Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2021 Mar 9;9(4):2365-2368.
doi: 10.1002/ccr3.4036. eCollection 2021 Apr.

Familiar del3p syndrome: The uncertainty of the prognosis. A case report

Márcia Martins  1 , Regina Arantes  2   3 , Pedro Botelho  2 , Marta Souto  2 , Osvaldo Moutinho  4 , Rosário Pinto Leite  2   5
Affiliations
Case Reports

Familiar del3p syndrome: The uncertainty of the prognosis. A case report

Márcia Martins et al. Clin Case Rep. .

Abstract

The 3p deletion syndrome is an unusual condition. The few cases described are mainly de novo. We described a familial case detected in a prenatal diagnosis. Three members of the family had the 3p26.3-p26.1 deletion; however, only the son presented clinical features.

Keywords: 3p deletion; array‐comparative genomic hybridization; cytogenetic; fluorescence in situ hybridization.

PubMed Disclaimer

Conflict of interest statement

None to declare.

Figures

FIGURE 1
FIGURE 1
A, GTL‐banded fetal karyotype (del3p marked). B, Partial metaphase with subtelomeric probe for chromosome 3 (green: p arm; red: q arm). C, Whole‐genome array‐comparative genomic hybridization on blood shows a 7.4 Mb deletion at 3p26.3‐p26.1
See this image and copyright information in PMC

References

    1. Lee HJ, Kim JH, Cho JH, et al. Clinical characterization of a Korean case with 3p25 deletion. J Genet Med. 2014;11:36‐39.
    1. Pohjola P, de Leeuw N, Penttinen M, Kääriäinen H. Terminal 3p deletions in two families‐correlation between molecular karyotype and phenotype. Am J Med Genet A. 2010;152A(2):441‐446. - PubMed
    1. Verjaal M, De Nef MB. A patient with a partial deletion of the short arm of chromosome 3. Am J Dis Child. 1978;132(1):43‐45. - PubMed
    1. Yagasaki H, Toda T, Koizumi K, et al. A de novo 10.1‐Mb 3p25 terminal deletion including SETD5 in a patient with ptosis and psychomotor retardation. Pediatr Neonatol. 2018;59(3):319‐321. - PubMed
    1. Weehi LT, Maikoo R, Mc Cormack A,, et al. Microduplication of 3p26.3 implicated in cognitive development. Case Rep Genet. 2014;2014:295359. - PMC - PubMed

Publication types

LinkOut - more resources