Abstract This study aimed to analyze the clinical phenotype of chromosome 9p deletion or duplication and its relationship with karyotype. A patient, female, aged 6 months, visited the hospital due to motor developmental delay. Karyotype analysis identified abnormalities of chromosome 9 short arm, and high-throughput sequencing found 9p24.3-9p23 deletion and 9p23-9p13.1 duplication. Her parents had a normal karyotype. Karyotype analysis combined with high-throughput sequencing is of great significance for improving the efficiency of etiological diagnosis in children with motor developmental delay or multiple congenital deformities and mental retardation.
LU Bi-Yu,TAN Jian-Qiang,YUAN De-Jian et al. Clinical and cytogenetic study in a child with de novo chromosome 9 abnormality [J]. CJCP, 2018, 20(1): 52-55.
LU Bi-Yu,TAN Jian-Qiang,YUAN De-Jian et al. Clinical and cytogenetic study in a child with de novo chromosome 9 abnormality [J]. CJCP, 2018, 20(1): 52-55.
Frints SG, Froyen G, Marynen P, et al. X-linked mental retardation:vanishing boundaries between non-specific (MRX) and syndromic (MRXS) forms[J]. Clin Genet, 2002, 62(6):423-432.
[2]
Rethore MO, Larget-Piet L, Abonyi D, et al. 4 cases of trisomy forthe short arm of chromosome 9. Individualization of a newmorbid entity[J]. Ann Genet, 1970, 13(4):217-232.
[3]
Wilson GN, Raj A, Baker D. The phenotypic and cytogenetic spectrum of partial trisomy 9[J]. Am J Med Genet, 1985, 20(2):277-282.
[4]
Huret JL, Leonard C, Forestier B, et al. Eleven new cases of del(9p) and features from 80 case[J]. J Med Genet, 1988, 25(11):741-749.
[5]
Swinkels ME, Simons A, Smeets DF, et al. Clinical and cytogenetic characterization of 13 dutch patients with deletion 9p syndrome:delineation of the critical region for a consensus phenotype[J]. Am J Med Genet A, 2008, 146A(11):1430-1438.
[6]
Yang HX, Feng JZ, Wei SY, et al. Chromosome karyotype analysis of umbilical blood samples in 2036 newborns[J]. Int Reprod Health Fam Plan, 2014, 33:478-480.
[7]
Zeitlin J, Mohangoo A, Cuttini M, et al. The European perinatal health report:comparing the health and care of pregnant women and newborn babies in Europe[J]. J Epidemiol Community Health, 2009, 63(9):681-682.
[8]
Abu-Amero KK, Hellani AM, Salih MA, et al. A de novo marker chromosome derived from 9p in a patient with 9p partial duplication syndrome and autism features:genotype-phenotype correlation[J]. BMC Med Genet, 2010, 11:135.
[9]
Amasdl S, Natiq A, Elalaoui SC, et al. Insulin-like growth factor type 1 deficiency in a Moroccan patient with de novo inverted duplication 9p24p12 and developmental delay:a case report[J]. J Med Case Rep, 2016, 10(1):122.
[10]
Hou QF, Wu D, Chu Y, et al. Clinical findings and molecular cytogenetic study of de novo pure chromosome 9p deletion:Pre and postnatal diagnosis[J]. Taiwan J Obstet Gynecol, 2016, 55(6):867-870.
[11]
Onesimo R, Orteschi D, Scalzone M, et al. Chromosome 9p deletion syndrome and sex reversal:novel findings and redefinition of the critically deleted regions[J]. Am J Med Genet A, 2012, 158A(9):2266-2271.
[12]
Vialard F, Ottolenghi C, Gonzales M, et al. Deletion of 9p associated with gonadal dysfunction in 46,XY but not in 46,XX human fetuses[J]. J Med Genet, 2002, 39(7):514-518.
[13]
Witters I, Vermeesch JR, Moerman PH, et al. Partial trisomy 3p/monosomy 9p with sex reversal[J]. Ultrasound Obstet Gynecol, 2004, 23(4):418-419.
[14]
Chen CP, Lin CL, Chen LL, et al. Prenatal diagnosis of mosaic ringchromosome 9[J]. Prenat Diagn, 2006, 26(9):870-871.
[15]
Hou WC, Chen CP, Hwang KS, et al. Prenatal diagnosis of a de novo 9p terminal chromosomal deletion in a fetus with major congenital anomalies[J]. Taiwan J Obstet Gynecol, 2014, 53(4):602-605.
