Journal article
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
American journal of medical genetics. Part A, v 164A(12), pp 3187-3193
Dec 2014
PMID: 25257307
Featured in Collection : UN Sustainable Development Goals @ Drexel
Abstract
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.
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Details
- Title
- 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
- Creators
- Folasade I Kehinde - St. Christopher's Hospital for ChildrenCarol E Anderson - St. Christopher's Hospital for ChildrenJane E McGowan - St. Christopher's Hospital for ChildrenReena N Jethva - St. Christopher's Hospital for ChildrenMohammed A Wahab - St. Christopher's Hospital for ChildrenAdina R Glick - St. Christopher's Hospital for ChildrenMark R Sterner, JrJudy M Pascasio - St. Christopher's Hospital for ChildrenHope H Punnett - St. Christopher's Hospital for ChildrenJinglan Liu - St. Christopher's Hospital for Children
- Publication Details
- American journal of medical genetics. Part A, v 164A(12), pp 3187-3193
- Publisher
- Wiley
- Resource Type
- Journal article
- Language
- English
- Academic Unit
- Pediatrics; Pathology (and Laboratory Medicine)
- Web of Science ID
- WOS:000345293300034
- Scopus ID
- 2-s2.0-84911132784
- Other Identifier
- 991019168181404721
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- Web of Science research areas
- Genetics & Heredity