American journal of medical genetics. Part A, 2013-07, Vol.161A (7), p.1702-1705
2013
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Details
- Autor(en) / Beteiligte
- Titel
- De novo trisomy 12p in twin girls with different levels of mosaicism
- Ist Teil von
- American journal of medical genetics. Part A, 2013-07, Vol.161A (7), p.1702-1705
- Ort / Verlag
- United States: Blackwell Publishing Ltd
- Erscheinungsjahr
- 2013
- Quelle
- Wiley Online Library Journals Frontfile Complete
- Beschreibungen/Notizen
- We report on a pair of twins with trisomy 12p diagnosed postnatally. The girls were referred for dysmorphism and global developmental delay and have been followed from 10 months of age. They have different levels of mosaicism for both buccal cells and lymphocytes. Although their phenotypic features were similar, there were different degrees of severity which correlate with the different levels of mosaicism. © 2013 Wiley Periodicals, Inc.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 1552-4825eISSN: 1552-4833DOI: 10.1002/ajmg.a.35943Titel-ID: cdi_proquest_miscellaneous_1492613824
- Format
- –
- Schlagworte
- Age, Child, Preschool, Chromosomes, Human, Pair 12 - genetics, developmental delay, Developmental Disabilities - genetics, Diseases in Twins - genetics, Face - abnormalities, Female, Humans, Infant, Infant, Newborn, Lymphocytes - physiology, Male, microarray analysis, Mosaicism, Mouth Mucosa, Pregnancy, Trisomy - genetics, trisomy 12p, twins