First reported case of interstitial 15 q15.3-q21.3 deletion diagnosed prenatally and characterized with array CGH in a fetus with an isolated short femur
| Autor: | Fatma Abdelhedi, Laurence Cuisset, Aziza Lebbar, Vassilis Tsatsaris, Dominique Le Tessier, Johanna Corcos, Julia Tantau, Jean-Michel Dupont |
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| Rok vydání: | 2011 |
| Předmět: |
Adult
Autopsy Biology Craniosynostosis Chromosome 15 Fatal Outcome Pregnancy Prenatal Diagnosis Genetics medicine Humans Femur Genetics (clinical) In Situ Hybridization Fluorescence Fetus Chromosomes Human Pair 15 Comparative Genomic Hybridization medicine.diagnostic_test Karyotype Anatomy medicine.disease Female Chromosome Deletion Short femur Fluorescence in situ hybridization Comparative genomic hybridization |
| Zdroj: | American journal of medical genetics. Part A. (3) |
| ISSN: | 1552-4833 |
| Popis: | We report on a fetus with an isolated short femur detected by ultrasound and a de novo interstitial deletion of chromosome 15. The deletion was diagnosed prenatally by karyotype and further mapped by fluorescence in situ hybridization (FISH) and array comparative genomic hybridization (array-CGH) to bands 15q15.3 to 15q21.3 with a size of 11.11 Mb. Fetal autopsy showed characteristic minor anomalies, urinary abnormalities, and delayed bone maturation, but neither craniosynostosis, nor congenital heart defects as observed in previously reported cases. Despite the existence of ultrasound abnormalities, all five cases reported so far were diagnosed after birth. This is the first case of an interstitial deletion involving chromosomal band 15q15.3-q21.3 diagnosed prenatally and characterized at the molecular level. Our observation suggests the absence of imprinted genes in the area of 15q15–q22 and strengthens the hypothesis that a critical region for craniosynostosis may be mapped outside the deleted region in the present patient. © 2012 Wiley Periodicals, Inc. |
| Databáze: | OpenAIRE |
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