UNASSIGNED:一项前瞻性研究,使用阵列CGH在印度三级儿科医疗中心的综合征性小头畸形儿童中进行。
UNASSIGNED:为了确定通过染色体阵列CGH检测到的小头畸形的拷贝数变异。
未经证实:在60名患者中,33(55%)男性和27(45%)女性谁咨询罕见病诊所在儿科,SMS医学院,斋浦尔,包括发育迟缓/面部畸形/先天性异常以及小头畸形。
未经证实:患有后天性或非遗传性小头症的儿童,颅骨融合症,代谢性疾病,我们排除了已知的染色体非整倍体,如21,13和18三体和异常核型.通过阵列CGH分析组群以鉴定潜在致病性拷贝数变体(CNV)。
UNASSIGNED:在20/60(33.3%)患者中发现了临床相关的致病性或可能的致病性拷贝数变异(CNVs),4/60(6.6%)病例中的不确定意义变异(VOUS)和3/60(5%)病例中的良性CNV。在20例致病性CNVs中,12例(60%)患者检测到缺失,5例(25%)重复患者和3例(15%)患者导致复杂的染色体重排。12例出现的CNV中含有已知与小头畸形病因有关的基因。
UNASSIGNED:这项研究强调了显微镜下染色体改变在小头畸形病因中与发育迟缓/面部畸形/先天性畸形(综合征性小头畸形)相结合的贡献。我们的研究提供了更多的见解,通过使用阵列CGH分析在综合征性小头畸形患者中获得的益处。
UNASSIGNED: A prospective study using array CGH in children with Syndromic microcephaly from a tertiary pediatric healthcare centre in India.
UNASSIGNED: To identify the copy number variations causative of microcephaly detected through chromosomal array CGH.
UNASSIGNED: Of the 60 patients, 33 (55%) males and 27 (45%) females who consulted the Rare Disease Clinic at Department of Pediatrics, SMS Medical College, Jaipur, with developmental delay/facial dysmorphism/congenital anomalies in combination with microcephaly were included.
UNASSIGNED: Children with acquired or non-genetic causes of microcephaly, craniosynostosis, metabolic diseases, known chromosomal aneuploidy such as trisomy 21, 13, and 18 and abnormal karyotype were excluded. The cohort was analyzed by array CGH in order to identify potentially pathogenic copy number variants (CNVs).
UNASSIGNED: Clinically relevant pathogenic or likely pathogenic copy number variations (CNVs) were identified in 20/60 (33.3%) patients, variant of uncertain significance (VOUS) in 4/60 (6.6%) cases and benign CNVs in 3/60 (5%) of total cases. Out of 20 cases with pathogenic CNVs, 12 (60%) patients detected with a deletion, five (25%) patients with duplication and three (15%) patients resulted with a complex chromosomal rearrangement. Twelve cases present CNVs containing genes known to be implicated in microcephaly etiology.
UNASSIGNED: This research highlights the contribution of submicroscopic chromosomal changes in the etiology of microcephaly in combination with developmental delay/facial dysmorphism/congenital anomalies (syndromic microcephaly). Our studies provide more insights into the benefits derived by using array CGH analysis in patients with syndromic microcephaly.