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Page 1
16p12.2 Recurrent Deletion.
Girirajan S, Pizzo L, Moeschler J, Rosenfeld J. Girirajan S, et al. 2015 Feb 26 [updated 2018 Sep 13]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2015 Feb 26 [updated 2018 Sep 13]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 25719193 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: 16p12.2 recurrent deletion is characterized by variable clinical findings that do not constitute a recognizable syndrome. ...GENETIC COUNSELING: The 16p12.2 recurrent deletion is inherited in an autosomal dominan …
CLINICAL CHARACTERISTICS: 16p12.2 recurrent deletion is characterized by variable clinical findings that do not constit …
A clinical study of patients with pericentromeric deletion and duplication within 16p12.2-p11.2.
Okamoto N, Fujii T, Tanaka J, Saito K, Matsui T, Harada N. Okamoto N, et al. Am J Med Genet A. 2014 Jan;164A(1):213-9. doi: 10.1002/ajmg.a.36217. Epub 2013 Nov 20. Am J Med Genet A. 2014. PMID: 24259393
Several syndromes resulting from microdeletions or microduplications in this region have been reported. The chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-Mb [OMIM#613604] is characterized by minor facial anomalies, feeding difficulties, a significan …
Several syndromes resulting from microdeletions or microduplications in this region have been reported. The chromosome 16p12.2 …
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals.
Montanucci L, Lewis-Smith D, Collins RL, Niestroj LM, Parthasarathy S, Xian J, Ganesan S, Macnee M, Brünger T, Thomas RH, Talkowski M; Epi25 Collaborative; Helbig I, Leu C, Lal D. Montanucci L, et al. Nat Commun. 2023 Jul 20;14(1):4392. doi: 10.1038/s41467-023-39539-6. Nat Commun. 2023. PMID: 37474567 Free PMC article.
With the hypothesis that seizure disorders share genetic risk factors, we pooled CNV data from 10,590 individuals with seizure disorders, 16,109 individuals with clinically validated epilepsy, and 492,324 population controls and identified 25 genome-wide significant loci, 22 of w …
With the hypothesis that seizure disorders share genetic risk factors, we pooled CNV data from 10,590 individuals with seizure disorders, 16 …
Rare copy-number variants as modulators of common disease susceptibility.
Auwerx C, Jõeloo M, Sadler MC, Tesio N, Ojavee S, Clark CJ, Mägi R; Estonian Biobank Research Team; Reymond A, Kutalik Z. Auwerx C, et al. Genome Med. 2024 Jan 8;16(1):5. doi: 10.1186/s13073-023-01265-5. Genome Med. 2024. PMID: 38185688 Free PMC article.
Dissection of association signals provided insights into the epidemiology of known gene-disease pairs (e.g., deletions in BRCA1 and LDLR increased risk for ovarian cancer and ischemic heart disease, respectively), clarified dosage mechanisms of action (e.g., both in …
Dissection of association signals provided insights into the epidemiology of known gene-disease pairs (e.g., deletions in BRCA …
'Distal 16p12.2 microdeletion' in a patient with autosomal recessive deafness-22.
Tassano E, Ronchetto P, Calcagno A, Fiorio P, Gimelli G, Capra V, Scala M. Tassano E, et al. J Genet. 2019 Jun;98(2):56. J Genet. 2019. PMID: 31204719 Free article.
The '16p12.2 microdeletion' is a recurrent deletion comprised between BP2 and BP3, associated with variable clinical findings. We identified a heterozygous 16p12.2 microdeletion spanning between BP1 and BP2 in a child evaluated for short stature …
The '16p12.2 microdeletion' is a recurrent deletion comprised between BP2 and BP3, associated with variable clinical fi …
Clinical utility gene card for: 16p12.2 microdeletion.
Pizzo L, Andrieux J, Amor DJ, Girirajan S. Pizzo L, et al. Eur J Hum Genet. 2017 Feb;25(2). doi: 10.1038/ejhg.2016.158. Epub 2016 Nov 16. Eur J Hum Genet. 2017. PMID: 27848943 Free PMC article. No abstract available.
Bifid cardiac apex and spongiform cardiomyopathy in fetus with small microdeletion 16p12.2 of paternal origin. Critical points in family communication on 16p12.2 microdeletion.
Stabile M, Rispoli AF, Capuozzo M, Ferbo U, Stabile G. Stabile M, et al. Clin Case Rep. 2023 Jul 2;11(7):e7602. doi: 10.1002/ccr3.7602. eCollection 2023 Jul. Clin Case Rep. 2023. PMID: 37405046 Free PMC article.
KEY CLINICAL MESSAGE: From a literature review, this is the first case of fetal 16p12.2 microdeletion syndrome inherited from a normal father with autopsy description and evidence of spongious cardiomyopathy. First trimester intake of doxycycline could be a cofactor …
KEY CLINICAL MESSAGE: From a literature review, this is the first case of fetal 16p12.2 microdeletion syndrome inherited from …
Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome.
Bassett AS, Lowther C, Merico D, Costain G, Chow EWC, van Amelsvoort T, McDonald-McGinn D, Gur RE, Swillen A, Van den Bree M, Murphy K, Gothelf D, Bearden CE, Eliez S, Kates W, Philip N, Sashi V, Campbell L, Vorstman J, Cubells J, Repetto GM, Simon T, Boot E, Heung T, Evers R, Vingerhoets C, van Duin E, Zackai E, Vergaelen E, Devriendt K, Vermeesch JR, Owen M, Murphy C, Michaelovosky E, Kushan L, Schneider M, Fremont W, Busa T, Hooper S, McCabe K, Duijff S, Isaev K, Pellecchia G, Wei J, Gazzellone MJ, Scherer SW, Emanuel BS, Guo T, Morrow BE, Marshall CR; International 22q11.2DS Brain and Behavior Consortium. Bassett AS, et al. Am J Psychiatry. 2017 Nov 1;174(11):1054-1063. doi: 10.1176/appi.ajp.2017.16121417. Epub 2017 Jul 28. Am J Psychiatry. 2017. PMID: 28750581 Free PMC article.
For rare exonic duplications, six of 19 gene sets tested were enriched in the schizophrenia group; genes associated with abnormal nervous system phenotypes remained significant in a stepwise logistic regression model and showed significant interactions with 22q11.2 dele …
For rare exonic duplications, six of 19 gene sets tested were enriched in the schizophrenia group; genes associated with abnormal ner …
Refining the Phenotype of Recurrent Rearrangements of Chromosome 16.
Redaelli S, Maitz S, Crosti F, Sala E, Villa N, Spaccini L, Selicorni A, Rigoldi M, Conconi D, Dalprà L, Roversi G, Bentivegna A. Redaelli S, et al. Int J Mol Sci. 2019 Mar 4;20(5):1095. doi: 10.3390/ijms20051095. Int J Mol Sci. 2019. PMID: 30836598 Free PMC article.
Chromosome 16 is one of the most gene-rich chromosomes of our genome, and 10% of its sequence consists of segmental duplications, which give instability and predisposition to rearrangement by the recurrent mechanism of non-allelic homologous recombination. ...We ide …
Chromosome 16 is one of the most gene-rich chromosomes of our genome, and 10% of its sequence consists of segmental duplicatio …
19 results