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- Title
Further Clinical Delineation of Chromosome 1q21Microduplication Syndrome: Robin Sequence as an Under-Recognized Association in Chromosomal Microdeletions and Duplications.
- Authors
Salinero, Lauren K.; Shur, Natasha; Oh, Albert K.
- Abstract
Robin sequence (RS) has been reported in association with single gene disorders and chromosomal abnormalities; however, it has not previously been described in connection with chromosome 1q21 microduplication. We present the first known case of a neonate diagnosed with chromosome 1q21.1 microduplication syndrome and RS requiring surgical airway intervention. This case demonstrates the value of genetic testing in cases of RS presenting with other congenital anomalies.
- Subjects
RESPIRATORY obstructions -- Risk factors; JAW abnormalities; GENETIC testing; CLEFT palate; RESPIRATORY obstructions; TREATMENT effectiveness; PIERRE Robin Syndrome; CHROMOSOME abnormalities; MICROGNATHIA; DISEASE complications
- Publication
Cleft Palate Craniofacial Journal, 2021, Vol 58, Issue 4, p514
- ISSN
1055-6656
- Publication type
Article
- DOI
10.1177/1055665620954751