Kumar D, Clark J W, Blank C E, Patton M A
Clin Genet. 1986 Jun;29(6):530-7. doi: 10.1111/j.1399-0004.1986.tb00555.x.
Coronal craniosynostosis, hypertelorism, telecanthus, broad grooved nasal tip, dental anomalies, mild syndactyly and broad thumbs, consistent with craniofrontonasal dysplasia are described in a family of four affected females over three generations. Documentation of the family is of interest because of variable clinical features and an excess of affected females. The excess of females observed in this condition is as yet unexplained, but cannot be referred simply to X-linked dominance with lethality in the male. Autosomal dominance with less frequent and less severe expression in the male is more tenable. Chromosome analysis on two affected family members revealed a fragile site at 12q13, which was also found in a phenotypically normal family member. A third affected individual did not exhibit this fragile site. Thus it appears that there is a heritable fragile 12q13 site segregating in this family separately from the gene for craniofrontonasal dysplasia.
在一个三代中有四名患病女性的家庭中，描述了与颅额鼻发育异常相符的冠状缝早闭、眶距增宽、内眦距增宽、宽沟状鼻尖、牙齿异常、轻度并指和宽拇指。该家族的记录很有意思，因为其临床特征多变且患病女性过多。在这种情况下观察到的女性过多现象尚未得到解释，但不能简单地归因于X连锁显性伴男性致死。常染色体显性且在男性中表达频率较低、症状较轻的说法更合理。对两名患病家庭成员的染色体分析显示，在12q13处有一个脆性位点，在一名表型正常的家庭成员中也发现了该位点。第三名患病个体未表现出这个脆性位点。因此，似乎在这个家族中存在一个可遗传的12q13脆性位点，它与颅额鼻发育异常基因是分开分离的。
