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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.

SUBMITTER: Oren MS

PROVIDER: S-EPMC6509895 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature

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

Oren Marina S MS Camacho Jenny E JE Xie Hongyan H Lowe Jean J Cushing Tom T Clericuzio Carol C Maxwell Jessie R JR

Clinical case reports 20190325 5

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. ...[more]

PMID: 31110711

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