Lam Felicia, Morris Colleen
Department of Pediatrics, University of Nevada School of Medicine, Las Vegas, Nevada.
Genetics Division, Department of Pediatrics, University of Nevada School of Medicine, Las Vegas, Nevada.
Am J Med Genet A. 2016 Nov;170(11):3013-3017. doi: 10.1002/ajmg.a.37843. Epub 2016 Jul 15.
Interstitial deletions of the long arm of chromosome 1 are rare, and recent reports of individuals with molecularly characterized deletions have resulted in advances in genotype-phenotype correlation. The recognizable phenotype associated with 1q23.3-q25.1 includes pre- and post-natal growth retardation, microcephaly, intellectual disability, delayed language acquisition, small hands and feet with brachydactyly and single palmar crease, and distinctive facial features including short bulbous nose, micrognathia, and ear malformations. We report a patient with an 11.35 Mb deletion from 1q23.3-q25.1 who has these features in addition to a rarely reported complication-profound sensorineural hearing loss. He has both pre- and post-natal growth deficiency and growth hormone deficiency that was diagnosed at age 2 years. However, unlike other individuals with this deletion and growth hormone deficiency, this boy has responded to treatment with human growth hormone. © 2016 Wiley Periodicals, Inc.
1号染色体长臂的间质性缺失较为罕见，最近关于分子特征明确的缺失个体的报道推动了基因型与表型相关性研究的进展。与1q23.3-q25.1相关的可识别表型包括产前和产后生长发育迟缓、小头畸形、智力障碍、语言习得延迟、手脚短小并伴有短指畸形和单掌褶，以及独特的面部特征，包括短而球根状的鼻子、小颌畸形和耳部畸形。我们报告了一名患者，其1q23.3-q25.1区域存在11.35 Mb的缺失，除了一种罕见的并发症——严重感音神经性听力损失外，还具有上述特征。他在出生前后均生长不足，并在2岁时被诊断出患有生长激素缺乏症。然而，与其他患有这种缺失和生长激素缺乏症的个体不同，这个男孩对人生长激素治疗有反应。© 2016威利期刊公司
