, Cathy L., Weeks, Francoise F., Yoshitomi, Marvin J., Jacky, Peter B., Olson, Susan B., Magenis, R. Ellen
Format:	Journal Article
Language:	English
Published:	New York John Wiley & Sons, Inc 16-06-1998 Wiley-Liss
Subjects:	Adult Biological and medical sciences Child chromosomal deletion Chromosome Aberrations - genetics Chromosome Deletion Chromosome Disorders Chromosomes, Human, Pair 2 Female Follow-Up Studies human chromosome 2 Humans Intellectual Disability - genetics interstitial deletion Male Medical genetics Medical sciences Mental and behavioral disorders mental retardation seizure disorder Seizures - genetics Human Long arm Chromosome A2 Developmental disorder Mental retardation Case study Phenotype Intellectual deficiency Evolution Mutation Child Comparative study Bibliographic review
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Summary:	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). Am. J. Med. Genet. 78:36–43, 1998. © 1998 Wiley‐Liss, Inc.
Bibliography:	ArticleID:AJMG8 istex:61206455977CA127FCEC8E6C7023E6525D04D31A ark:/67375/WNG-7R2C3M5C-Z ObjectType-Case Study-2 SourceType-Scholarly Journals-1 ObjectType-Feature-4 content type line 23 ObjectType-Report-1 ObjectType-Article-3
ISSN:	0148-7299 1096-8628
DOI:	10.1002/(SICI)1096-8628(19980616)78:1<36::AID-AJMG8>3.0.CO;2-J