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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Bibliographic Details
Published in:Taiwanese journal of obstetrics & gynecology Vol. 58; no. 1; pp. 36 - 39
Main Authors: Farcas, Simona, Erdelean, Dragos, Anne-Elise Szekely, Flavia, Navolan, Dan, Andreescu, Nicoleta, Cioca, Andreea
Format: Journal Article
Language:English
Published: China (Republic : 1949- ) Elsevier B.V 01.01.2019
Elsevier
Subjects:
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
Chromosome 8 duplication
Array comparative genomic hybridization
Prenatal diagnosis
ISSN:1028-4559, 1875-6263, 1875-6263
Online Access:Get full text
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Summary: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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ISSN:1028-4559
1875-6263
1875-6263
DOI:10.1016/j.tjog.2018.11.005