Multiple congenital anomaly/mental retardation (MCA/MR) syndrome with Goldenhar complex due to a terminal del(22q)

Herman, Gail E.; Greenberg, Frank; Ledbetter, David H.; Optiz, John M.; Reynolds, James F.

doi:10.1002/ajmg.1320290423

Cited by 76 publications

(54 citation statements)

References 21 publications

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“…To our knowledge, however, deletion of 22q13 band has been reported in only 18 patients [Herman et al, 1988;Romain et al, 1990;Zwaigenbaum et al, 1990;Narahara et al, 1992;Phelan et al, 1992;Nesslinger et al, 1994;Dohney et al, 1997;Wong et al, 1997;Schröder et al, 1998]. All of them were a terminal deletion involving 22q13, but only one had interstitial deletion of this segment [Romain et al, 1990].…”

Section: Introductionmentioning

confidence: 89%

Girl with accelerated growth, hearing loss, inner ear anomalies, delayed myelination of the brain, and del(22)(q13.1q13.2)

et al. 2000

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We report on an 18-month-old Japanese girl with 46,XX,del(22)(q13.1q13.2). To our knowledge, this is the first report of a case of interstitial deletion of a 22q13.1-q13.2 segment. Clinical features included hearing loss accompanied by inner ear anomalies, hypotonia and minor anomalies, such as a long philtrum, full eyelids, epicanthus, left transverse palmar crease and psychomotor developmental delay. Despite the chromosomal deletion, her physical growth was accelerated: her height was between the 75th and 90th percentiles for her age. Her brain MRI showed signs of delayed myelination. The three-dimensional MRI of the inner ear showed abnormalities of the cochlea and vestibule in both ears. Clinical features of the patient are similar to those of a patient with a del(22)(q13.1q13.33) karyotype previously reported by Romain et al.

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Section: Introductionmentioning

confidence: 89%

Girl with accelerated growth, hearing loss, inner ear anomalies, delayed myelination of the brain, and del(22)(q13.1q13.2)

et al. 2000

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“…However, several chromosomal rearrangements involving the 22q11.21 region have been found in patients with OAVS [Herman et al, 1988;Pridjian et al, 1995;Hathout et al, 1998;Derbent et al, 2003;Jackson et al, 2007;Xu et al, 2008;Digilio et al, 2009;Lafay-Cousin et al, 2009;Rosa et al, 2010;Tan et al, 2011;Quintero-Rivera and Martinez-Agosto, 2013;Torti et al, 2013;dos Santos et al, 2014;Beleza-Meireles et al, 2015], pointing to this region as a genomic candidate locus for the syndrome.…”

Section: Discussionmentioning

confidence: 99%

“…Several chromosomal abnormalities have also been found in association with OAVS, suggesting different chromosomal candidate regions [Rooryck et al, 2010;Brun et al, 2012;Ballesta-Martínez et al, 2013;BelezaMeireles et al, 2014]. However, chromosome 22 anomalies have been most frequently reported in patients with OAVS, particularly distal 22q deletions [Herman et al, 1988;Kobrynski et al, 1993;Balci et al, 2006;Xu et al, 2008;Digilio et al, 2009;Tan et al, 2011;Quintero-Rivera and Martinez-Agosto, 2013;Torti et al, 2013;dos Santos et al, 2014;Beleza-Meireles et al, 2015].…”

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confidence: 99%

Atypical 581-kb 22q11.21 Deletion in a Patient with Oculo-Auriculo-Vertebral Spectrum Phenotype

Colovati

Bragagnolo

Guilherme

et al. 2015

Cytogenet Genome Res

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The oculo-auriculo-vertebral spectrum (OAVS) is defined as a group of malformations involving the ears, mouth, mandible, eyes, and cervical spine. Establishing an accurate clinical diagnosis of OAVS is a challenge for clinical geneticists, not only because these patients display heterogeneous phenotypes, but also because its etiology encompassesenvironmental factors, unknown genetic factors and different chromosome aberrations. To date, several chromosomal abnormalities have been associated with the syndrome, most frequently involving chromosome 22. In the literature, six 22q11.2 microdeletions have been described within the same region, suggesting possible OAVS candidate genes in this segment. Here, we report on a patient with an ∼581-kb 22q11.21 deletion, detected by genomic array and MLPA. This is the 7th case described with OAVS and 22q deletion,suggesting that the 22q11.2 region may be related to the regulation of body symmetry and facial development.

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“…Meiotic recombination of a maternal pericentric inversion resulted in the loss of 22q12 to the 22q terminus. Herman et al [1988] reported a terminal deletion of chromosome 22q13.31 in a 16-month-old male with features of Goldenhar complex. Phelan et al [1988] described hypotonia associated with a de novo deletion of 22q13.3 in a newborn male who subsequently demonstrated global developmental delay, diffuse hypotonia, normal growth, and minor dysmorphic features.…”

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confidence: 99%

The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome)

Phelan

McDermid²

2011

Mol Syndromol

394

320

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The 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome, is a contiguous gene disorder resulting from deletion of the distal long arm of chromosome 22. In addition to normal growth and a constellation of minor dysmorphic features, this syndrome is characterized by neurological deficits which include global developmental delay, moderate to severe intellectual impairment, absent or severely delayed speech, and neonatal hypotonia. In addition, more than 50% of patients show autism or autistic-like behavior, and therefore it can be classified as a syndromic form of autism spectrum disorders (ASD). The differential diagnosis includes Angelman syndrome, velocardiofacial syndrome, fragile X syndrome, and FG syndrome. Over 600 cases of 22q13.3 deletion syndrome have been documented. Most are terminal deletions of ∼100 kb to >9 Mb, resulting from simple deletions, ring chromosomes, and unbalanced translocations. Almost all of these deletions include the gene SHANK3 which encodes a scaffold protein in the postsynaptic densities of excitatory synapses, connecting membrane-bound receptors to the actin cytoskeleton. Two mouse knockout models and cell culture experiments show that SHANK3 is involved in the structure and function of synapses and support the hypothesis that the majority of 22q13.3 deletion syndrome neurological defects are due to haploinsufficiency of SHANK3, although other genes in the region may also play a role in the syndrome. The molecular connection to ASD suggests that potential future treatments may involve modulation of metabotropic glutamate receptors.

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Multiple congenital anomaly/mental retardation (MCA/MR) syndrome with Goldenhar complex due to a terminal del(22q)

Cited by 76 publications

References 21 publications

Girl with accelerated growth, hearing loss, inner ear anomalies, delayed myelination of the brain, and del(22)(q13.1q13.2)

Girl with accelerated growth, hearing loss, inner ear anomalies, delayed myelination of the brain, and del(22)(q13.1q13.2)

Atypical 581-kb 22q11.21 Deletion in a Patient with Oculo-Auriculo-Vertebral Spectrum Phenotype

The 22q13.3 Deletion Syndrome (Phelan-McDermid Syndrome)

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