一名产前诊断为45,XX,der(5)t(5;18)(p15;q11.2),-18核型患儿的临床特征及智力发育情况

Hutcheon R G, Mallik A, Shaham M

Department of Pediatrics, St Joseph's Hospital and Medical Center, Paterson, New Jersey 07503, USA.

J Med Genet. 1998 Oct;35(10):865-7. doi: 10.1136/jmg.35.10.865.

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.

我们报告了一名核型为45,XX,der(5)t(5;18)(p15;q11.2),-18的儿童的临床特征、生长及发育情况。她患有小头畸形、耳朵突出且向后旋转、睑裂短小且向上倾斜、鼻梁宽、上唇薄以及颈部短。此外，她还患有复杂先天性心脏病。尽管生长和发育存在延迟，但她在这两个方面都已取得进步。