Duplication of chromosome 2 in association with ventriculomegaly - a case report.
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.
Martin
W L
WL
Department of Fetal Medicine, Division of Reproduction and Child Health, Birmingham Women's Hospital, Edgbaston, Birmingham, B17 2TG, UK. bill.martin@bham-womens.thenhs.com
Pretlove
S
S
Mercer
A
A
Platt
C C
CC
Roberts
E
E
Davison
V
V
Kilby
M D
MD
D000328:Adult; D002552:Cerebral Ventricles / Q000002:abnormalities*; D002889:Chromosomes, Human, Pair 2; D005260:Female; D005312:Fetal Blood / Q000166:cytology; D020440:Gene Duplication; D006801:Humans; D017403:In Situ Hybridization; D007621:Karyotyping; D008279:Magnetic Resonance Imaging; D011247:Pregnancy; D014314:Trisomy; D016216:Ultrasonography, Prenatal