FRA16B
MCID: FRG013
MIFTS: 18

Fragile Site, Distamycin a Type, Rare, Fra(16)(q22.1) (FRA16B)

Categories: Rare diseases

Aliases & Classifications for Fragile Site, Distamycin a Type, Rare, Fra(16)(q22.1)

MalaCards integrated aliases for Fragile Site, Distamycin a Type, Rare, Fra(16)(q22.1):

Name: Fragile Site, Distamycin a Type, Rare, Fra(16)(q22.1) 57
Fragile Site 16q22 57
Fra16b 57

Classifications:



External Ids:

OMIM® 57 136580
MedGen 41 C3890175
SNOMED-CT via HPO 68 15296000 17369002 8619003

Summaries for Fragile Site, Distamycin a Type, Rare, Fra(16)(q22.1)

OMIM® : 57 FRA16B is an amplified 33-basepair AT-rich minisatellite repeat. These variable, extremely large repeat expansions of 15 to 70 kb apparently do not interfere with the expression of genes essential for human development since individuals heterozygous or homozygous for FRA16B are normal. Normal chromosomes contain 7 to 12 copies of the repeat (Yu et al., 1997; summary by Felbor et al., 2003). (136580) (Updated 05-Apr-2021)

MalaCards based summary : Fragile Site, Distamycin a Type, Rare, Fra(16)(q22.1), also known as fragile site 16q22, is related to fragile site 10q25 and rapidly involuting congenital hemangioma. An important gene associated with Fragile Site, Distamycin a Type, Rare, Fra(16)(q22.1) is FRA16B (Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)). Affiliated tissues include bone marrow and bone, and related phenotypes are infertility and abnormality of chromosome segregation

Related Diseases for Fragile Site, Distamycin a Type, Rare, Fra(16)(q22.1)

Diseases related to Fragile Site, Distamycin a Type, Rare, Fra(16)(q22.1) via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 fragile site 10q25 10.1
2 rapidly involuting congenital hemangioma 10.1
3 cleft palate, isolated 9.9
4 jacobsen syndrome 9.9
5 fragile site 11b 9.9
6 tooth agenesis 9.9
7 chronic myelomonocytic leukemia 9.9

Graphical network of the top 20 diseases related to Fragile Site, Distamycin a Type, Rare, Fra(16)(q22.1):



Diseases related to Fragile Site, Distamycin a Type, Rare, Fra(16)(q22.1)

Symptoms & Phenotypes for Fragile Site, Distamycin a Type, Rare, Fra(16)(q22.1)

Human phenotypes related to Fragile Site, Distamycin a Type, Rare, Fra(16)(q22.1):

31
# Description HPO Frequency HPO Source Accession
1 infertility 31 HP:0000789
2 abnormality of chromosome segregation 31 HP:0002916
3 spontaneous abortion 31 HP:0005268
4 abnormality of the lymph nodes 31 HP:0002733

Clinical features from OMIM®:

136580 (Updated 05-Apr-2021)

Drugs & Therapeutics for Fragile Site, Distamycin a Type, Rare, Fra(16)(q22.1)

Search Clinical Trials , NIH Clinical Center for Fragile Site, Distamycin a Type, Rare, Fra(16)(q22.1)

Genetic Tests for Fragile Site, Distamycin a Type, Rare, Fra(16)(q22.1)

Anatomical Context for Fragile Site, Distamycin a Type, Rare, Fra(16)(q22.1)

MalaCards organs/tissues related to Fragile Site, Distamycin a Type, Rare, Fra(16)(q22.1):

40
Bone Marrow, Bone

Publications for Fragile Site, Distamycin a Type, Rare, Fra(16)(q22.1)

Articles related to Fragile Site, Distamycin a Type, Rare, Fra(16)(q22.1):

(show top 50) (show all 51)
# Title Authors PMID Year
1
The rare human fragile site 16B. 61 57
14526167 2003
2
Human chromosomal fragile site FRA16B is an amplified AT-rich minisatellite repeat. 57 61
9039263 1997
3
A PCR-based genetic linkage map of human chromosome 16. 57
7959793 1994
4
Implications of FRA16A structure for the mechanism of chromosomal fragile site genesis. 57
8009225 1994
5
The use of distamycin A in human lymphocyte cultures. 57
6693124 1984
6
Heritable fragile sites on human chromosomes. XI. Factors affecting expression of fragile sites at 10q25, 16q22, and 17p12. 57
6198907 1984
7
Enhancement of a fra(16)(q22) with distamycin A: a family ascertained through an abnormal proposita. 57
6359880 1983
8
BrdU-sensitive fragile site on long arm of chromosome 16. 57
6859046 1983
9
Fragile chromosome 16(q22) cause a balanced translocation at the same point. 57
6654336 1983
10
A new familial "fragile site" on chromosome 16 (q23-24). Cytogenetic and clinical considerations. 57
6604013 1983
11
Epstein-Barr-virus-induced lymphoproliferative disorder converting to fatal Burkitt-like lymphoma in a boy with interferon-inducible chromosomal defect. 57
6159514 1980
12
The fragile site on the long arm of chromosome 16. 57
6971605 1980
13
Demonstration of a heritable fragile site in human chromosome 16 with distamycin A. 57
7449440 1980
14
The fragile site on chromosome 16 (q21q22). Data on four new families. 57
7450752 1980
15
The importance of being a fragile site. 57
453205 1979
16
Heritable fragile sites on human chromosomes I. Factors affecting expression in lymphocyte culture. 57
36752 1979
17
Heritable fragile site on chromosome 16: probable localization of haptoglobin locus in man. 57
5452897 1970
18
Persisting clone of cells with an abnormal chromosome in a woman previously irradiated. 57
5837920 1965
19
Enhanced Expression of FRA16B using AT-Rich DNA Binding Chemicals in a Woman with Secondary Amenorrhoea. 61
28764253 2017
20
Chromosome 16 abnormalities in embryos and in sperm from a male with a fragile site at 16q22.1. 61
24434955 2014
21
Spontaneous expression of FRA16B in a non-consanguineous couple experiencing multiple fetal losses. 61
22564372 2012
22
A distinct first replication cycle of DNA introduced in mammalian cells. 61
21062817 2011
23
DNA instability at chromosomal fragile sites in cancer. 61
21286310 2010
24
Secondary structure formation and DNA instability at fragile site FRA16B. 61
20071743 2010
25
Human chromosome fragility. 61
18078840 2008
26
AT islands - their nature and potential for anticancer strategies. 61
15032671 2004
27
Matrix attachment region (MAR) properties and abnormal expansion of AT island minisatellites in FRA16B fragile sites in leukemic CEM cells. 61
14576323 2003
28
Molecular basis for expression of common and rare fragile sites. 61
14517285 2003
29
Dominant inheritance of cleft palate, microstomia and micrognathia--possible linkage to the fragile site at 16q22 (FRA16B). 61
12401987 2002
30
Human fragile site FRA16B DNA excludes nucleosomes in the presence of distamycin. 61
11880377 2002
31
Common chromosomal fragile site FRA16D sequence: identification of the FOR gene spanning FRA16D and homozygous deletions and translocation breakpoints in cancer cells. 61
10861292 2000
32
A novel minisatellite repeat expansion identified at FRA16B in a Japanese carrier. 61
10984839 2000
33
Analysis of replication timing at the FRA10B and FRA16B fragile site loci. 61
11196131 2000
34
Spectral karyotyping of Werner syndrome fibroblast cultures. 61
11173853 2000
35
[Medical pathology due to trinucleotide repeats]. 61
10204311 1999
36
Homozygotes for FRA16B are normal. 61
10598570 1999
37
Involvement of telomeric sequences in chromosomal aberrations. 61
9729384 1998
38
FRA10B structure reveals common elements in repeat expansion and chromosomal fragile site genesis. 61
9660961 1998
39
Expression of three rare fragile sites: chromosomal truncation, amplification of distal segment and telomeric renewal. 61
9362548 1997
40
Genetic heterogeneity in familial acute myelogenous leukemia: evidence for a second locus at chromosome 16q21-23.2. 61
9382098 1997
41
Human zinc finger gene ZNF23 (Kox16) maps to a zinc finger gene cluster on chromosome 16q22, and ZNF32 (Kox30) to chromosome region 10q23-q24. 61
8500793 1993
42
Addition of MT, D16S10, D16S4, and D16S91 to the linkage map within 16q12.1-q22.1. 61
1685482 1991
43
"Spontaneous" FRA16B is a hot spot for sister chromatid exchanges. 61
1916761 1991
44
A refined physical map of the long arm of human chromosome 16. 61
2071140 1991
45
Differential expression of FRA16B in peripheral lymphocytes and bone marrow cells. 61
2208058 1990
46
The human metallothionein gene cluster is not disrupted in myelomonocytic leukemia. 61
2303255 1990
47
A linkage group with FRA16B (the fragile site at 16q22.1). 61
2722188 1989
48
Do leukemia patients with chromosome 16 inversion--inv(16)(p13q22)--have a rare fragile site at 16q22? 61
3162187 1988
49
Fine mapping of gene probes and anonymous DNA fragments to the long arm of chromosome 16. 61
2900808 1988
50
Fragile sites at 16q22 are not at the breakpoint of the chromosomal rearrangement in AMMoL. 61
3470945 1987

Variations for Fragile Site, Distamycin a Type, Rare, Fra(16)(q22.1)

Expression for Fragile Site, Distamycin a Type, Rare, Fra(16)(q22.1)

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Pathways for Fragile Site, Distamycin a Type, Rare, Fra(16)(q22.1)

GO Terms for Fragile Site, Distamycin a Type, Rare, Fra(16)(q22.1)

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