Can Fam Physician. 1988 Apr;34:915-9.
The prevalence of genetic disease in the pediatric population is considerable and probably accounts for at least 50% of childhood deaths and 25% of hospital pediatric admissions. A simple three-generation family history is often very useful, as is background information on ethnicity and consanguinity. A preponderance of affected males in a family should immediately suggest an X-linked recessive disorder which may have widespread implications for female relatives in the family. Chromosomal errors will usually be associated with developmental handicaps and one or more major or minor dysmorphic signs. Disorders involving secondary sexual characteristics are largely genetic in origin. Many disorders which were previously thought to be one entity are now known to be many different entities (genetic heterogeneity).
儿科人群中遗传疾病的患病率相当高，可能至少占儿童死亡人数的 50%和儿科住院人数的 25%。一个简单的三代家族史通常非常有用，家族的种族和近亲结婚背景信息也很有用。如果一个家族中男性患者居多，则应立即考虑 X 连锁隐性遗传病，这可能对家族中的女性亲属有广泛影响。染色体错误通常与发育障碍以及一个或多个主要或次要的畸形特征有关。涉及第二性征的疾病主要是遗传起源的。许多以前被认为是单一实体的疾病现在被认为是许多不同的实体（遗传异质性）。
