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Duplication of chromosome 2 in association with ventriculomegaly — a case report
Author(s) -
Martin W. L.,
Pretlove S.,
Mercer A.,
Platt C. C.,
Roberts E.,
Davison V.,
Kilby M. D.
Publication year - 2001
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.216
Subject(s) - ventriculomegaly , dup , gene duplication , macrocephaly , prenatal diagnosis , abnormality , medicine , chromosome abnormality , karyotype , genetics , chromosome , biology , pathology , fetus , pregnancy , psychiatry , gene
Abstract This is a case report of the prenatal diagnosis of a de novo interstitial duplication of chromosome 2 (46,XX,dup(2)(p13p21) de novo ) with an associated phenotypic abnormality. This chromosomal duplication is rare, only one has previously been described prenatally. Postnatal reports of similar duplications in this region have described associated dysmorphic features and significant neurodevelopmental delay. In our case, the only ultrasound finding was moderately severe ventriculomegaly. At post‐mortem, ventriculomegaly was confirmed and there was associated macrocephaly (head circumference above the 97th centile) with no dysmorphic features seen. Copyright © 2001 John Wiley & Sons, Ltd.