Presentation
The present case is the 6th to be reported with partial trisomy of the long arm of chromosome 3. Full text Full text is available as a scanned copy of the original print version. [ncbi.nlm.nih.gov]
Genital defects may sometimes be present, such as undescended testes (cryptorchidism) in affected males and malformations of the internal genitals in females with the disorder. [rarediseases.org]
Entire Body System
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Fishing
Biomedical Sciences, University of Ferrara, Corso Giovecca 203, Ferrara, Italy (Note : for Links provided by Atlas : click ) ICD-Topo C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS Atlas_Id 2008 3 (right) and partial trisomy 3 due to i(3)(q10) (left) FISH [atlasgeneticsoncology.org]
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Surgical Procedure
The surgical procedures performed will depend upon the severity of the anatomical abnormalities, their associated symptoms, and other factors. Other treatment is symptomatic and supportive. [rarediseases.org]
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Hodgkin Lymphoma
PMID 10374886 Trisomy 3q11-q29 is recurrently observed in B-cell non-Hodgkin's lymphomas associated with cold agglutinin syndrome. [atlasgeneticsoncology.org]
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Lymphadenopathy
[…] occurs more frequently in T-cell lymphomas than in B-cell lymphomas globally, 20-30% of T-NHL may carry trisomy 3, the highest incidence having been noted in lymphoepithelioid lymphoma, in low-grade peripheral T-cell lymphoma, in angioimmonoblastic lymphadenopathy [atlasgeneticsoncology.org]
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Developmental Delay
However, many affected infants and children have developmental delays, mental retardation, and characteristic abnormalities of the head and facial (craniofacial) area, resulting in a distinctive facial appearance. [rarediseases.org]
Eyes
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Corneal Opacity
opacities), or rapid, involuntary eye movements (nystagmus). [rarediseases.org]
Skin
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Hirsutism
There is hirsutism and characteristic facial dysmorphism, the common features of which are a square-shaped face, prominent nasal bridge, everted nostrils, hypertelorism, and palate abnormalities; occurring less often are abnormalities of vertebrae, thorax [ncbi.nlm.nih.gov]
[…] and children also tend to have long eyelashes; arched, bushy, well-defined eyebrows that grow together across the base of the nose (synophrys), an unusually low hairline on the forehead and the back of the neck; and generalized excessive hair growth (hirsutism [rarediseases.org]
Face, Head & Neck
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Hypertelorism
There is hirsutism and characteristic facial dysmorphism, the common features of which are a square-shaped face, prominent nasal bridge, everted nostrils, hypertelorism, and palate abnormalities; occurring less often are abnormalities of vertebrae, thorax [ncbi.nlm.nih.gov]
Such craniofacial abnormalities may include a relatively short head (brachycephaly), widely spaced eyes (ocular hypertelorism), upwardly slanting eyelid folds (palpebral fissures), and a small nose with upturned nostrils (anteverted nares). [rarediseases.org]
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Short Neck
Affected infants and children may also have a low hairline on the forehead and the back of the neck, an abnormally short neck with excessive skin folds, unusually long eyelashes; arched, bushy, well-defined eyebrows that grow together across the base [rarediseases.org]
Psychiatrical
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Fear
Fear C, et al. Familial partial trisomy of the long arm of chromosome 3 (3q). Arch Dis Child. 1979;54:135-138. Yunis E, et al. Partial trisomy 3q. Hum Genet. 1979;48:315-320. Kondo I, et al. A case of trisomy 3q21 leads to qter syndrome. [rarediseases.org]
Neurologic
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Nystagmus
[…] ocular) abnormalities, such as increased fluid pressure within the eyes (glaucoma); loss of transparency of the lenses (cataracts), clouding of the front, usually transparent regions of the eyes (corneal opacities), or rapid, involuntary eye movements (nystagmus [rarediseases.org]
Treatment
Standard Therapies Treatment The treatment of Chromosome 3, Trisomy 3q2 is directed toward the specific symptoms and physical findings that are apparent in each individual. [rarediseases.org]
Prognosis
[…] lymphoma, in the nodal and the splenic form of MZL; trisomy 3/3q was reported in 10-15% of MCL with an higher incidence (up to 40%) by molecular cytogenetic techniques; sporadically, other low-grade and high grade B-lymphoid tumors may carry trisomy 3/3q Prognosis [atlasgeneticsoncology.org]