Graham S M, Selikowitz M
Tumbatin Developmental Clinic, Prince of Wales Children's Hospital, Sydney, New South Wales, Australia.
J Paediatr Child Health. 1993 Oct;29(5):360-2. doi: 10.1111/j.1440-1754.1993.tb00535.x.
A review was carried out to establish the value of chromosome testing in children with significant developmental delay, where the aetiology was not evident clinically. During 1990, 315 children had been assessed at a child development clinic and found to be significantly delayed in one or more areas of development; in 256, the aetiology was not evident clinically. Chromosome testing of these children revealed an abnormality in 10 (3.9%). Thirty children had dysmorphic features; six (20%) of these had an abnormal karyotype. Four (2%) of the 226 who had no dysmorphic features had a chromosome abnormality. One hundred and fifty-five children had intellectual disability; eight (5%) of these had an abnormal karyotype. Two (2%) of 101 who had a specific delay in their development had a chromosome abnormality. The advantages of chromosome testing in children with developmental delay in whom the aetiology is not evident clinically are discussed.
开展了一项综述，以确定染色体检测对病因在临床上不明显的显著发育迟缓儿童的价值。1990年期间，有315名儿童在儿童发育诊所接受评估，结果发现他们在一个或多个发育领域存在显著迟缓；其中256名儿童的病因在临床上不明显。对这些儿童进行染色体检测后发现，有10名（3.9%）存在异常。30名儿童有畸形特征；其中6名（20%）的核型异常。在226名没有畸形特征的儿童中，有4名（2%）存在染色体异常。155名儿童有智力障碍；其中8名（5%）的核型异常。在101名存在特定发育迟缓的儿童中，有2名（2%）存在染色体异常。本文讨论了染色体检测对病因在临床上不明显的发育迟缓儿童的优势。
