TY - JOUR
T1 - Molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 8 or r(8)(::p12→q13.1::) associated with phenotypic abnormalities
AU - Chen, Chih Ping
AU - Lin, Shuan Pei
AU - Lin, Yi Hui
AU - Chern, Schu Rern
AU - Wu, Peih Shan
AU - Chen, Yen Ni
AU - Chen, Shin Wen
AU - Yang, Chien Wen
AU - Chen, Wen Lin
AU - Wang, Wayseen
N1 - Publisher Copyright:
© 2016
PY - 2016/12/1
Y1 - 2016/12/1
N2 - Objective We present molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome (sSMC) derived from chromosome 8. Materials and Methods A 35-year-old woman underwent amniocentesis at 16 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XY,+mar[20]/46,XY[39]. However, array comparative genomic hybridization analysis on the subcultured amniocytes revealed no genomic imbalance. Prenatal ultrasound showed bilateral ventriculomegaly, intrauterine growth restriction, and an enlarged right atrium. At 36 weeks of gestation, a 2380-g baby was delivered with mild facial dysmorphism. The baby postnatally manifested right hydronephrosis, vesicoureteral reflux, hypospadias, hypotonia, strabismus, developmental delay and mild mental retardation. Array comparative genomic hybridization and metaphase fluorescence in situ hybridization analyses were performed on the peripheral blood to determine the origin and mosaicism of the sSMC, and quantitative fluorescent polymerase chain reaction was used to exclude uniparental disomy. Results The blood had a karyotype of 47,XY,+mar[17]/46,XY[23]. Array comparative genomic hybridization revealed arr 8p12q13.1 (33,476,753–67,428,722) × 2.40 (Log2 ratio = 0.24) encompassing 98 Online Mendelian Inheritance in Man (OMIM) genes including CHD7, consistent with 30–40% mosaicism for r(8)(::p12→q13.1::). Metaphase fluorescence in situ hybridization identified the sSMC(8) in 21/33 of cultured lymphocytes. Quantitative fluorescent polymerase chain reaction excluded uniparental disomy 8. Conclusion Mosaic sSMC(8) derived from r(8)(::p12→q13.1::) can present phenotypic abnormalities. Chromosome 8q12 duplication syndrome should be included in differential diagnosis when an sSMC(8) contains 8q12.2 and CHD7.
AB - Objective We present molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome (sSMC) derived from chromosome 8. Materials and Methods A 35-year-old woman underwent amniocentesis at 16 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XY,+mar[20]/46,XY[39]. However, array comparative genomic hybridization analysis on the subcultured amniocytes revealed no genomic imbalance. Prenatal ultrasound showed bilateral ventriculomegaly, intrauterine growth restriction, and an enlarged right atrium. At 36 weeks of gestation, a 2380-g baby was delivered with mild facial dysmorphism. The baby postnatally manifested right hydronephrosis, vesicoureteral reflux, hypospadias, hypotonia, strabismus, developmental delay and mild mental retardation. Array comparative genomic hybridization and metaphase fluorescence in situ hybridization analyses were performed on the peripheral blood to determine the origin and mosaicism of the sSMC, and quantitative fluorescent polymerase chain reaction was used to exclude uniparental disomy. Results The blood had a karyotype of 47,XY,+mar[17]/46,XY[23]. Array comparative genomic hybridization revealed arr 8p12q13.1 (33,476,753–67,428,722) × 2.40 (Log2 ratio = 0.24) encompassing 98 Online Mendelian Inheritance in Man (OMIM) genes including CHD7, consistent with 30–40% mosaicism for r(8)(::p12→q13.1::). Metaphase fluorescence in situ hybridization identified the sSMC(8) in 21/33 of cultured lymphocytes. Quantitative fluorescent polymerase chain reaction excluded uniparental disomy 8. Conclusion Mosaic sSMC(8) derived from r(8)(::p12→q13.1::) can present phenotypic abnormalities. Chromosome 8q12 duplication syndrome should be included in differential diagnosis when an sSMC(8) contains 8q12.2 and CHD7.
KW - CHD7
KW - chromosome 8q12 duplication syndrome
KW - mosaicism
KW - ring chromosome 8
KW - small supernumerary marker chromosome 8
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U2 - 10.1016/j.tjog.2016.08.002
DO - 10.1016/j.tjog.2016.08.002
M3 - Article
C2 - 28040132
AN - SCOPUS:85006757650
SN - 1028-4559
VL - 55
SP - 852
EP - 855
JO - Taiwanese Journal of Obstetrics and Gynecology
JF - Taiwanese Journal of Obstetrics and Gynecology
IS - 6
ER -