Corpus callosum agenesis, multiple cysts, skin defects, and subtle ocular abnormalities with a de novo mutation [45,XX,der(5), t(5;14) (pter;q11.2)]

Abstract

We report on a 2-year-old girl with a de novo mutation [45,XX,der(5),t(5;14) (pter;q11.2)] with corpus callosum agenesis, multiple cysts (cerebral and cardiac), subtle eye abnormalities, and at least two different skin defects, strongly indicating neuroectodermal involvement, as a neuromuscular choristoma (hamartoma) and an eccrine hamartoma. Fluorescent in situ hybridization with different single-locus probes showed that chromosome 5 has a very small deletion, confined to a region composed of repetitive sequences. By contrast, the long (q) arm of chromosome 14 seems to be much more involved in the rearrangement, with partial monosomy spanning from the centromere to the D14S72 and D14S261 loci. The extent of the deleted region of chromosome 14 is approximately 16 cM. To our knowledge, this is the smallest reported deletion involving the chromosome 14q11.2 region to be associated with a developmental disorder resulting in variable eye, skin, and brain anomalies. We suggest that a new syndrome, mimicking in some ways the MLS phenotype, is caused by a deletion in the chromosome 14q11.2 region.

Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children

“…The distal breakpoint on chromosome 14 was mapped by FISH between D14S72 (20.4 Mb, deleted) and D14S64 (23.6 Mb, retained). 6 Therefore, the deletion in this patient overlaps those in our patient 8326 and DECIPHER patient 126 up to 20.4 Mb distally and may also overlap our minimal critical deleted region. The patient described by Zanolli et al was a 2-year-old girl whose facial appearance is quite similar to that of our patients ( figure 1D).…”

“…The only previously reported patient with a deletion shown molecularly to overlap the region involved in our patients is that described by Zanolli et al 6 In this patient, a der(5)t(5;14)(5qterR5pter::14q11.2R14qter) chromosome replaced both a normal chromosome 5 and a chromosome 14, deleting the entire short arm and the centromere of chromosome 14 (chromosome 5 bore a very small deletion distal to the subtelomeric region, involving a region composed of repetitive sequence). This was a de novo rearrangement involving the paternal chromosomes.…”

Hereditary xanthinuria type II associated with mental delay, autism, cortical renal cysts, nephrocalcinosis, osteopenia, and hair and teeth defects

“…Cysts have previously been described in individuals with ectodermal defect, [11][12][13] mainly in the brain and cutis. Khoury et al 14 have described one individual with ED with renal cysts in the spongy medulla in association with congenital absence of teeth (anodontia).…”

Fibromatosis: a potential sequela of neuromuscular choristoma

“…After review, 48 cases were excluded for various reasons: 1) the diagnosis of NMC could not be clearly confirmed because of the lack of pathological information; [9][10][11]13,24,25,32,35,45 2) most cases involving cranial nerves were either difficult to assess because of limited information or seemed to represent a different pathology consisting of muscular and neural elements with a different relationship and often combined with the presence of lipomatous cells; 6,14,[16][17][18]23,26,37,39,40,43,46,49,51,53,54 and 3) the histological appearance of the lesion (relationship between muscular and neural elements) differed from classic NMC 15,19,34,38,41,48,52 or the lesion was associated with a spinal lipoma. 7,47 The reported case by Maher et al 29 is included in the patients encountered at our institution and excluded from the literature analysis.…”