Taiwanese journal of obstetrics & gynecology · 2012
Rapid aneuploidy diagnosis of partial trisomy 7q (7q34→qter) and partial monosomy 10q (10q26.12→qter) by array comparative genomic hybridization using uncultured amniocytes.
Клинический случайСтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
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Chen Chih-Ping, Lin Shuan-Pei, Su Yi-Ning, Tsai Fuu-Jen, Wu Pei-Chen, Town Dai-Dyi, Chen Li-Feng, Lee Meng-Shan, Wang Wayseen
Аннотация
OBJECTIVE: To present rapid aneuploidy diagnosis (RAD) of partial trisomy 7q (7q34→qter) and partial monosomy 10q (10q26.12→qter) by array comparative genomic hybridization (aCGH) using uncultured amniocytes.
CASE REPORT: A 34-year-old, gravida 2, para 1, woman underwent amniocentesis at 20 weeks of gestation because of a previous mentally retarded child with an unbalanced reciprocal translocation inherited from the carrier father who had a karyotype of 46,XY,t(7;10) (q34;q26.12). Her first child was initially found to have a normal karyotype by routine cytogenetic analysis, but a cryptic chromosomal abnormality was subsequently diagnosed by aCGH. During this pregnancy, RAD by oligonucleotide-based aCGH using uncultured amniocytes revealed a 16.4-Mb duplication of 7q34-q36.3 and a 12.7-Mb deletion of 10q26.12-q26.3. Conventional cytogenetic analysis using cultured amniocytes revealed a karyotype of 46,XX,der(10)t(7;10)(q34;q26.12)pat. The parents elected to terminate the pregnancy. A malformed female fetus was delivered with a high prominent forehead, hypertelorism, epicanthic folds, a broad depressed nasal bridge, a prominent nose with anteverted nostrils, micrognathia, a short neck, large low-set ears, clinodactyly, small big toes, and normal female external genitalia.
CONCLUSION: aCGH is a useful tool for RAD of subtle chromosomal rearrangements in pregnancy, especially under the circumstance of a previous abnormal child with an unbalanced translocation derived from a parental subtle reciprocal translocation.
CASE REPORT: A 34-year-old, gravida 2, para 1, woman underwent amniocentesis at 20 weeks of gestation because of a previous mentally retarded child with an unbalanced reciprocal translocation inherited from the carrier father who had a karyotype of 46,XY,t(7;10) (q34;q26.12). Her first child was initially found to have a normal karyotype by routine cytogenetic analysis, but a cryptic chromosomal abnormality was subsequently diagnosed by aCGH. During this pregnancy, RAD by oligonucleotide-based aCGH using uncultured amniocytes revealed a 16.4-Mb duplication of 7q34-q36.3 and a 12.7-Mb deletion of 10q26.12-q26.3. Conventional cytogenetic analysis using cultured amniocytes revealed a karyotype of 46,XX,der(10)t(7;10)(q34;q26.12)pat. The parents elected to terminate the pregnancy. A malformed female fetus was delivered with a high prominent forehead, hypertelorism, epicanthic folds, a broad depressed nasal bridge, a prominent nose with anteverted nostrils, micrognathia, a short neck, large low-set ears, clinodactyly, small big toes, and normal female external genitalia.
CONCLUSION: aCGH is a useful tool for RAD of subtle chromosomal rearrangements in pregnancy, especially under the circumstance of a previous abnormal child with an unbalanced translocation derived from a parental subtle reciprocal translocation.