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Results: 4

1.
Figure 3

Figure 3. From: Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption.

A: Deletion of 185 probes (0.83 Mb) on 16p13.11 found by chromosomal microarray in Patient LP97-141a1. B–F: Quantitative PCR of five probes flanking NDE1 demonstrated the 16p13.11 deletion in LP97-141a1 to be inherited from the father. The deletion of NDE1 in Patient LR01-271 was shown by qPCR to be inherited from the mother.

Alex R Paciorkowski, et al. Am J Med Genet A. 2013 July;161(7):1523-1530.
2.
Figure 1

Figure 1. From: Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption.

Patient LP97-141a1 at 5 months (A) and at 15 years of age (B) showing severe microcephaly, mild prognathism that developed over time, but otherwise non-dysmorphic facies.

Alex R Paciorkowski, et al. Am J Med Genet A. 2013 July;161(7):1523-1530.
3.
Figure 4

Figure 4. From: Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption.

A: NDE1 sequence chromatogram of (top to bottom) LP97-141a1, affected products of conception (LP97-141a3), father (LP97-141f), and mother (LP97-141m). Arrow shows hemizygous c.142C>T (R44X) in affected individuals, inherited from the mother. The single peak at the mutation in LP97-141a3 indicates the presence of only one allele, suggesting the deletion of the homologous copy of NDE1. B: Sequence chromatograms of LR01-271, father (LR01-271f), and mother (LR01-271m). The mother is hemizygous for a normal copy of NDE1. Red brackets show the two bases normal in the mother but heterozygously deleted in the father (c.1020-2021het_delGA). The proband inherited the mother’s total NDE1 deletion and the father’s GA-deletion to create a compound heterozygous loss of normal NDE1.

Alex R Paciorkowski, et al. Am J Med Genet A. 2013 July;161(7):1523-1530.
4.
Figure 2

Figure 2. From: Deletion 16p13.11 uncovers NDE1 mutations on the non-deleted homolog and extends the spectrum of severe microcephaly to include fetal brain disruption.

Brain MRI of Patient LP97-141a1 showing agenesis of the corpus callosum on sagittal T1 view (A). There is also increased extra-axial fluid in the posterior fossa. Axial T2 view (B) shows a very simplified gyral pattern, with underdevelopment of the posterior midline cortex at the level of the thalami. There is a polymicrogyria-like cortical dysplasia. Coronal T2 view (C) shows increased extra-axial space in the intrahemispheric fissure with communication with the left lateral ventricle. Brain MRI of Patient LR01-271 demonstrated similar agenesis of the corpus callosum, disproportionately small brainstem, and increased posterior fossa extra-axial fluid on sagittal T1 view (D). Axial T2 view at the thalami demonstrated a large interhemispheric fluid space adjacent to the right lateral ventricle (E). This fluid space is also seen on coronal T2 view (F) and appears to communicate with the right lateral ventricle.

Alex R Paciorkowski, et al. Am J Med Genet A. 2013 July;161(7):1523-1530.

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