Tos T, Karaman A, Aycan Z, Tükün A
Department of Medical Genetics, Dr. Sami Ulus Children's Health and Diseases Training and Research Hospital, Ankara, Turkey.
Genet Couns. 2011;22(2):227-31.
A rare case of monosomy 18p with molecular cytogenetic characterization of 18;21 whole arm translocation is presented. An 8-year-old gril with mental deficiency and growth deficiency was the child of a 45-year-old healthy mother and 50-year-old nonconsanguineous father with unremarkable prenatal history. She had a round face, flat nasal bridge, micrognathia and hypotonia. Cytogenetic studies revealed de novo 45,XX,del(18)t(18;21) karyotype, which was confirmed by fluorescence in situ hybridization (FISH).
本文报告了一例罕见的18号染色体短臂单体伴18;21全臂易位的分子细胞遗传学特征病例。一名8岁女童智力发育迟缓且生长发育迟缓，其母亲45岁，身体健康，父亲50岁，非近亲结婚，产前检查无异常。她圆脸、鼻梁扁平、小颌畸形且肌张力低下。细胞遗传学研究显示为新发的45,XX,del(18)t(18;21)核型，荧光原位杂交（FISH）证实了这一结果。
