In:
Case Reports in Perinatal Medicine, Walter de Gruyter GmbH, Vol. 2, No. 1-2 ( 2013-07-01), p. 39-45
Abstract:
We present the prenatal detection of a 1p32.1p31.3 microdeletion (3.46 Mb) by array comparative genomic hybridization (CGH) associated with fetal agenesis of the corpus callosum (ACC) and cerebellar vermian hypoplasia. Analysis of cultured amniocytes showed a normal karyotype. Our observations strengthen the association between this locus and central nervous system development. In addition, the fetus reported herein underscores the importance of array CGH analysis when ACC is detected prenatally, especially when there are additional central nervous system anomalies, to search for submicroscopic imbalances which can facilitate further management and parental counselling. Moreover, the presence of urinary tract anomalies should alert the clinician to the possibility of a 1p interstitial deletion, although the absence of such does not exclude it. Further reports will help to provide more information on the long-term outcomes of individuals with such microdeletion as there are only limited data.
Type of Medium:
Online Resource
ISSN:
2192-8959
,
2192-8932
DOI:
10.1515/crpm-2012-0032
Language:
English
Publisher:
Walter de Gruyter GmbH
Publication Date:
2013
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