Co-occurrence of non-mosaic trisomy 22 and inherited balanced t(4;6)(q33;q23.3) in a liveborn female: Case report and review of the literature

Trisomy 22 is the third most common autosomal trisomy occurring in about 0.4% of all clinically recognized pregnancies. Complete non‐mosaic trisomy 22 is extremely rare in live births. Most affected children die before one year of age. To date, only 29 liveborn cases have been reported and none has...

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Published in:	American journal of medical genetics. Part A Vol. 164A; no. 12; pp. 3187 - 3193
Main Authors:	Kehinde, Folasade I., Anderson, Carol E., McGowan, Jane E., Jethva, Reena N., Wahab, Mohammed A., Glick, Adina R., Sterner Jr, Mark R., Pascasio, Judy M., Punnett, Hope H., Liu, Jinglan
Format:	Journal Article
Language:	English
Published:	United States Blackwell Publishing Ltd 01-12-2014 Wiley Subscription Services, Inc
Subjects:	Abnormalities, Multiple - genetics Abnormalities, Multiple - pathology balanced translocation Chromosomes, Human, Pair 22 - genetics Chromosomes, Human, Pair 4 - genetics Chromosomes, Human, Pair 6 - genetics Cytogenetic Analysis Fatal Outcome Female gene density Humans Karyotyping liveborn non-mosaic Translocation, Genetic - genetics Trisomy - genetics Trisomy - pathology trisomy 22 balanced translocation gene density liveborn non-mosaic trisomy 22
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Summary:	Trisomy 22 is the third most common autosomal trisomy occurring in about 0.4% of all clinically recognized pregnancies. Complete non‐mosaic trisomy 22 is extremely rare in live births. Most affected children die before one year of age. To date, only 29 liveborn cases have been reported and none has carried an additional genetic lesion. In this report, we describe the clinical presentation, cytogenetic, and cytogenomic findings in a liveborn female with complete non‐mosaic trisomy 22 as well as a paternally inherited, balanced reciprocal chromosomal rearrangement t(4;6)(q33;q23.3). The proband manifested features commonly seen in individuals with non‐mosaic trisomy 22 such as intrauterine growth retardation (IUGR), single umbilical artery, cranial abnormalities, short neck, cleft lip and palate, dysmorphic ears, hypoplastic nipples, digital malformation, congenital heart defects, dysplastic kidneys, and genital anomalies. In addition, she had lobar holoprosencephaly, aqueductal stenosis, and limb and eye problems that have not been associated with complete trisomy 22 in previous reports. She died at 35 days of age of complex heart disease and renal failure. We are hereby expanding the cytogenetic and clinical spectrum of this rare chromosome disorder. Clinical features of liveborn children with non‐mosaic trisomy 22 are reviewed and compared to those in our proband. The impact of genomic content in relation to the survival of trisomies in humans is also discussed. © 2014 Wiley Periodicals, Inc.
Bibliography:	ArticleID:AJMGA36778 ark:/67375/WNG-BKGV8GM5-W istex:927CA43F13265417A41EDFBBD07E965EA77BAC67 ObjectType-Case Study-3 SourceType-Scholarly Journals-1 content type line 23 ObjectType-Review-1 ObjectType-Feature-5 ObjectType-Report-2 ObjectType-Article-4 ObjectType-Article-1 ObjectType-Feature-2
ISSN:	1552-4825 1552-4833
DOI:	10.1002/ajmg.a.36778