A rare case of partial trisomy 8q24.12-q24.3 and partial monosomy of 8q24.3: Prenatal diagnosis and clinical findings
We describe a rare case of “pure” 8q duplication diagnosed prenatally by conventional karyotyping, that was further characterized by array comparative genomic hybridization (aCGH). A 39-year-old, primigravida woman underwent amniocentesis at 23 weeks of gestation because of an abnormal second trimes...
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| Vydané v: | Taiwanese journal of obstetrics & gynecology Ročník 58; číslo 1; s. 36 - 39 |
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| Hlavní autori: | , , , , , |
| Médium: | Journal Article |
| Jazyk: | English |
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China (Republic : 1949- )
Elsevier B.V
01.01.2019
Elsevier |
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| ISSN: | 1028-4559, 1875-6263, 1875-6263 |
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| Abstract | We describe a rare case of “pure” 8q duplication diagnosed prenatally by conventional karyotyping, that was further characterized by array comparative genomic hybridization (aCGH).
A 39-year-old, primigravida woman underwent amniocentesis at 23 weeks of gestation because of an abnormal second trimester maternal serum screening for Down syndrome. Conventional cytogenetic analysis demonstrated a karyotype of 46,XX,der(8) (q24.12q24.3) and aCGH identified a duplication of approximately 27 Mb, affecting the distal region of chromosome 8q24.12-q24.3. Parenteral karyotype of both parents was normal and excluded familial translocation or other rearrangements. Although prenatal ultrasound examination showed multiple anomalies the parents decided to keep the pregnancy. The baby was born at 38 weeks of gestation, with an Apgar score of 2. The evolution was unfavorable, and he died within the first 24 h of birth.
Molecular investigations contribute to a more accurate characterization of the patients with these rare duplication, but also for estimating their prognosis. |
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| AbstractList | We describe a rare case of “pure” 8q duplication diagnosed prenatally by conventional karyotyping, that was further characterized by array comparative genomic hybridization (aCGH).
A 39-year-old, primigravida woman underwent amniocentesis at 23 weeks of gestation because of an abnormal second trimester maternal serum screening for Down syndrome. Conventional cytogenetic analysis demonstrated a karyotype of 46,XX,der(8) (q24.12q24.3) and aCGH identified a duplication of approximately 27 Mb, affecting the distal region of chromosome 8q24.12-q24.3. Parenteral karyotype of both parents was normal and excluded familial translocation or other rearrangements. Although prenatal ultrasound examination showed multiple anomalies the parents decided to keep the pregnancy. The baby was born at 38 weeks of gestation, with an Apgar score of 2. The evolution was unfavorable, and he died within the first 24 h of birth.
Molecular investigations contribute to a more accurate characterization of the patients with these rare duplication, but also for estimating their prognosis. We describe a rare case of "pure" 8q duplication diagnosed prenatally by conventional karyotyping, that was further characterized by array comparative genomic hybridization (aCGH).OBJECTIVEWe describe a rare case of "pure" 8q duplication diagnosed prenatally by conventional karyotyping, that was further characterized by array comparative genomic hybridization (aCGH).A 39-year-old, primigravida woman underwent amniocentesis at 23 weeks of gestation because of an abnormal second trimester maternal serum screening for Down syndrome. Conventional cytogenetic analysis demonstrated a karyotype of 46,XX,der(8) (q24.12q24.3) and aCGH identified a duplication of approximately 27 Mb, affecting the distal region of chromosome 8q24.12-q24.3. Parenteral karyotype of both parents was normal and excluded familial translocation or other rearrangements. Although prenatal ultrasound examination showed multiple anomalies the parents decided to keep the pregnancy. The baby was born at 38 weeks of gestation, with an Apgar score of 2. The evolution was unfavorable, and he died within the first 24 h of birth.CASE REPORTA 39-year-old, primigravida woman underwent amniocentesis at 23 weeks of gestation because of an abnormal second trimester maternal serum screening for Down syndrome. Conventional cytogenetic analysis demonstrated a karyotype of 46,XX,der(8) (q24.12q24.3) and aCGH identified a duplication of approximately 27 Mb, affecting the distal region of chromosome 8q24.12-q24.3. Parenteral karyotype of both parents was normal and excluded familial translocation or other rearrangements. Although prenatal ultrasound examination showed multiple anomalies the parents decided to keep the pregnancy. The baby was born at 38 weeks of gestation, with an Apgar score of 2. The evolution was unfavorable, and he died within the first 24 h of birth.Molecular investigations contribute to a more accurate characterization of the patients with these rare duplication, but also for estimating their prognosis.CONCLUSIONMolecular investigations contribute to a more accurate characterization of the patients with these rare duplication, but also for estimating their prognosis. Objective: We describe a rare case of “pure” 8q duplication diagnosed prenatally by conventional karyotyping, that was further characterized by array comparative genomic hybridization (aCGH). Case report: A 39-year-old, primigravida woman underwent amniocentesis at 23 weeks of gestation because of an abnormal second trimester maternal serum screening for Down syndrome. Conventional cytogenetic analysis demonstrated a karyotype of 46,XX,der(8) (q24.12q24.3) and aCGH identified a duplication of approximately 27 Mb, affecting the distal region of chromosome 8q24.12-q24.3. Parenteral karyotype of both parents was normal and excluded familial translocation or other rearrangements. Although prenatal ultrasound examination showed multiple anomalies the parents decided to keep the pregnancy. The baby was born at 38 weeks of gestation, with an Apgar score of 2. The evolution was unfavorable, and he died within the first 24 h of birth. Conclusion: Molecular investigations contribute to a more accurate characterization of the patients with these rare duplication, but also for estimating their prognosis. Keywords: Array comparative genomic hybridization, Chromosome 8 duplication, Prenatal diagnosis |
| Author | Anne-Elise Szekely, Flavia Navolan, Dan Erdelean, Dragos Farcas, Simona Cioca, Andreea Andreescu, Nicoleta |
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| Cites_doi | 10.1016/j.pediatrneurol.2012.03.014 10.1038/nature10423 10.1016/j.anngen.2004.07.004 10.1016/j.ajhg.2008.07.010 10.1111/j.1399-0004.1992.tb03234.x 10.1002/ajmg.a.37411 10.1002/ajmg.a.33237 10.1016/j.ejmg.2011.09.001 |
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| Keywords | Chromosome 8 duplication Array comparative genomic hybridization Prenatal diagnosis |
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| SubjectTerms | Abnormalities, Multiple - genetics Adult Amniocentesis Array comparative genomic hybridization Cesarean Section Chromosome 8 duplication Chromosome Duplication Chromosomes, Human, Pair 8 Fatal Outcome Female Humans Infant, Newborn Pregnancy Prenatal diagnosis Trisomy - diagnosis Ultrasonography, Prenatal |
| Title | A rare case of partial trisomy 8q24.12-q24.3 and partial monosomy of 8q24.3: Prenatal diagnosis and clinical findings |
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