A 10.46 Mb 12p11.1-12.1 Interstitial Deletion Coincident With a 0.19 Mb NRXN1 Deletion Detected by Array CGH in a Girl With Scoliosis and Autism

作者：Soysal Yasemin^*; Vermeesch Joris; Davani Nooshin Ardeshir; Hekimler Kuyas; Imirzalioglu Necat

来源：American Journal of Medical Genetics, Part A, 2011, 155A(7): 1745-1752.

DOI：10.1002/ajmg.a.34101

• interstitial deletion
• chromosome 12p
• array CGH
• NRXN1 (neurexin-1)
• autism
• developmental disorders
• scoliosis

We present a 12-year-old girl with de novo karyotype 46, XX, del(12)(p11.1p12.1). Array CGH revealed in addition to a 10.466Mb interstitial deletion on 12p11.1 -> 12p12.1 a 0.191Mb deletion on 2p16.3. The girl presented with mild facial dysmorphism consisting of microcephaly, hypertelorism, downslanting palpebral fissures, strabismus, broad nasal base, bulbous nose, short philtrum, micro/retrognathia, irregular tooth arrangement, phalangeal deformity in distal phalanges of hands, 5th finger camptodactyly, brachydactyly in feet, history of joint hypermobility, and scoliosis. She was considered to have mild to moderate mental retardation and ascertained for an autism spectrum disorder(ASD). Short arm of chromosome 12 interstitial deletions are rarely reported whereas point mutations and deletions of NRXN1, which is located on chromosome 2p16.3, are associated with ASDs. In this article we present and discuss the phenotypic consequences of a patient who was affected by deletions of two different chromosomal regions.

• 出版日期2011-7