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  2. Tetrasomy 9p - Symptoms, Causes, Treatment | NORD

    rarediseases.org/rare-diseases/chromosome-9-tetrasomy-9p

    Tetrasomy 9p is a very rare chromosomal disorder in which the short arm of chromosome 9 (9p) appears four times (tetrasomy) rather than twice in some or all the cells of the body. When only some cells are affected, this is termed “mosaicism.”

  3. Tetrasomy 9p | About the Disease | GARD - Genetic and Rare...

    rarediseases.info.nih.gov/diseases/42/tetrasomy-9p

    Tetrasomy 9p is a rare autosomal anomaly characterized by pre- and postnatal growth retardation, psychomotor delay, mild to moderate intellectual disability, hypotonia, microcephaly, dysmorphic features (ocular hypertelorism, low-set, malformed ears, bulbous/beaked nose, microretrognathia, enophthalmos/micropthalmia, epicanthus, strabismus ...

  4. Tetrasomy 9p - Wikipedia

    en.wikipedia.org/wiki/Tetrasomy_9p

    Tetrasomy 9p (also known tetrasomy 9p syndrome) is a rare chromosomal disorder characterized by the presence of two extra copies of the short arm of chromosome 9 (called the p arm), in addition to the usual two. [1]

  5. A Systematic Clinical Review of Prenatally Diagnosed Tetrasomy 9p

    www.ncbi.nlm.nih.gov/pmc/articles/PMC6714344

    Tetrasomy 9p is a rare chromosomal abnormality characterized by the presence of four copies of the short ρ arm of chromosome 9. Occasionally, a minute portion of the long q arm is duplicated as well.

  6. tetrasomy 9p - National Organization for Rare Disorders

    rarediseases.org/mondo-disease/tetrasomy-9p

    Tetrasomy 9p is a rare autosomal anomaly characterized by pre- and postnatal growth retardation, psychomotor delay, mild to moderate intellectual disability, hypotonia, microcephaly, dysmorphic features (ocular hypertelorism, low-set, malformed ears, bulbous/beaked nose, microretrognathia, enophthalmos/micropthalmia, epicanthus, strabismus ...

  7. Tetrasomy 9p - Unique

    rarechromo.org/media/information/Chromosome 9/Tetrasomy 9p FTNW.pdf

    Tetrasomy 9p is a rare condition that was first described in 1973 (Ghymers 1973). People with this syndrome usually have a small extra chromosome made up of two copies of part of chromosome 9.

  8. A high level of tetrasomy 9p mosaicism but no clinical...

    www.ncbi.nlm.nih.gov/pmc/articles/PMC7125280

    Tetrasomy 9p (ORPHA: 3310) (i (9p)) is a rare chromosomal imbalance. It is characterized by the presence of a supernumerary chromosome incorporating two copies of the short arm of chromosome 9 and is usually present in a mosaic state postnatally.

  9. Tetrasomy 9p - MalaCards

    www.malacards.org/card/tetrasomy_9p

    Tetrasomy 9p (also known tetrasomy 9p syndrome) is a rare chromosomal disorder characterized by the presence of two extra copies of the short arm of chromosome 9 (called the p arm), in addition to the usual two.

  10. Tetrasomy 9p - Orphanet

    www.orpha.net/en/disease/detail/3310

    Tetrasomy 9p is a rare autosomal anomaly characterized by pre- and postnatal growth retardation, psychomotor delay, mild to moderate intellectual disability, hypotonia, microcephaly, dysmorphic features (ocular hypertelorism, low-set, malformed ears, bulbous/beaked nose, microretrognathia, enophthalmos/micropthalmia, epicanthus, strabismus ...

  11. Tetrasomy 9p leads to a variable phenotype ranging from multiple congenital anomalies with severe intellectual disability and growth delay to subnormal cognitive and physical developments. Hypertelorism, abnormal ears, microretrognathia and bulbous nose are the most common dysmorphic traits.

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