## Abstract We describe a patient with multiple congenital anomalies including tracheobronchomalacia, CTβproven metopic craniosynostosis, glandular hypospadias and severe ventral chordee, torticollis, esotropia, strabismus, fifth finger clinodactyly, hallux valgus, and global developmental delay. U
A Novel 1p35.1p34.3 Microdeletion in a Baby Boy with Multiple Congenital Anomalies and Developmental Delay
β Scribed by Kantarci, Sibel
- Book ID
- 127349835
- Publisher
- Elsevier
- Year
- 2014
- Tongue
- English
- Weight
- 37 KB
- Volume
- 207
- Category
- Article
- ISSN
- 2210-7762
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Here we describe a Bedouin boy with a de novo duplication of l p and multiple congenital anomalies. He had microcephaly, convergent squint, anteverted nostrils, malformed ears, micrognathia, hypoplasia of the terminal phalanges, clinodactyly of 5th fingers, simian creases, left inguinal hernia, cryp
## Abstract Chromosome duplications involving 1p are rarely reported but are apparently associated with short survival as well as congenital malformations and impaired development. Several of these have had congenital heart defects, although too few patients have been reported with similar breakpoi