Unique Combination of 22q11 and 14qter Microdeletion Syndromes Detected Using Oligonucleotide Array-CGH

Molecular Syndromology

R. Gaillyová¹  P. Kuglík¹  I. Slámová¹  E. Zrnová¹  V. Vranová¹  M. Vilémová¹  J. Šoukalová¹ 

[1] aDepartment of Genetics and Molecular Biology, Institute of Experimental Biology, Faculty of Science, Masaryk University, Brno, Czech Republic

关键词: 14qter microdeletion syndrome;    Array-CGH;    Deletion 14q;    Deletion 22q11;    DiGeorge syndrome;    Velocardiofacial syndrome;   

DOI  :  10.1159/000335334

学科分类：基础医学

来源: S Karger AG

【 摘 要 】

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.

【 授权许可】

Unknown