Postnatal diagnosis of de novo complex der(8) in a boy with prenatal diagnosis of recombinant chromosome 8 syndrome

Marina S. Oren; Jenny E. Camacho; Hongyan Xie; Jean Lowe; Tom Cushing; Carol Clericuzio; Jessie R. Maxwell

doi:10.1002/ccr3.2109

Postnatal diagnosis of de novo complex der(8) in a boy with prenatal diagnosis of recombinant chromosome 8 syndrome

Marina S. Oren, Jenny E. Camacho, Hongyan Xie, Jean Lowe, Tom Cushing, Carol Clericuzio, Jessie R. Maxwell

Research output: Contribution to journal › Article › peer-review

Abstract

Recombinant chromosome 8 syndrome is caused by duplication of 8q and deletion of 8p. A fetus with anomalies was misdiagnosed with this syndrome based on an amniocyte karyotype. Postnatal chromosomal microarray and other studies identified a de novo derivative chromosome 8. For fetal anomalies, detailed genetic studies may be required.

Original language	English (US)
Pages (from-to)	898-902
Number of pages	5
Journal	Clinical Case Reports
Volume	7
Issue number	5
DOIs	https://doi.org/10.1002/ccr3.2109
State	Published - May 2019
Externally published	Yes

Keywords

congenital heart disease
double outlet right ventricle
myelomeningocele
neural tube defect
recombinant chromosome 8

ASJC Scopus subject areas

Medicine(all)

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10.1002/ccr3.2109

Cite this

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title = "Postnatal diagnosis of de novo complex der(8) in a boy with prenatal diagnosis of recombinant chromosome 8 syndrome",

abstract = "Recombinant chromosome 8 syndrome is caused by duplication of 8q and deletion of 8p. A fetus with anomalies was misdiagnosed with this syndrome based on an amniocyte karyotype. Postnatal chromosomal microarray and other studies identified a de novo derivative chromosome 8. For fetal anomalies, detailed genetic studies may be required.",

keywords = "congenital heart disease, double outlet right ventricle, myelomeningocele, neural tube defect, recombinant chromosome 8",

author = "Oren, {Marina S.} and Camacho, {Jenny E.} and Hongyan Xie and Jean Lowe and Tom Cushing and Carol Clericuzio and Maxwell, {Jessie R.}",

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AU - Oren, Marina S.

AU - Camacho, Jenny E.

AU - Xie, Hongyan

AU - Lowe, Jean

AU - Cushing, Tom

AU - Clericuzio, Carol

AU - Maxwell, Jessie R.

PY - 2019/5

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AB - Recombinant chromosome 8 syndrome is caused by duplication of 8q and deletion of 8p. A fetus with anomalies was misdiagnosed with this syndrome based on an amniocyte karyotype. Postnatal chromosomal microarray and other studies identified a de novo derivative chromosome 8. For fetal anomalies, detailed genetic studies may be required.

KW - congenital heart disease

KW - double outlet right ventricle

KW - myelomeningocele

KW - neural tube defect

KW - recombinant chromosome 8

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Postnatal diagnosis of de novo complex der(8) in a boy with prenatal diagnosis of recombinant chromosome 8 syndrome

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

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