Prenatal diagnosis of mosaic trisomy 9

Chen, Chih‐Ping; Hung, Fang-Yu; Su, Yi‐Ning; Chern, Schu‐Rern; Su, Jun-Wei; Lee, Chen‐Chi; Chen, Yuting; Chen, Wenlin; Wang, Wayseen

doi:10.1016/j.tjog.2011.10.031

Cited by 11 publications

(8 citation statements)

References 7 publications

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“…Full trisomy 9 would have been lethal in utero, but the mosaicism allowed the infant to survive. 15 Skeletal abnormalities include joint dislocations and deformations. 14 Further symptoms that may be exhibited with trisomy 9 include, but are not limited to, abnormal facies, skeletal abnormalities, congenital heart disease, genitourinary anomalies, and hypoplastic external genitalia.…”

Section: Etiologymentioning

confidence: 99%

“…13 Most infants affected with trisomy 9 do not survive the early neonatal period because of failure to thrive and severe mental disability. 15 Ventricular septal defect is the most commonly seen congenital heart defect. Facial features can include a bulbous nose, low-set ears, microphthalmia, a small mouth, and a high-arched palate.…”

Section: Etiologymentioning

confidence: 99%

“…14 Further symptoms that may be exhibited with trisomy 9 include, but are not limited to, abnormal facies, skeletal abnormalities, congenital heart disease, genitourinary anomalies, and hypoplastic external genitalia. 15 Genitourinary abnormalities include hypoplastic genitalia, cryptorchidism, cystic kidneys, and hydronephrosis. 15 Skeletal abnormalities include joint dislocations and deformations.…”

Section: Etiologymentioning

confidence: 99%

“…Facial features can include a bulbous nose, low-set ears, microphthalmia, a small mouth, and a high-arched palate. 15 Central nervous system abnormalities include hydrocephalus and Dandy Walker malformation. 15 Ventricular septal defect is the most commonly seen congenital heart defect.…”

Section: Etiologymentioning

confidence: 99%

“…15 Skeletal abnormalities include joint dislocations and deformations. 15 Many of the features observed can resemble trisomy 18, or Edward syndrome, that are proven to be fatal in most cases. 15 Genitourinary abnormalities include hypoplastic genitalia, cryptorchidism, cystic kidneys, and hydronephrosis.…”

Section: Etiologymentioning

confidence: 99%

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Mosaic Trisomy 9 Hematopoietic Chimera

DeLoache

Bradshaw

2014

Advances in Neonatal Care

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A 1.57-kg infant presented at a major medical center in the southeastern United States at 32 weeks of gestation with growth restriction and no major anomalies after an uncomplicated pregnancy. At 1 month of life, the infant was found to be chimeric for blood types O and A. Genetic testing revealed mosaic trisomy 9 as the cause for the 2 distinct blood types. Without phenotypic presentation of trisomy 9, the infant's genetic diagnosis was not detected until an issue arose. Genetic diagnosis and treatment and future considerations are discussed in this article. Full-text English articles from CINAHL and PubMed were analyzed for assistance in understanding the infant's condition. Book chapters, review articles, and meta-analyses were also reviewed. Implications of this case study indicate that phenotypically normal presenting infants may still have underlying issues that should be investigated genetically when they arise. This article cannot be generalized to the population because of its specific situation, but the underlying concept can be applied to any case.

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Section: Etiologymentioning

confidence: 99%

Section: Etiologymentioning

confidence: 99%