Down Syndrome with Pure Partial Trisomy 21q22 Due to a Paternal Insertion (4;21) Uncovered by Uncultured Amniotic Fluid Interphase FISH

Overview

Journal Am J Med Genet A

Specialty Genetics

Date 2004 Dec 4

PMID 15578618

Citations 5

Authors

J Lee

J R Stanley

S A Vaz

J J Mulvihill

P Wilson

D Hopcus-Niccum

Shibo Li

Affiliations

Soon will be listed here.

Abstract

Objective: To emphasize the usefulness and reliability of fluorescence in situ hybridization (FISH) on uncultured amniotic fluid cells in the prenatal diagnosis of common chromosomal aneuploidies.

Methods: FISH analyses utilizing centromeric, locus-specific or whole chromosome paint DNA probes specific for chromosomes X, Y, 13, 18, 21, and 4 were performed on uncultured amniotic fluid cells or the peripheral blood specimen from the father. Routine chromosome analysis was carried out as well.

Results: A prenatal case with partial trisomy 21 due to a paternal cryptic insertion (4;21) was ascertained by a rapid overnight FISH on uncultured amniotic fluid cells. The fetus was delivered at term and had classical features of Down syndrome.

Conclusion: Our results stress the importance of FISH on uncultured amniotic fluid cells to supplement routine cytogenetics, especially in cases with abnormal ultrasound findings.

Citing Articles

Molecular cytogenetic characterization of partial trisomy of the long arm of chromosome 11 in a patient with multiple congenital anomalies.

Walker A, Wang X, Kim Y, Lu X, Taylor A, DeMarzo D Mol Cytogenet. 2022; 15(1):17.

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A prenatal case of partial trisomy 21 (q22.2q22.3), resulting from a paternal insertion translocation ins(16;21) and uncovered by QF-PCR, and characterized by array CGH and FISH.

Bhola S, Nieuwint A, Stuurman K Clin Case Rep. 2018; 6(7):1313-1316.

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A rare de novo duplication of chromosome 21q22.12 → q22.3 with other concomitant deletion and duplication of small fragments in 21q associated with Down syndrome: Prenatal diagnosis, molecular cytogenetic characterization.

Qi Q, Zhou X, Jiang Y, Hao N, Zhou J, Zhang L Mol Cytogenet. 2013; 6(1):11.

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Diagnosis of Sex Chromosome Disorders and Prenatal Diagnosis of Down Syndrome using Interphase Fluorescent In-Situ Hyperidization Technique.

Settin A, Abu-Saif I, El-Baz R, Dowaidar M, Kasim R, Shabana S Int J Health Sci (Qassim). 2011; 1(2):203-9.

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Cytogenetic findings at Down syndrome and their correlation with clinical findings.

Catovic A, Kendic S Bosn J Basic Med Sci. 2005; 5(4):61-7.

PMID: 16351601 PMC: 7202175. DOI: 10.17305/bjbms.2005.3236.