Features of trisomy 2 mosaicism may include intrauterine growth restriction (IUGR), any of various birth defects, distinctive facial features, growth delay, developmental delays, and intellectual disabilities .[1][2] However, children with trisomy 2 mosaicism [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]

Babies born with trisomy 18 have distinct clinical features, including developmental delay and craniofacial, limb, heart, and kidney abnormalities. [medicinenet.com]

Oexle, Konrad, et al. 3.7 Mb tandem microduplication in chromosome 5p13.1-p13.2 associated with developmental delay, macrocephaly, obesity, and lymphedema. Further characterization of the dup (5p13) syndrome. [rarediseases.org]

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]

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]

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]

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]

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]

A recognisable behavioural phenotype associated with terminal deletions of the short arm of chromosome 8. Am J Med Genet 1997; 74: 515-20. Dobnys W, Dewld G, Carlson R, Mair D, Michels V. [medigraphic.com]

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]

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]

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]

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]

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]

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]

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]