Ţuţulan-Cunită Andreea Cristina, Papuc Sorina Mihaela, Arghir Aurora, Rötzer Katharina Magdalena, Deshpande Charulata, Lungeanu Agripina, Budişteanu Magdalena
Victor Babes National Institute of Pathology, Bucharest, Romania.
J Child Neurol. 2012 Aug;27(8):1062-6. doi: 10.1177/0883073811431016. Epub 2012 Jan 30.
3p interstitial deletions have emerged in recent years as a new cause of neurodevelopmental delay and intellectual disability. Since the first report of this condition in 1979, 16 cases have been described in the literature, delineating it as a presumptive syndrome. Here, we add a novel case presenting severely delayed neurodevelopment and psychomotor development; facial dysmorphism (square facies, broad forehead, short palpebral fissures, epicanthic folds, broad nasal bridge, and low-set malformed ears); cerebral, cardiac, and genital malformations; hand and feet anomalies; sacral sinus; and hearing impairment. Genetic investigations revealed a del(3)(p12.3p14.1) of 12.5 Mb, including 31 ORFs, among which ROBO2, PDZRN3, MITF, and FOXP1 are known to act in neurodevelopment. The clinical features of our patient are compared with those previously reported in the literature, thus providing further support for the delineation of the 3p interstitial deletion syndrome.
近年来，3p间质缺失已成为神经发育迟缓与智力残疾的一个新病因。自1979年首次报道该病症以来，文献中已描述了16例病例，将其界定为一种推定综合征。在此，我们新增一例呈现严重神经发育和精神运动发育迟缓的病例；面部畸形（方脸、宽额头、睑裂短、内眦赘皮、鼻梁宽以及低位畸形耳）；脑、心脏和生殖器畸形；手足异常；骶窦；以及听力障碍。基因检测发现一个12.5 Mb的del(3)(p12.3p14.1)，包含31个开放阅读框，其中已知ROBO2、PDZRN3、MITF和FOXP1在神经发育中发挥作用。我们将该患者的临床特征与文献中先前报道的特征进行了比较，从而为3p间质缺失综合征的界定提供了进一步支持。
