Slavotinek A, Lee S S, Davis R, Shrit A, Leppig K A, Rhim J, Jasnosz K, Albertson D, Pinkel D
J Med Genet. 2005 Sep;42(9):730-6. doi: 10.1136/jmg.2004.028787.
Fryns syndrome (FS) is the commonest autosomal recessive syndrome in which congenital diaphragmatic hernia (CDH) is a cardinal feature. It has been estimated that 10% of patients with CDH have FS. The autosomal recessive inheritance in FS contrasts with the sporadic inheritance for the majority of patients with CDH and renders the correct diagnosis critical for accurate genetic counselling. The cause of FS is unknown.
We have used array comparative genomic hybridisation (array CGH) to screen patients who have CDH and additional phenotypic anomalies consistent with FS for cryptic chromosome aberrations.
We present three probands who were previously diagnosed with FS who had submicroscopic chromosome deletions detected by array CGH after normal karyotyping with G-banded chromosome analysis. Two female infants were found to have microdeletions involving chromosome band 15q26.2 and one male had a deletion of chromosome band 8p23.1.
We conclude that phenotypes similar to FS can be caused by submicroscopic chromosome deletions and that high resolution karyotyping, including array CGH if possible, should be performed prior to the diagnosis of FS to provide an accurate recurrence risk in patients with CDH and physical anomalies consistent with FS.
弗林斯综合征（FS）是最常见的常染色体隐性综合征，先天性膈疝（CDH）是其主要特征。据估计，10%的CDH患者患有FS。FS的常染色体隐性遗传与大多数CDH患者的散发性遗传形成对比，这使得正确诊断对于准确的遗传咨询至关重要。FS的病因尚不清楚。
我们使用阵列比较基因组杂交（阵列CGH）来筛查患有CDH且伴有与FS一致的其他表型异常的患者，以寻找隐匿性染色体畸变。
我们报告了三名先前被诊断为FS的先证者，他们在进行G带染色体分析的正常核型分析后，通过阵列CGH检测到亚显微染色体缺失。两名女婴被发现有涉及染色体带15q26.2的微缺失，一名男婴有染色体带8p23.1的缺失。
我们得出结论，与FS相似的表型可能由亚显微染色体缺失引起，并且在诊断FS之前应进行高分辨率核型分析，如有可能包括阵列CGH，以便为患有CDH且有与FS一致的身体异常的患者提供准确的复发风险。
