Presentation
In at least one of these families monosomy 7 was seen in multiple individuals at presentation. [ncbi.nlm.nih.gov]
[…] in 5 to 6 % of ALL, most often as a secondary anomaly of the t(9;22); the association t(9;22), -7 is present in 16 % of the Ph1 ALL, i.e. in 3% of ALL as a whole; we will hereunder focuse on -7/del(7q) in adult myeloproliferations del(7q) Figure 1: Partial [atlasgeneticsoncology.org]
Parentheses indicate the tables in which the results of the respective analyses are presented. Figure 2. [mdpi.com]
Entire Body System
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Lymphedema
Microcephaly Seizures Genital Hypoplasia Microcephaly Seizures Mental Retardation Heart Disorders Microcephaly Sparse Hair Mental Retardation Seizures Microcephaly with Mental Retardation and Digital Anomalies microcephaly with or without chorioretinopathy, lymphedema [rgd.mcw.edu]
Eyes
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Retinal Pigmentation
Pigment Abnormalities Rahman Syndrome Ramon Syndrome Ramos Arroyo Clark Syndrome Reardon Wilson Cavanagh Syndrome Recombinant Chromosome 8 Syndrome Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism Richards-Rundle Syndrome Rigidity [rgd.mcw.edu]
Neurologic
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High Pain Threshold
PAIN THRESHOLD INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES [rgd.mcw.edu]
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Spastic Quadriplegia
Quadriplegia, Retinitis Pigmentosa, and Mental Retardation Spinal Muscular Atrophy with Mental Retardation Spinal Muscular Atrophy with Microcephaly and Mental Subnormality Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type spondyloepimetaphyseal [rgd.mcw.edu]
Treatment
Disease myelodysplastic syndromes (MDS) and acute myeloid leukemia (AML); they may occur de novo, or be secondary to an exposure to chemical mutagens or to chemotherapy treatments with alkylating agents; may probably also be secondary to immunosuppressive [atlasgeneticsoncology.org]
[…] sensitizes tumor cells to radiation treatment [79,80]. [mdpi.com]
Since BMT is the only effective treatment for the management of hematologic disease and the familial status of the disorder may not be known, rigorous evaluation of related donors is strongly suggested. [ncbi.nlm.nih.gov]
Turner syndrome and clinical treatment. Brit Med B; 2008; 86:77- 93. [ Links ] 50. Berta P, Hawkins JR, Sinclair AH. Genetic evidence equating SRY and the testes-determinating factor. Nature; 1990; 348:448-450. [ Links ] 51. [scielo.org.mx]
Prognosis
Subtypes defined by Robertson et al. [42] are indicated in the upper bar above the heatmap as follows: good prognosis (orange), intermediate prognosis (red), bad prognosis group C (cyan) and bad prognosis D (blue) (Jager et al. [75]). Table 1. [mdpi.com]
[…] de novo myeloid disorders; the sex ratio is 1.5 male for 1 female; the proportion of adults with a -7 myeloid disorder grows dramatically after 60 years Clinics characterized by infectious susceptibility, quick aggravation, and treatment resistance Prognosis [atlasgeneticsoncology.org]
As with sporadic AML/MDS with monosomy 7, the prognosis is poor, particularly in individuals with a high percentage of monosomy 7 cells in the bone marrow. Nearly all individuals reported with familial monosomy 7 have died of their disease. [ncbi.nlm.nih.gov]
Etiology
The genetic etiology that underlies the disorder and leads to loss of chromosome 7 is unknown. The loss of chromosome 7 or segmental loss of 7q is thought to delete a tumor suppressor locus [Curtiss et al 2005, Asou et al 2009]. [ncbi.nlm.nih.gov]
Epidemiology
PMID 9520444 Childhood monosomy 7: epidemiology, biology, and mechanistic implications. Luna-Fineman S, Shannon KM, Lange BJ Blood. 1995 ; 85 (8) : 1985-1999. [atlasgeneticsoncology.org]
Uveal melanoma: Epidemiologic aspects. Ophthalmol. Clin. N. Am. 2005, 18, 75–84. [Google Scholar] [CrossRef] [PubMed] Kujala, E.; Makitie, T.; Kivela, T. Very long-term prognosis of patients with malignant uveal melanoma. Investig. Ophthalmol. Vis. [mdpi.com]
Prevention
Centromere-associated protein E is essential for the mammalian mitotic checkpoint to prevent aneuploidy due to single chromosome loss, J Cell Biol; 2003; 162(4):551-563. [ Links ] 42. [scielo.org.mx]
Prevention of secondary complications: It is unknown if the standard protocols for ablative therapy prior to BMT should be modified. [ncbi.nlm.nih.gov]