Cryptic duplication of the distal segment of 22q due to a translocation (21;22): three case reports and a review of the literature

Feenstra, Ilse; Koolen, David A.; Pas, J. Van der; Hamel, B.C.J.; Mieloo, Hanneke; Smeets, Dominique; Ravenswaaij, Conny M. A. van

doi:10.1016/j.ejmg.2006.01.005

Cited by 33 publications

(31 citation statements)

References 18 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…This feature had been previously observed in 22q13 duplication syndrome 19. This feature is only present when 22q13.2 is duplicated.…”

Section: Discussionsupporting

confidence: 75%

Clinical and molecular characterization of a patient with a combination of a deletion and a duplication of 22q13 using array CGH

Ochando¹,

Urbano²,

Rueda³

et al. 2012

TACG

View full text Add to dashboard Cite

Phelan–McDermid syndrome is caused by the loss of terminal regions of different sizes at 22q13. There is a wide range of severity of symptoms in patients with a 22q13 deletion, but these patients usually show neonatal hypotonia, global developmental delay, and dysmorphic traits. We carried out a clinical and molecular characterization of a patient with neonatal hypotonia and dysmorphic features. Array-based comparative genomic hybridization showed an 8.24 Mb terminal deletion associated with a 0.20 Mb duplication. Characterization of patients with Phelan–McDermid syndrome both clinically and at the molecular level allows genotype-phenotype correlations that provide clues to help elucidate the clinical implications.

show abstract

“…This feature had been previously observed in 22q13 duplication syndrome 19. This feature is only present when 22q13.2 is duplicated.…”

Section: Discussionsupporting

confidence: 75%

Clinical and molecular characterization of a patient with a combination of a deletion and a duplication of 22q13 using array CGH

Ochando¹,

Urbano²,

Rueda³

et al. 2012

TACG

View full text Add to dashboard Cite

show abstract

“…There have been three reported cases of cryptic, terminal 22q duplication [Feenstra et al, 2006]. One of them carrying a terminal 22q duplication due to a de novo unbalanced translocation, der(21) t(21;22)(p13;q13.2) had some similarities in craniofacial features to both of our patients.…”

Section: Discussionmentioning

confidence: 54%

22q13 microduplication in two patients with common clinical manifestations: A recognizable syndrome?

Okamoto

Kubota

Nakamura

et al. 2007

American J of Med Genetics Pt A

View full text Add to dashboard Cite

We report here on two unrelated patients (Patients 1 and 2) with a cryptic microduplication involving a 22q13 segment. Both patients manifested infantile hypotonia, developmental delay, and growth deficiency. In addition, an abnormal signal intensity area was detected in the frontal white matter of Patient 2 by brain MRI. Whole-genome microarray comparative genomic hybridization for Patient 1 and fluorescence in situ hybridization analysis with 22q-subtelomeric probes performed in both patients showed a submicroscopic 22q13 duplication that involved the SHANK3 gene. The duplication in Patient 1 was de novo type, while that in Patient 2 was derived from a familial 17;22 translocation. The presence of common clinical manifestations in the two patients with the common duplicated region led to a conclusion that 22q terminal duplication is a recognizable clinical entity, that is, the 22q13 microduplication syndrome.

show abstract

“…On the other hand, the role of distal trisomy 22q is more difficult to be interpreted. In fact, former patients harboring this chromosomal abnormality alone had heterogeneous physical and behavioral impairments [Barajas-Barajas et al, 2004;Feenstra et al, 2006;Okamoto et al, 2007]. Nevertheless, the affected region in chromosome 22 harbors SHANK3 , and its duplication has been proposed to impair the functional structure of the postsynaptic density (PSD), as discussed in detail below [Han et al, 2013].…”

Section: Discussionmentioning

confidence: 99%

“…Duplications of the distal part of chromosome 22q are relatively rare events; when observed, they were associated with a highly variable phenotype, with features including severe growth retardation, cognitive delay, muscle hypotonia, hydrocephalus and microcephaly, various dysmorphic features (prominent forehead, deep-set eyes and ears, flat midface, broad and flat nasal bridge), cardiac abnormalities (pulmonal valve stenosis), epileptic seizures, and/or deafness [Barajas-Barajas et al, 2004;Feenstra et al, 2006;Okamoto et al, 2007].…”

mentioning

confidence: 99%

Novel Unbalanced Translocations Affecting the Long Arms of Chromosomes 10 and 22 Cause Complex Syndromes with Very Severe Neurodevelopmental Delay, Speech Impairment, Autistic Behavior, and Epilepsy

Coci

Auhuber

Langenbach

et al. 2017

Cytogenet Genome Res

View full text Add to dashboard Cite

Isolated abnormalities in terminal regions of chromosomes 10q and 22q were formerly described in patients affected by neuropsychological impairment, abnormal facies, and heterogeneous structural abnormalities of the body. Chromosomes 10q and 22q harbor important genes that play a major role in CNS development, like DOCK1 and SHANK3, and in overall body growth, like FGFR2 and HTRA1. By using clinical, neuroradiological, neurophysiological, and genetic assessment, we studied 3 siblings affected by 2 different forms of very severe neuropsychological impairment with structural physical abnormalities, epilepsy, and body overgrowth. The genetic analysis revealed 2 different unbalanced translocations t(10;22)(q26.13;q13.32) of genetic material between the long arms of chromosomes 10 and 22, deriving from a maternal balanced translocation. Consequences of the unbalanced translocation were the simultaneous partial monosomy of 10q26.13 to 10qter and partial trisomy of 22q13.32 to 22qter in 2 patients and the simultaneous trisomy distal q10 and monosomy distal q22 in 1 patient, respectively. To the best of our knowledge, we here describe for the first time a causal association between an unbalanced translocation t(10;22) affecting the long arms of both chromosomes 10 and 22 and a very severe neurodevelopmental delay in 3 siblings.

show abstract

Cryptic duplication of the distal segment of 22q due to a translocation (21;22): three case reports and a review of the literature

Cited by 33 publications

References 18 publications

Clinical and molecular characterization of a patient with a combination of a deletion and a duplication of 22q13 using array CGH

Clinical and molecular characterization of a patient with a combination of a deletion and a duplication of 22q13 using array CGH

22q13 microduplication in two patients with common clinical manifestations: A recognizable syndrome?

Novel Unbalanced Translocations Affecting the Long Arms of Chromosomes 10 and 22 Cause Complex Syndromes with Very Severe Neurodevelopmental Delay, Speech Impairment, Autistic Behavior, and Epilepsy

Contact Info

Product

Resources

About