A patient with duplication (7)(p15.3p22.3) and deletion (7)(p22.3pter) characterized by array-CGH
Genetic Counseling, cilt.25, sa.4, ss.405-412, 2015 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 25 Sayı: 4
- Basım Tarihi: 2015
- Dergi Adı: Genetic Counseling
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.405-412
- Anahtar Kelimeler: 7p duplication, Del(7)(p22.3pter), Dup(7)(p15.3p22.3)
- Sağlık Bilimleri Üniversitesi Adresli: Hayır
Özet
Summary: A patient with duplication (7)(pl5.3p22.3) and deletion (7)(p22.3pter) characterized by array-CGH: We report a patient with neurodevelopmental delay, hypotonia, congenital cardiac anomaly and dysmorphic features such as macrocephaly, a large anterior fontanel, prominent forehead, short neck, downslanted and short palpebral fissures, hypertelorism, wide nasal bridge, straight, thin nose with asymmetric narrow inverted nostrils, micrognathia, low-set dysplastic ears. 7pl5.3-p22.3 duplication and a 7p22.3-pter deletion were characterized by array-CGH analysed after karyotyping and FISH studies. The patient's distinctive features are consistent with the phenotypic features of 7p duplication. The genes involved in these regions are discussed for their possible relation to our patient's phenotype.