Partial monosomy 7q34-qter and 21pter-q22.13 due to cryptic unbalanced translocation t(7;21) but not monosomy of the whole chromosome 21: a case report plus review of the literature.

Partial monosomy 7q34-qter and 21pter-q22.13 due to cryptic unbalanced translocation t(7;21) but not monosomy of the whole chromosome 21: a case report plus review of the literature. Research Abstract Details 

Research Abstract Table of Contents

Jump to the:

Partial monosomy 7q34-qter and 21pter-q22.13 due to cryptic unbalanced translocation t(7;21) but not monosomy of the whole chromosome 21: a case report plus review of the literature. Abstract Text:

ABSTRACT: BACKGROUND: Autosomal monosomies in human are generally suggested to be incompatible with life; however, there is quite a number of cytogenetic reports describing full monosomy of one chromosome 21 in live born children. Here, we report a cytogenetically similar case associated with congenital malformation including mental retardation, motor development delay, craniofacial dysmorphism and skeletal abnormalities. RESULTS: Initially, a full monosomy of chromosome 21 was suspected as only 45 chromosomes were present. However, molecular cytogenetics revealed a de novo unbalanced translocation with a der(7)t(7;21). It turned out that the translocated part of chromosome 21 produced GTG-banding patterns similar to original ones of chromosome 7. The final karyotype was described as 45,XX,der(7)t(7;21)(q34;q22.13),-21. As a meta analysis revealed that clusters of the olfactory receptor gene family (ORF) are located in these breakpoint regions, an involvement of OFR in the rearrangement formation is discussed here. CONCLUSION: The described clinical phenotype is comparable to previously described cases with ring chromosome 21, and a number of cases with del(7)(q34). Thus, at least a certain percentage, if not all full monosomy of chromosome 21 in live-borns are cases of unbalanced translocations involving chromosome 21.

Partial monosomy 7q34-qter and 21pter-q22.13 due to cryptic unbalanced translocation t(7;21) but not monosomy of the whole chromosome 21: a case report plus review of the literature. Publishing Authors By Initials

For similar abstracts research abstracts see: abstracts research

PUBMED ID PMID:

MEDLINE DATE:

Partial monosomy 7q34-qter and 21pter-q22.13 due to cryptic unbalanced translocation t(7;21) but not monosomy of the whole chromosome 21: a case report plus review of the literature. Journal Published:

PUBLICATION TYPE: Journal Article

Journal: Molecular Cytogenetics

VOLUME: 1

Page Numbers: 13

Journal Abbreviation:

ISSN: 1755-8166

DAY: 19

MONTH: 06

YEAR: 2008

Partial monosomy 7q34-qter and 21pter-q22.13 due to cryptic unbalanced translocation t(7;21) but not monosomy of the whole chromosome 21: a case report plus review of the literature. Information

Number of References:

LANGUAGE: eng

NlmUniqueID: 101317942

Partial monosomy 7q34-qter and 21pter-q22.13 due to cryptic unbalanced translocation t(7;21) but not monosomy of the whole chromosome 21: a case report plus review of the literature. Keywords Mesh Terms:

KEYWORDS:

MESH TERMS:

Chemical & Substance for Abstract: Partial monosomy 7q34-qter and 21pter-q22.13 due to cryptic unbalanced translocation t(7;21) but not monosomy of the whole chromosome 21: a case report plus review of the literature. Information

Substance Name:

Registry Number:

Grant and Affiliation Information for Partial monosomy 7q34-qter and 21pter-q22.13 due to cryptic unbalanced translocation t(7;21) but not monosomy of the whole chromosome 21: a case report plus review of the literature.

AFFILIATION: Institute of Human Genetics and Anthropology, Friedrich Schiller University, Jena, Germany. i8lith@mti.uni-jena.de.

Country: United States

AGENCY:

GRANT:

ACRONYM:

MEDLINETA: Mol Cytogenet

REFSOURCE:

DATABASENAME:

ACCESSION NUMBER:

Number Hits: 0

Partial monosomy 7q34-qter and 21pter-q2213 due to cryptic unbalanced translocation t7;21 but not monosomy of the whole chromosome 21: a case report plus review of the literature Related Publications

• An exceptional complex chromosomal rearrangement (CCR) with eight breakpoints involving four chromosomes (1;3;9;14) in an azoospermic male with normal phenotype.
• Characterization of prenatally assessed de novo small supernumerary marker chromosomes by molecular cytogenetics.
• Complex rearranged small supernumerary marker chromosomes (sSMC), three new cases; evidence for an underestimated entity?
• Distal partial trisomy 1q: report of two cases and a review of the literature.
• First patient with trisomy 21 accompanied by an additional der(4)(:p11 --> q11:) plus partial uniparental disomy 4p15-16.
• Fluorescence in situ hybridization for prenatal screening of chromosomal aneuploidies.
• Novel complex t(V;9;22) rearrangements in three cases with chronic myeloid leukemia and a rare translocation in a case with classical Philadelphia chromosome.
• Parental-origin-determination fluorescence in situ hybridization distinguishes homologous human chromosomes on a single-cell level.
• Partial monosomy 7q34-qter and 21pter-q22.13 due to cryptic unbalanced translocation t(7;21) but not monosomy of the whole chromosome 21: a case report plus review of the literature.
• Position of chromosomes 18, 19, 21 and 22 in 3D-preserved interphase nuclei of human and gorilla and white hand gibbon.
• Rapid Prenatal Aneuploidy Screening by Fluorescence In Situ Hybridization (FISH).
• Re-oxygenation of haemoglobin in livores after post-mortem exposure to a cold environment.
• Tetrasomy 12pter-12p13.31 in a girl with partial Pallister-Killian syndrome phenotype.
• The schizophrenia brain exhibits low-level aneuploidy involving chromosome 1.
• Theory-guided translation: emphasizing human connection.
• Thirty-two new cases with small supernumerary marker chromosomes detected in connection with fertility problems: Detailed molecular cytogenetic characterization and review of the literature.
• [Assessment of epidemiologic situation in tuberculosis among young men in the Federal Republic of Germany]
• [Classification of liver diseases. What is currently practiced and what is necessary for clinical, biochemical, biopsy and functional diagnosis]