Chromosome 10q Deletion del (10)(q26.1q26.3) is Associated with Cataract
oleh: Yu-Tzu Chang, I-Ching Chou, Chung-Hsing Wang, Zheng-Nan Chin, Huang-Tsung Kuo, Chyi-Chyang Lin, Chang-Hai Tsai, Fuu-Jen Tsai
| Format: | Article |
|---|---|
| Diterbitkan: | Elsevier 2013-04-01 |
Deskripsi
Distal 10q deletion syndrome is an uncommon chromosomal disorder. Interstitial deletion involving bands 10q25–10q26.1 is extremely rare and few cases have been reported. The characteristic features are facial dysmorphisms, postnatal growth retardation, developmental delay, congenital heart disease, genitourinary anomalies, digital anomalies, and strabismus. We report for the first time a patient with de novo 10q interstitial deletion del (10)(q26.1q26.3) and cataract.