Although the latter hypothesis is much less probable, it can not be rejected at the present time. [onlinelibrary.wiley.com]

Both patients had unbalanced karyotypes, with duplication of the distal third of the short arm of chromosome 2, resulting from the same balanced reciprocal translocation present in both mothers: der(2), t(2;7)(p23;q36) mat. [jamanetwork.com]

Also, both siblings reported by Martínez-Juárez et al. [2014] were presented by Quintana Palma et al. [2010] at the 35th annual meeting of the Mexican Society of Human Genetics. [karger.com]

When trisomy 2 mosaicism is detected during early pregnancy with chorionic villus sampling (CVS ), the affected cells may be confined only to the placenta, and not present in the fetus. [rarediseases.info.nih.gov]

In conclusion, chromosomal abnormality should be considered in children presenting with history of developmental delay and dysmorphic features. R. [hindawi.com]

• Fishing

  Cain CC, Saul DO, Oehler E, Blakemore K, Stetten G: Prenatal detection of a subtle unbalanced chromosome rearrangement by karyotyping, FISH and array comparative genomic hybridization. Fetal Diagn Ther 24:286-290 (2008). [karger.com]

  El cariotipo con bandas G y la hibridación in situ con fluorescencia (FISH) en cultivo de linfocitos mostraron la fórmula cromosómica: mos46,XX,der(8)(8qter 8p21::2p21 pter),9qh [52]/ 46,XX,9qh [82] y en fibroblastos se encontró el mismo mosaicismo en [medigraphic.com]

  De novo complete trisomy 5p: clinical report and FISH studies. Am J Med Genet. 1999;85:447-451. Lorda-Sanchez I, et al. Proximal partial 5p trisomy resulting from a maternal (19;5) insertion. Am J Med Genet. 1997;68:476-480. Fujita M, et al. [rarediseases.org]

• Multiple Congenital Anomalies

  Sarda P, Lefort G, Devaux P, Huneau C, Rieu D: Multiple congenital anomalies due to partial 2p13 2pter duplication resulting from an unbalanced X;2 translocation. Ann Genet 35:117-120 (1992). [karger.com]

  Multiple congenital anomalies due to partial 2p13----2pter duplication resulting from an unbalanced X;2 translocation. Ann Genet. 1992;35(2):117–120. [ncbi.nlm.nih.gov]

  One pregnancy was terminated in late second trimester of gestation as the fetus was found to have multiple congenital anomalies on antenatal ultrasound. [hindawi.com]

• Short Arm

  The occurrence of all these defects may be explained either by the action of the same gene(s) mapped to 2p24 or by action of some independent factors located in different segments of the short arm. [onlinelibrary.wiley.com]

  arm of chromosome 5 and the short arm of chromosomes 13,14,15,21,or 22). [rarediseases.org]

  Both patients had unbalanced karyotypes, with duplication of the distal third of the short arm of chromosome 2, resulting from the same balanced reciprocal translocation present in both mothers: der(2), t(2;7)(p23;q36) mat. [jamanetwork.com]

  Anterior segment mesenchymal dysgenesis associated with partial duplication of the short arm of chromosome 2. Can J Ophthalmol. 1991 Feb;26(1):35–43. [ncbi.nlm.nih.gov]

  Heathcote JG, Sholdice J, Walton JC, Willis NR, Sergovich FR: Anterior segment mesenchymal dysgenesis associated with partial duplication of the short arm of chromosome 2. Can J Ophthalmol 26:35-43 (1991). [karger.com]

• Frontal Upsweep of Hair

  Dysmorphic features included high bulging forehead with frontal upsweep of hair, flat, wide glabella and nasal bridge, maxillary hypoplasia, ptosis, dacryostenosis, dolichostenomelia, hyperextensible fingers with subluxation in proximal interphalangeal [jamanetwork.com]

• Suggestibility

  These facts suggest that trisomy 2p itself but not the associated imbalances are responsible for the origin of NTD. [karger.com]

  Report of two cases and review of the literature suggesting chromosomal loci responsible for the pathogenesis of this disease. [atlasgeneticsoncology.org]

  Ultrasound studies may reveal characteristic findings that suggest a chromosomal disorder or other developmental abnormalities in the fetus. [rarediseases.org]

  Some authors have suggested that periconceptional toxoplasma infection may play a role in occurrence of such association [4]. [hindawi.com]

• Hypertelorism

  Dysmorphic facial features included prominent forehead, large prominent ears with prominent antihelices, deep-set eyes, hypertelorism, bilateral corneal opacities, broad nose, thick everted lips, and high-arched palate. [hindawi.com]

  On physical examination, she was found to have microcephaly, open fontanelles, a prominent forehead, a flat occiput, hypertelorism, sparse eyebrows, a small nose with a depressed nasal bridge, a bulging philtrum, a thin upper lip, a high arched palate [ncbi.nlm.nih.gov]

  The eyes may be widely spaced (hypertelorism), have an upslant to them and the opening for the eye (palpebral fissure) may be small. There may also bevertical skin folds covering the eyes’ inner corners (epicanthal folds). [rarediseases.org]

• Depressed Nasal Bridge

  On physical examination, she was found to have microcephaly, open fontanelles, a prominent forehead, a flat occiput, hypertelorism, sparse eyebrows, a small nose with a depressed nasal bridge, a bulging philtrum, a thin upper lip, a high arched palate [ncbi.nlm.nih.gov]

  The eyebrows may be sparse and a depressed nasal bridge may be present, with a broad nasal tip and the nose itself may be short. [rarediseases.org]

• Seizure

  Abnormal episodes of uncontrolled electrical activity in the brain (seizures) are frequently reported and the seizures may require multiple medications. [rarediseases.org]

  Molecular cytogenetic analysis of a familial 8p23.1 deletion associated with minimal dysmorphic features, seizures, and mild mental retardation. Hum Genet 1992; 89: 602-6. [medigraphic.com]

• Delayed Bone Age

  Blassnig-Ezeh A, Bandelier C, Frühmesser A, Revencu N, Krabichler B, et al: Severe growth retardation, delayed bone age, and facial dysmorphism in two patients with microduplications in 2p16 p22. Am J Med Genet A 161A:3176-3181 (2013). [karger.com]

• Occipital Encephalocele

  Neural tube defects (anencephaly, occipital encephalocele, and spina bifida) were found in five probands and 4/6 affected non‐karyotyped sibs. The only triplicated segment common to all was 2p24. [onlinelibrary.wiley.com]

What is the treatment for trisomy 18? The treatment and management of children with Edwards syndrome is dependent upon the severity of findings. [medicinenet.com]

Standard Therapies Treatment The treatment of trisomy 5p is directed toward the specific symptoms exhibited by the individual. [rarediseases.org]

Prognosis Trisomy 2 may define a distinct subtype of MDS, which in combination with further clonal chromosomal changes gives rise to AML. Further cases need to be collated to substantiate this. [atlasgeneticsoncology.org]

Additional cases are needed to delineate the epidemiology of this rare entity: you are welcome to submit a paper to our new Case Report section. Cytogenetic analysis in patients with primary myelodysplastic syndromes in leukaemic transformation. [atlasgeneticsoncology.org]

Treatment may also include measures to help prevent or aggressively treat respiratory infections. Other treatment is symptomatic and supportive. Early intervention is important to ensure that children with trisomy 5p reach their potential. [rarediseases.org]