Case Reports
doi: 10.1002/ajmg.1320440503.
Interstitial deletion of the short arm of chromosome 1 (46XY, del(1)(p13p22.3))
Affiliations
- PMID: 1481806
- DOI: 10.1002/ajmg.1320440503
Item in Clipboard
Case Reports
Interstitial deletion of the short arm of chromosome 1 (46XY, del(1)(p13p22.3))
Am J Med Genet.
.
Abstract
A male patient with a de novo proximal interstitial deletion of the short arm of chromosome 1 (46XY, del(1)(p13p22.3) is described with multiple anomalies and developmental delay. This patient's clinical manifestations are compared to previously reported patients with deletions of chromosome 1p.
Comment in
-
Interstitial deletion in chromosome 1: assignment of the breakpoints.Am J Med Genet. 1993 Nov 15;47(7):1144-5. doi: 10.1002/ajmg.1320470739. Am J Med Genet. 1993. PMID: 8291536 No abstract available.
Similar articles
-
A child with multiple congenital anomalies and karyotype 46,XY,del(14)(q31q32.3): further delineation of chromosome 14 interstitial deletion syndrome.Am J Med Genet. 1990 Dec;37(4):471-4. doi: 10.1002/ajmg.1320370409. Am J Med Genet. 1990. PMID: 2260590 Review.
-
Subtle overlapping deletions in the terminal region of chromosome 6q24.2-q26: three cases studied using FISH.Am J Med Genet. 1999 Nov 5;87(1):17-22. Am J Med Genet. 1999. PMID: 10528241 Review.
-
De novo interstitial deletion q16.2q21 on chromosome 6.Am J Med Genet. 1995 Jan 30;55(3):379-83. doi: 10.1002/ajmg.1320550326. Am J Med Genet. 1995. PMID: 7726240 Review.
-
A case of interstitial 1q deletion [46,XY,del(q25q32.1)].Ann Genet. 1987;30(2):105-8. Ann Genet. 1987. PMID: 3314663 Review.
-
Interstitial deletions of the short arm of chromosome 4 in patients with a similar combination of multiple minor anomalies and mental retardation.Am J Med Genet. 1995 Jul 17;57(4):588-97. doi: 10.1002/ajmg.1320570415. Am J Med Genet. 1995. PMID: 7573135
Cited by
-
A novel 1p13.2 deletion associates with neurodevelopmental disorders in a three-generation pedigree.BMC Med Genomics. 2023 May 23;16(1):114. doi: 10.1186/s12920-023-01534-7. BMC Med Genomics. 2023. PMID: 37221554 Free PMC article.
-
Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3).Hum Genet. 2009 Jun;125(5-6):581-90. doi: 10.1007/s00439-009-0653-6. Epub 2009 Mar 19. Hum Genet. 2009. PMID: 19296131
-
Molecular cytogenetic characterization of two independent karyotypic anomalies in a patient with severe mental retardation and juvenile idiopathic arthritis.Genomic Med. 2007;1(1-2):65-73. doi: 10.1007/s11568-007-9008-3. Epub 2007 Jul 11. Genomic Med. 2007. PMID: 18923930 Free PMC article.
-
A rigorous in silico genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders.Front Mol Neurosci. 2022 Oct 6;15:979061. doi: 10.3389/fnmol.2022.979061. eCollection 2022. Front Mol Neurosci. 2022. PMID: 36277487 Free PMC article.
-
Chromosome 1p31.1 Deletion: A Case With Developmental Delay, Hypotonia, Cryptorchidism, Abnormal Oral Frenulum, and Feet Deformity.Case Rep Genet. 2025 Jul 27;2025:6152118. doi: 10.1155/crig/6152118. eCollection 2025. Case Rep Genet. 2025. PMID: 40756776 Free PMC article.
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources