Abstract
Deletions on chromosome 6q are rarely reported in the literature, and genotype-phenotype correlations are poorly understood. We report a child with a deletion of the 6q21-q22 chromosomal region, providing some intriguing results about the correlation between this region and acro-cardio-facial syndrome, congenital heart disease, split hand and foot malformation, and epilepsy.
Original language | English |
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Pages (from-to) | 187-189 |
Number of pages | 3 |
Journal | Congenital Anomalies |
Volume | 56 |
Issue number | 4 |
DOIs | |
Publication status | Published - Jul 1 2016 |
Keywords
- 6q21-q22 deletion
- acro-cardio-facial syndrome
- chromosome 6
- epilepsy
- NUS1
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Embryology
- Developmental Biology