Open AccessPostnatal diagnosis of de novo complex der(8) in a boy with prenatal diagnosis of recombinant chromosome 8 syndrome
Author(s) -
Oren Marina S.,
Camacho Jenny E.,
Xie Hongyan,
Lowe Jean,
Cushing Tom,
Clericuzio Carol,
Maxwell Jessie R.
Publication year - 2019
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.2109
Subject(s) - derivative chromosome , prenatal diagnosis , karyotype , gene duplication , medicine , recombinant dna , chromosome , fetus , genetics , biology , gene , pregnancy
Key Clinical Message 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.