Meloni Vera Ayres, Guilherme Roberta Santos, Oliveira Mariana Moyses, Migliavacca Michele, Takeno Sylvia Satomi, Sobreira Nara Lygia Macena, de Fatima Faria Soares Maria, de Mello Claudia Berlim, Melaragno Maria Isabel
Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil.
Am J Med Genet A. 2014 Sep;164A(9):2378-84. doi: 10.1002/ajmg.a.36631. Epub 2014 Jun 4.
The chromosomal segment 6q24-q25 comprises a contiguous gene microdeletion syndrome characterized by intrauterine growth retardation, growth delay, intellectual disability, cardiac anomalies, and a dysmorphic facial phenotype. We describe here a 10-year follow-up with detailed clinical, neuropsychological, and cytomolecular data of two siblings, male and female, who presented with developmental delay, microcephaly, short stature, characteristic facial dysmorphisms, multiple organ anomalies, and intellectual disability. Microarray analysis showed an 8.5 Mb 6q24.2-q25.2 interstitial deletion. Fluorescence in situ hybridization analyses confirmed the deletions and identified an insertion of 6q into 8q13 in their father, resulting in a high recurrence risk. This is the first report in sibs with distinct neuropsychological involvement, one of them with stenosis of the descending branch of the aorta.
染色体片段6q24 - q25包含一种连续性基因微缺失综合征，其特征为宫内生长迟缓、生长发育延迟、智力残疾、心脏异常以及面部畸形表型。我们在此描述了对一对同胞兄妹（一男一女）进行的10年随访，提供了详细的临床、神经心理学和细胞分子数据，这对兄妹表现出发育迟缓、小头畸形、身材矮小、特征性面部畸形、多器官异常以及智力残疾。微阵列分析显示存在一个8.5 Mb的6q24.2 - q25.2间质性缺失。荧光原位杂交分析证实了缺失，并在他们的父亲中发现6q插入到8q13，导致高复发风险。这是关于同胞兄妹中存在明显神经心理学受累情况的首例报告，其中一人患有降主动脉分支狭窄。
