| Literature DB >> 9783715 |
R G Hutcheon1, A Mallik, M Shaham.
Abstract
We present the clinical features and growth and development of a child with a 45,XX,der(5)t(5;18) (p15;q11.2),-18 karyotype. She had microcephaly, prominent, posteriorly rotated ears, short palpebral fissures with an upward slant, a wide nasal bridge, a thin upper lip, and a short neck. In addition, she had complex congenital heart disease. Although there has been delay in growth and development, she has shown progress in both areas.Entities:
Mesh:
Year: 1998 PMID: 9783715 PMCID: PMC1051467 DOI: 10.1136/jmg.35.10.865
Source DB: PubMed Journal: J Med Genet ISSN: 0022-2593 Impact factor: 6.318