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Trisomy 3p

Duplication 3p


Presentation

  • Other stigmata, such as a prominent, high forehead with frontal bossing and full cheeks, were present during childhood but progressively disappeared.[ncbi.nlm.nih.gov]
  • Chromosome 3p duplication can be de novo or inherited from a parent with a balanced translocation. [1] [2] Treatment is based on the signs and symptoms present in each person.[rarediseases.info.nih.gov]
Developmental Delay
  • Features that often occur in people with chromosome 3p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features.[rarediseases.info.nih.gov]
Disability
  • Features that often occur in people with chromosome 3p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features.[rarediseases.info.nih.gov]
Fishing
  • FISH - a laboratory technique that is used to detect and locate a specific DNA sequence on a chromosome. During FISH, a chromosome is exposed to a small DNA sequence called a probe that has a fluorescent molecule attached to it.[rarediseases.info.nih.gov]
Short Stature
  • Last updated: 5/18/2015 The signs and symptoms of chromosome 3p duplication vary but may include: [1] [2] Developmental delay Intellectual disability Hypotonia (poor muscle tone) Cleft lip and palate Behavioral problems Short stature Microcephaly (unusually[rarediseases.info.nih.gov]
Short Finger
  • Clinical features in these cases have included the following: lowset ears, mongoloid slant of eyes, hypertelorism, cleft palate, webbed neck, simian creases, short fingers, clinodactyly, hypotonia, and low-set hairline.[jamanetwork.com]
Corneal Opacity
Short Arm
  • Overview Chromosome 3, trisomy 3p is a rare chromosomal disorder where a portion of the short arm (p) of chromosome 3 is duplicated so there is three copies of it rather than the normal two.[checkorphan.org]
  • Abstract Two profoundly mentally retarded brothers with partial trisomy for the distal part of the short arm of chromosome 3 (3p25 to 3pter) are described.[ncbi.nlm.nih.gov]
  • arm (p) of chromosome 3.[rarediseases.info.nih.gov]
Small Head
  • head) Gastrointestinal abnormalities Seizures Congenital heart defects Distinctive facial features (i.e. wide-spaced eyes, full cheeks, depressed nasal bridge, etc) Genital abnormalities Last updated: 5/18/2015 People with chromosome 3p duplication have[rarediseases.info.nih.gov]
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]
Hypertelorism
  • Compared with the other cases of partial 3p trisomy reported up to now, the present patients display a similar craniofacial dysmorphism with hypertelorism, broad nasal tip, short upper lip with prominent philtrum, and a large mouth with down-turned corners[ncbi.nlm.nih.gov]
  • Clinical features in these cases have included the following: lowset ears, mongoloid slant of eyes, hypertelorism, cleft palate, webbed neck, simian creases, short fingers, clinodactyly, hypotonia, and low-set hairline.[jamanetwork.com]
  • […] syndrome, resulting from the partial duplication of the short arm of chromosome 3, with highly variable phenotype principally characterized by craniofacial dysmorphism (incl. brachy-/microcephaly, square facies, frontal bossing, bitemporal indentation, hypertelorism[orpha.net]
  • 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]
  • Further, CNTN4 deletion has been associated with microcephaly, trigonocephaly, hypertelorism, growth retardation and ear abnormalities.[bmcmedgenet.biomedcentral.com]
Short Neck
  • The propositus had characteristic features of 3p trisomy such as square facies, temporal indentation, strabimus, depressed nasal bridge, prominent middle upper lip, carp mouth, micro- and retrognathia, short neck and hypoplastic penis.[jstage.jst.go.jp]
  • neck) associated with psychomotor delay, moderate to severe intellectual disability, cardiac (e.g. patent ductus arteriosus) and urogenital (e.g. renal hypoplasia, hypogenitalism) abnormalities, as well as seizures and presence of whorls on fingers.[orpha.net]
  • 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]
Frontal Bossing
  • Other stigmata, such as a prominent, high forehead with frontal bossing and full cheeks, were present during childhood but progressively disappeared.[ncbi.nlm.nih.gov]
  • […] trisomy 3p is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 3, with highly variable phenotype principally characterized by craniofacial dysmorphism (incl. brachy-/microcephaly, square facies, frontal[orpha.net]
High Forehead
  • Other stigmata, such as a prominent, high forehead with frontal bossing and full cheeks, were present during childhood but progressively disappeared.[ncbi.nlm.nih.gov]
Prominent Cheeks
  • […] phenotype principally characterized by craniofacial dysmorphism (incl. brachy-/microcephaly, square facies, frontal bossing, bitemporal indentation, hypertelorism/telecanthus, low-set and/or dysmorphic ears, short nose with broad, flat nasal bridge, prominent[orpha.net]
Seizure
  • […] chromosome 3p duplication vary but may include: [1] [2] Developmental delay Intellectual disability Hypotonia (poor muscle tone) Cleft lip and palate Behavioral problems Short stature Microcephaly (unusually small head) Gastrointestinal abnormalities Seizures[rarediseases.info.nih.gov]
Behavior Problem
  • Features that often occur in people with chromosome 3p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features.[rarediseases.info.nih.gov]

Treatment

  • Treatment - Chromosome 3- trisomy 3p Not supplied. Resources - Chromosome 3- trisomy 3p Not supplied.[checkorphan.org]
  • Chromosome 3p duplication can be de novo or inherited from a parent with a balanced translocation. [1] [2] Treatment is based on the signs and symptoms present in each person.[rarediseases.info.nih.gov]

Prognosis

  • Prognosis - Chromosome 3- trisomy 3p Not supplied. Treatment - Chromosome 3- trisomy 3p Not supplied. Resources - Chromosome 3- trisomy 3p Not supplied.[checkorphan.org]

Prevention

  • Prevention - Chromosome 3- trisomy 3p Not supplied. Diagnosis - Chromosome 3- trisomy 3p Not supplied. Prognosis - Chromosome 3- trisomy 3p Not supplied. Treatment - Chromosome 3- trisomy 3p Not supplied.[checkorphan.org]
  • There is nothing that a person can do to cause or prevent this duplication from happening. [1] [2] Last updated: 5/19/2015 Chromosome 3p duplication can be de novo or inherited from a parent with a balanced translocation. [1] [2] " De novo " duplications[rarediseases.info.nih.gov]

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