Martínez-Frías M L, Bermejo E
INSALUD, Hospital Universitario San Carlos, Madrid, Spain.
J Med Genet. 1992 Jul;29(7):483-6.
We analysed the sample of gypsies included in the Spanish Collaborative Study of Congenital Malformations (ECEMC), a hospital based, case-control study and surveillance system. Special emphasis was placed on the birth prevalence of recessive multiple congenital anomaly syndromes, comparing their frequency in the gypsy population with that observed among non-gypsies. We observed an increased prevalence of birth defects, mostly because of groups of children with patterns of multiple anomalies and with autosomal recessive syndromes. The latter were approximately seven times more frequent in gypsies than in non-gypsies. We also estimated the carrier frequency in both groups (gypsy and non-gypsy). We consider that the frequent occurrence of the conditions observed reflects the high rate of consanguineous couples among the Spanish gypsy population.
我们分析了纳入西班牙先天性畸形协作研究（ECEMC）的吉普赛人样本，该研究是一项基于医院的病例对照研究及监测系统。特别强调了隐性多发性先天性异常综合征的出生患病率，将其在吉普赛人群中的发生率与非吉普赛人群中观察到的发生率进行比较。我们观察到出生缺陷患病率有所增加，主要是因为患有多种异常模式和常染色体隐性综合征的儿童群体。后者在吉普赛人中的发生率是非吉普赛人的大约七倍。我们还估计了两组（吉普赛人和非吉普赛人）的携带者频率。我们认为观察到的这些病症频繁发生反映了西班牙吉普赛人群中近亲结婚的高比例。
