In most cases, it occurs as part of an unbalanced translocation, which means that abnormalities of other chromosomes are also present. Estimated Number of People with this Disease This section is currently in development. [rarediseases.info.nih.gov]

Homepage Rare diseases Search Search for a rare disease Disease definition Mosaic trisomy 3 is a rare chromosomal anomaly syndrome with high phenotypic variability ranging from a mild phenotype presenting joint pain and laxity, mild facial dysmorphism [orpha.net]

Medicine Humangenetik 2004 The clinical diagnosis at birth of cat-eye syndrome was confirmed by chromosomal analysis of peripheral blood lymphocytes and skin fibroblasts: an additional nearly acrocentric chromosome smaller than a G group chromosome was present [semanticscholar.org]

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]

• Corneal Opacity

  opacities), or rapid, involuntary eye movements (nystagmus). [rarediseases.org]

• Visual Impairment

  Due to such features, affected individuals may have varying degrees of visual impairment. Trisomy 3q2 may also be characterized by abnormalities of the fingers or toes. [rarediseases.org]

• Hirsutism

  Features that may be present in a person with a Chromosome 3q duplication include distinctive facial features, hirsutism (excessive hair growth in women), small head size (microcephaly), intellectual disability, slowed growth, and abnormalities of the [rarediseases.info.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]

• Hypertrichosis

  Medicine American journal of medical genetics 1981 A review of published cases shows a clinical syndrome characterized by statomotoric retardation, shortened life span, and a multiple congenital anomalies (MCA) syndrome of abnormal head configuration, hypertrichosis [semanticscholar.org]

• Hypertelorism

  […] journal of medical genetics 1981 A review of published cases shows a clinical syndrome characterized by statomotoric retardation, shortened life span, and a multiple congenital anomalies (MCA) syndrome of abnormal head configuration, hypertrichosis, hypertelorism [semanticscholar.org]

  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]

• Pierre Robin Syndrome

  Phosphoglycerate Kinase Deficiency Pick's Disease Pierre Robin Syndrome Pinta Pityriasis Rubra Pilaris Pneumonia, Eosinophilic Pneumonia, Interstitial POEMS Syndrome Poland Syndrome Polyarteritis Nodosa Polychondritis Polycystic Kidney Diseases Polycystic [medschool.umaryland.edu]

• Suggestibility

  Diagnosis In some cases, a diagnosis of Chromosome 3, Trisomy 3q2 may be suggested before birth (prenatally) by specialized tests such as ultrasound, amniocentesis, or chorionic villus sampling (CVS). [rarediseases.org]

• Cryptorchidism

  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]

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]

Congenital malformations: Etiologic factors and their role in prevention. N Eng J Med 1983; 308: 424–31. [PubMed] [Google Scholar] 134. Polani PE. Delineation of malformation syndromes In: Littlefield JW, de Grouchy J, Eds. Birth defects. [ncbi.nlm.nih.gov]

Congenital malformations: Etiologic factors and their role in prevention. N Eng J Med 1983; 308: 424–31. [PubMed] [Google Scholar] 134. Polani PE. Delineation of malformation syndromes In: Littlefield JW, de Grouchy J, Eds. Birth defects. [ncbi.nlm.nih.gov]