A case of deletion 2q35----qter and a peculiar phenotype.
A case of deletion 2q35----qter and a peculiar phenotype.
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2q35----qter缺失一例及特殊表型。
作者：
Jose Maria Sanchez;Ana Maria Pantano;Fundaci
一个女孩有高和小的头短畸形（但没有颅缝紧闭），抗弱智性睑裂，外斜视，小体畸形，一个特殊形状的鼻子，右手和两脚的软组织并指，精神运动迟缓，被发现有2号染色体缺失（q35----qter）和罗伯逊易位13；从她健康的父亲那里继承了14个。将该女孩的表型与报道的涉及类似缺失的唯一其他病例进行比较。
A girl with a high and microbrachycephalic cranium (but without craniosynostosis), antimongoloid palpebral fissures, external strabismus, microsomy, a peculiarly shaped nose, soft tissue syndactyly in the right hand and both feet, and psychomotor retardation was found to have a deletion of chromosome 2 (q35----qter) and a Robertsonian translocation 13;14 inherited from her healthy father. The girl's phenotype is compared with the only other case reported involving a similar deletion.