目的:我们介绍了一个要求未来妊娠遗传咨询的家庭智障儿童的父系起源的从头染色体1q41-q42.11微缺失的分子细胞遗传学特征。
方法:43岁,gravida1,para1,woman,他有一个15岁的儿子患有智力障碍,计划有另一个正常的孩子,并要求对未来的怀孕进行遗传咨询。她丈夫48岁。该15岁男孩的身高为148cm(<第3百分位数),体重为40Kg(<第35百分位数)。他有面部畸形,智力迟钝,脊柱侧弯,异常步态,法洛四联症,肺动脉瓣狭窄和自闭症,但没有任何癫痫病史。对男孩和父母的细胞遗传学分析显示核型正常。该家族的阵列比较基因组杂交(aCGH)分析显示了从头2.028-Mb1q41-q42.11微缺失,或ARR1q41q42.11(222,571,596-224,599,234)×1.0[GRCh37(hg19)],包括13个在线孟德尔人遗传(OMIM)基因,包括DISP1,SUSD4,FBXO28,TP53BP2和WDR26。定量荧光聚合酶链反应分析证实了缺失的父系起源。荧光原位杂交分析证实了1q41缺失。
结论:对先前有一个患有智力迟钝的孩子并希望在未来怀孕期间再生育一个正常孩子的父母进行遗传咨询应包括遗传研究,在这种情况下,aCGH是有用的。
OBJECTIVE: We present molecular cytogenetic characterization of a de novo chromosome 1q41-q42.11 microdeletion of paternal origin in a mentally retarded child of a family requesting for genetic counseling of the future pregnancy.
METHODS: A 43-year-old, gravida 1, para 1, woman, who had a 15-year-old son with mental retardation, planned to have another normal child and requested for genetic counseling of the future pregnancy. Her husband was 48 years old. The 15-year-old boy had a body height of 148 cm (<3rd centile) and a body weight of 40 Kg (<35th centile). He had facial dysmorphism, mental retardation, scoliosis, abnormal gaits, tetralogy of Fallot, pulmonary stenosis and autism but did not have any history of epilepsy. Cytogenetic analysis of the boy and the parents revealed normal karyotypes. Array comparative genomic hybridization (aCGH) analysis of the family revealed a de novo 2.028-Mb 1q41-q42.11 microdeletion, or arr 1q41q42.11 (222,571,596-224,599,234) × 1.0 [GRCh37 (hg19)], encompassing 13 Online Mendelian Inheritance in Man (OMIM) genes including DISP1, SUSD4, FBXO28, TP53BP2 and WDR26 in the child. Quantitative fluorescent polymerase chain reaction analysis confirmed a paternal origin of the deletion. Fluorescence in situ hybridization analysis confirmed a 1q41 deletion.
CONCLUSIONS: Genetic counseling of the parents who have a previous child with mental retardation and who wish to have another normal child in the future pregnancy should include genetic studies, and aCGH is useful under such a circumstance.