DiMario F J, Sarfarazi M
Department of Pediatrics, Connecticut Children's Medical Center, Hartford 06106, USA.
J Pediatr. 1997 Apr;130(4):647-51. doi: 10.1016/s0022-3476(97)70251-8.
We examined family pedigrees of children with severe breath-holding spells (SBHS). There were 57 probands (27 males, 30 females; 44 cyanotic, 13 pallid) whose families comprised 1683 individuals. We found that 31 (27%) of 114 proband parents and 9 (21%) of 43 proband siblings had current or prior SBHS. Father-to-son transmission was observed in 7 instances. There were 7 families with 2 or more affected siblings and 5 families with 3 or more affected members. From 85 nuclear families, 130 individuals had current or prior SBHS (59 males, 71 females; male/female ratio, 1:12). These data suggest that the most likely underlying genetic inheritance pattern in SBHS is an autosomal dominant trait with reduced penetrance.
我们研究了患有严重屏气发作（SBHS）儿童的家系。共有57名先证者（27名男性，30名女性；44名发绀型，13名苍白型），其家族成员共1683人。我们发现，在114名先证者的父母中，有31名（27%）目前或既往有SBHS，在43名先证者的兄弟姐妹中，有9名（21%）目前或既往有SBHS。观察到7例父子遗传。有7个家庭有2名或更多受影响的兄弟姐妹，5个家庭有3名或更多受影响的成员。在85个核心家庭中，有130人目前或既往有SBHS（59名男性，71名女性；男女比例为1:1.2）。这些数据表明，SBHS最可能的潜在遗传模式是外显率降低的常染色体显性性状。
