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

Folasade I. Kehinde, Carol E. Anderson, Jane E. Mcgowan, Reena N. Jethva, Mohammed A. Wahab, Adina R. Glick, Mark R. Sterner, Judy M. Pascasio, Hope H. Punnett, Jinglan Liu

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Pages (from-to)3187-3193
Number of pages7
JournalAmerican Journal of Medical Genetics, Part A
Volume164
Issue number12
DOIs
StatePublished - Dec 1 2014
Externally publishedYes

Fingerprint

Congenital Heart Defects
Trisomy
Cytogenetics
Single Umbilical Artery
Chromosome Disorders
Holoprosencephaly
Nipples
Fetal Growth Retardation
Cleft Lip
Live Birth
Cleft Palate
Hydrocephalus
Renal Insufficiency
Ear
Trisomy Chromosome 22
Heart Diseases
Neck
Extremities
Heart Failure
Kidney

Keywords

  • Balanced translocation
  • Gene density
  • Liveborn
  • Non-mosaic
  • Trisomy 22

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Medicine(all)

Cite this

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. / Kehinde, Folasade I.; Anderson, Carol E.; Mcgowan, Jane E.; Jethva, Reena N.; Wahab, Mohammed A.; Glick, Adina R.; Sterner, Mark R.; Pascasio, Judy M.; Punnett, Hope H.; Liu, Jinglan.

In: American Journal of Medical Genetics, Part A, Vol. 164, No. 12, 01.12.2014, p. 3187-3193.

Research output: Contribution to journalArticle

Kehinde, FI, Anderson, CE, Mcgowan, JE, Jethva, RN, Wahab, MA, Glick, AR, Sterner, MR, Pascasio, JM, Punnett, HH & Liu, J 2014, '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, vol. 164, no. 12, pp. 3187-3193. https://doi.org/10.1002/ajmg.a.36778
Kehinde, Folasade I. ; Anderson, Carol E. ; Mcgowan, Jane E. ; Jethva, Reena N. ; Wahab, Mohammed A. ; Glick, Adina R. ; Sterner, Mark R. ; Pascasio, Judy M. ; Punnett, Hope H. ; Liu, Jinglan. / 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. In: American Journal of Medical Genetics, Part A. 2014 ; Vol. 164, No. 12. pp. 3187-3193.
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T2 - Case report and review of the literature

AU - Kehinde, Folasade I.

AU - Anderson, Carol E.

AU - Mcgowan, Jane E.

AU - Jethva, Reena N.

AU - Wahab, Mohammed A.

AU - Glick, Adina R.

AU - Sterner, Mark R.

AU - Pascasio, Judy M.

AU - Punnett, Hope H.

AU - Liu, Jinglan

PY - 2014/12/1

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N2 - 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.

AB - 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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KW - Gene density

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KW - Non-mosaic

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