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

1 Scopus citations

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)

Access to Document

10.1002/ccr3.2109

Cite this

@article{12da8a885d50486a80677922106500cf,

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.}",

note = "Publisher Copyright: {\textcopyright} 2019 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.",

year = "2019",

month = may,

doi = "10.1002/ccr3.2109",

language = "English (US)",

volume = "7",

pages = "898--902",

journal = "Clinical Case Reports",

issn = "2050-0904",

publisher = "John Wiley and Sons Ltd",

number = "5",

}

TY - JOUR

T1 - Postnatal diagnosis of de novo complex der(8) in a boy with prenatal diagnosis of recombinant chromosome 8 syndrome

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

Y1 - 2019/5

N2 - 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.

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

UR - http://www.scopus.com/inward/record.url?scp=85065478698&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85065478698&partnerID=8YFLogxK

U2 - 10.1002/ccr3.2109

DO - 10.1002/ccr3.2109

M3 - Article

C2 - 31110711

AN - SCOPUS:85065478698

VL - 7

SP - 898

EP - 902

JO - Clinical Case Reports

JF - Clinical Case Reports

SN - 2050-0904

IS - 5

ER -

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

Other files and links

Fingerprint

Cite this