| Autor: |
Mallett, Teresa, McElroy, Michelle, Swift, Kali, Reuter, Suzanne |
| Zdroj: |
South Dakota Medicine; Apr2018, Vol. 71 Issue 4, p154-157, 4p |
| Abstrakt: |
We report a case of amniotic band sequence (ABS) with a 5 kilobase microdeletion at 2p15. The newborn was delivered with absence of the right hand and distal segments of the left digits, consistent with amniotic band sequence. The clinical findings included a lumbar meningocele, bilateral clubfeet, adrenal hypertrophy, microcephaly, and facial dysmorphism. Due to these congenital anomalies not directly associated with ABS, a SNP chromosomal microarray was ordered and identified a 51 kilobase deletion at 2p15, which includes two known genes, USP34 (ubiquitin specific protease 34) and SNORA70B (small nucleolar RNA H/ACA box 70B). The clinical significance of this specific deletion is unknown at this time; however, there have been several case reports with a larger deletion which include these two genes and have been shown to affect neurodevelopment. [ABSTRACT FROM AUTHOR] |
| Databáze: |
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