Article: Complete uniparental disomy of chromosome 1 in a child with isolated developmental delay

Complete uniparental disomy of chromosome 1 (UPD1) is an uncommon genetic finding about which a specific phenotype has not yet been established. We present a boy who has complete paternal UPD1 and isolated developmental delay and suggest that there is no clear phenotype of UPD1.

Citing Articles

Complete uniparental disomy of chromosome 1 in a child with isolated developmental delay.

Wallerstein V, Grant L, Wallerstein R Clin Case Rep. 2022; 10(7):e5956.

PMID: 35898748 PMC: 9307878. DOI: 10.1002/ccr3.5956.

References

1.

Chen H, Young R, Mu X, Nandi K, Miao S, PROUTY L . Uniparental isodisomy resulting from 46,XX,i(1p),i(1q) in a woman with short stature, ptosis, micro/retrognathia, myopathy, deafness, and sterility. Am J Med Genet. 1999; 82(3):215-8. DOI: 10.1002/(sici)1096-8628(19990129)82:3<215::aid-ajmg4>3.0.co;2-z. View

2.

Del Gaudio D, Shinawi M, Astbury C, Tayeh M, Deak K, Raca G . Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2020; 22(7):1133-1141. DOI: 10.1038/s41436-020-0782-9. View

3.

Papenhausen P, Schwartz S, Risheg H, Keitges E, Gadi I, Burnside R . UPD detection using homozygosity profiling with a SNP genotyping microarray. Am J Med Genet A. 2011; 155A(4):757-68. DOI: 10.1002/ajmg.a.33939. View

4.

Field L, Tobias R, Robinson W, Paisey R, Bain S . Maternal uniparental disomy of chromosome 1 with no apparent phenotypic effects. Am J Hum Genet. 1998; 63(4):1216-20. PMC: 1377482. DOI: 10.1086/302050. View

5.

Shimojima K, Tanaka R, Shimada S, Sangu N, Nakayama J, Iwasaki N . A novel homozygous mutation of GJC2 derived from maternal uniparental disomy in a female patient with Pelizaeus-Merzbacher-like disease. J Neurol Sci. 2013; 330(1-2):123-6. DOI: 10.1016/j.jns.2013.04.017. View

6.

Ponzi E, Alesi V, Lepri F, Genovese S, Loddo S, Mucciolo M . Uniparental isodisomy of chromosome 1 results in glycogen storage disease type III with profound growth retardation. Mol Genet Genomic Med. 2019; 7(5):e634. PMC: 6503021. DOI: 10.1002/mgg3.634. View

7.

Wassink T, Losh M, Frantz R, Vieland V, Goedken R, Piven J . A case of autism and uniparental disomy of chromosome 1. Hum Genet. 2005; 117(2-3):200-6. DOI: 10.1007/s00439-005-1257-4. View

8.

Kotzot D . Prenatal testing for uniparental disomy: indications and clinical relevance. Ultrasound Obstet Gynecol. 2007; 31(1):100-5. DOI: 10.1002/uog.5133. View

9.

Xiao B, Wang L, Liu H, Fan Y, Xu Y, Sun Y . Uniparental isodisomy caused autosomal recessive diseases: NGS-based analysis allows the concurrent detection of homogenous variants and copy-neutral loss of heterozygosity. Mol Genet Genomic Med. 2019; 7(10):e00945. PMC: 6785455. DOI: 10.1002/mgg3.945. View

10.

King J, Dexter A, Gadi I, Zvereff V, Martin M, Bloom M . Maternal uniparental isodisomy causing autosomal recessive GM1 gangliosidosis: a clinical report. J Genet Couns. 2014; 23(5):734-41. DOI: 10.1007/s10897-014-9720-9. View

11.

Wallerstein V, Grant L, Wallerstein R . Complete uniparental disomy of chromosome 1 in a child with isolated developmental delay. Clin Case Rep. 2022; 10(7):e5956. PMC: 9307878. DOI: 10.1002/ccr3.5956. View

Complete Uniparental Disomy of Chromosome 1 in a Child with Isolated Developmental Delay