title: [Phenotypic and genetic analysis of a child with blepharophimosis, ptosis, epicanthus inverses syndrome and tetralogy of Fallot].
abstract: OBJECTIVE To determine the genetic cause of a child with blepharophimosis, ptosis, and epicanthus inverses syndrome and tetralogy of Fallot, and to correlate the phenotype with the genotype. METHODS Routine G-banding has been previously performed on the patient and her parents. Chromosome microarray analysis (CMA) was performed for the three individuals and the fetus. RESULTS Chromosomal analysis has suggested normal karyotypes for the child and her parents. However, a de novo 8.9 Mb deletion on chromosome 3q22.1-q23 was detected by CMA. The deleted region has encompassed 74 genes including 41 disease-related genes, and this is also the most frequent region involved in interstitial 3q deletion. Patients with deletion of this region often have a common feature of dysplasia of eyelids, as well as a spectrum of other anomalies according to different breakpoints, including microcephaly, skeletal anomalies, congenital heart defects, cranial anomalies, intellectual disability and developmental delay. The patient's phenotype was in accordance with such spectrum. Her parents and sib did not show this variation by CMA. CONCLUSION The de novo interstitial deletion of 3q22.1-q23 probably underlies the main clinical manifestation in this child. CMA can provide more detailed information and allow further investigation of the genotype-phenotype correlation.
authors.affiliation: Prenatal Diagnosis Center of Jiangsu Province, Nanjing University Medical School Affiliated Drum Tower Hospital, Nanjing University Medical School, Nanjing, Jiangsu 210008, P.R. China. Email: glyyhuyali@163.com.
authors.forename: Xiangyu
authors.initials: X
authors.lastname: Zhu
authors.forename: Yaping
authors.initials: Y
authors.lastname: Wang
authors.forename: Guangfeng
authors.initials: G
authors.lastname: Zhao
authors.forename: Leilei
authors.initials: L
authors.lastname: Gu
authors.forename: Jie
authors.initials: J
authors.lastname: Li
authors.forename: Ruifang
authors.initials: R
authors.lastname: Zhu
authors.forename: Yali
authors.initials: Y
authors.lastname: Hu
mesh_terms: D016569:Blepharophimosis / Q000235:genetics*; D002675:Child, Preschool; D002893:Chromosomes, Human, Pair 3; D005260:Female; D006801:Humans; D024101:Mitochondrial Proteins / Q000235:genetics; D010641:Phenotype; D012269:Ribosomal Proteins / Q000235:genetics; D012868:Skin Abnormalities / Q000235:genetics*; D013771:Tetralogy of Fallot / Q000235:genetics*; D014564:Urogenital Abnormalities / Q000235:genetics*
chemical_list: C572431:MRPL3 protein, human; C526186:MRPS22 protein, human; D024101:Mitochondrial Proteins; D012269:Ribosomal Proteins