Unique Combination of 22q11 and 14qter Microdeletion Syndromes Detected Using Oligonucleotide Array-CGH
| Autor: | Ivana Slámová, Petr Kuglík, Miluše Vilémová, Jana Šoukalová, Eva Zrnová, Renata Gaillyová, Vladimíra Vranová |
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| Rok vydání: | 2011 |
| Předmět: |
Proband
congenital hereditary and neonatal diseases and abnormalities 0303 health sciences Microcephaly Pathology medicine.medical_specialty medicine.diagnostic_test 030305 genetics & heredity Case Report Karyotype Biology medicine.disease 03 medical and health sciences 22q11 Deletion Syndrome DiGeorge syndrome Genetics medicine Short philtrum Hypertelorism medicine.symptom Genetics (clinical) 030304 developmental biology Fluorescence in situ hybridization |
| Zdroj: | Molecular Syndromology. 2:88-93 |
| ISSN: | 1661-8777 1661-8769 |
| DOI: | 10.1159/000335334 |
| Popis: | We report an infant with a unique combination of 22q11 deletion syndrome and 14q terminal deletion syndrome. The proband had clinical symptoms compatible with diagnosis of 22q11 deletion syndrome: microcephaly, micrognathia, high-arched palate, hypertelorism, short palpebral fissures, square nasal root, prominent tubular nose, hypoplastic nasal alae, bulbous nasal tip, dysplastic low-set ears, short philtrum, and heart defect, but no cell-mediated immunodeficiency typical for the syndrome. G-banding and fluorescence in situ hybridization analyses revealed a karyotype 45,XY,der(14)t(14;22)(q32.3;q11.2),-22.ish del(14)(q32.33)(D14S1420-),del(22)(q11.2q11.2)(N25-). Subsequent analyses disclosed a translocation between chromosomes 14 and 22 in the proband’s mother with a deleted 14q telomere. Using comparative genome hybridization on oligonucleotide-based microarray (array-CGH), the deletion at 22q11.21 in the size of ∼4.25 Mb was revealed in the proband as well as the deletion of the telomeric area at 14q32.33qter (∼3.24 Mb) in the proband and his mother. However, both the proband and his mother showed mild symptoms (microcephaly, thin lips, carp-shaped mouth) typical for patients with the described terminal 14q deletion syndrome. |
| Databáze: | OpenAIRE |
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