Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly
Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly
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DOI：
10.1136/jmg.2004.028258
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发表时间：
2005-04-01
影响因子：
4
通讯作者：
Lupski, JR
中科院分区：
文献类型：
--
作者：
Yatsenko, SA;Cheung, SW;Lupski, JR
本研究由贝勒医学院及其附属医院的人类受试者研究机构审查委员会批准，并从其父母那里获得了儿童的适当知情同意。本研究包括五名年龄在1至9岁的无血缘关系的儿童（两名男孩和三名女孩）。对患者KCL 1、KCL 2、KCL 3、KCL 4和KCL 5进行了先天性异常、面部畸形、张力减退、出生后小头畸形、不明原因的精神发育迟滞和言语迟缓的初步临床评价。他们被转诊进行细胞遗传学和亚端粒检测。两个男孩是西班牙裔，三个女孩是北方欧洲人后裔。所有受试者均出生于健康、非血缘的父母，无已知的精神发育迟滞、先天畸形或代谢紊乱家族史。表1总结了临床特征，并与纯9 q末端缺失患者中观察到的临床特征以及报告的OTCS患者中记录的异常进行了比较。患者KCL 3、KCL 4和KCL 5进行了Prader-Willi、脆性X和Rett综合征的额外基因检测，
METHODS Patients This study was approved by the Institutional Review Board for human subjects research at Baylor College of Medicine and Affiliated Hospitals, and appropriate informed consents for children were obtained from their parents. The present research includes five unrelated children (two boys and three girls) aged from 1 to 9 years. Patients KCL1, KCL2, KCL3, KCL4, and KCL5 had an initial clinical evaluation for congenital anomalies, facial dysmorphism, hypotonia, postnatal microcephaly, unexplained mental retardation, and speech delay. They were referred for cytogenetic and subtelomere testing. The two boys were Hispanic and the three girls were of northern European descent. All subjects were born to healthy, non-consanguineous parents with no known family history of mental retardation, congenital malformation, or metabolic disorders. The clinical features are summarised in table 1 and compared with those observed in patients with a pure 9q terminal deletion as well as with the anomalies documented in reported OTCS patients. Patients KCL3, KCL4, and KCL5 had additional genetic testing for Prader-Willi, fragile X, and Rett syndromes,