Clinical features of trisomy 12 mosaicism-Report and review
| Autor: | Janice Zunich, Bo Hong, Reha M. Toydemir, Amanda Openshaw |
|---|---|
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Pathology medicine.medical_specialty Nasal bridge medicine.medical_treatment Chromosome Disorders Trisomy 03 medical and health sciences 0302 clinical medicine Chromosome analysis Genetics medicine Humans Genetics (clinical) In Situ Hybridization Fluorescence Comparative Genomic Hybridization 030219 obstetrics & reproductive medicine In vitro fertilisation Chromosomes Human Pair 12 medicine.diagnostic_test business.industry Mosaicism Infant Newborn Infant Karyotype medicine.disease Peripheral blood 030104 developmental biology Palpebral fissure Karyotyping Female business Fluorescence in situ hybridization |
| Zdroj: | American journal of medical genetics. Part A. 173(6) |
| ISSN: | 1552-4833 |
| Popis: | Trisomy 12 mosaicism is a rare condition. Herein, we report a patient with mosaic trisomy 12 who was conceived by in vitro fertilization. She presented with mild dysmorphic features at birth, including down-slanting palpebral fissures, a depressed and creased nasal bridge, and mild rhizomelic shortening of the limbs. She had age-appropriate development at 6 months of age, but displayed slightly more dysmorphic features than at birth. Chromosome analysis on peripheral blood revealed a normal female karyotype in 50 metaphases. A concurrent genomic microarray analysis showed trisomy 12 in about 25% of the specimen, which was also confirmed by fluorescence in situ hybridization analysis with the CEP12 probe. Our findings further delineate the clinical features in trisomy 12 mosaicism in liveborns and demonstrate the utility of genomic microarray analysis in identification of mosaic aneuploidies. |
| Databáze: | OpenAIRE |
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