Increasing role of cytogenetics in pediatric practice

Genetic Testing and Molecular Biomarkers
Seetha DayakarVimarsh Raina

Abstract

Karyotyping was done in 100 children suspected of having chromosomal abnormalities of genetically uncertain syndromes, multiple congenital anomalies, short stature, dysmorphic features, unclassified mental retardation, and Down syndrome. A total of 56 patients had an abnormal karyotype: ring chromosome of 13 was seen in 1 patient (1.78%), and trisomy 21 was seen in 29 patients (51.78%) who were diagnosed as Down syndrome patients. Among them, 9 were male patients (31.03%) (47,XY+21) and 18 were female patients (47,XX+21) (62.06%); 2 patients showed 47,XY+21/46,XY (mosaicism) (6.89%). Chromosomal rearrangements involving chromosome numbers 13, 14, and 21 were seen in three patients. Among them, one patient had t(13;21) [45,XX,t(13;21)] and two patients had 45,XY,t(14;21). Trisomy 22 was seen in three patients (5.3%), marker chromosome was seen in two patients (3.57%), 46,XY,16qh variant was seen in one patient (1.78%), 46,XX,der(2) was seen in one patient (1.78%), 46,XX,14ps+ was seen in two patients (3.57%), and 46,XY,r(18) was seen in three patients (5.37%). Apart from this, 11 patients (19.64%) had sex chromosome aberrations: 45,XO was seen in 3 patients (27.7%), 4 patients were mosaic for Turner syndrome (45,XO/46,XX) (36.36...Continue Reading

References

Mar 1, 1990·Indian Journal of Pediatrics·V C ShahS K Murthy
Oct 30, 1971·Lancet·M Seabright
Mar 1, 1967·The Journal of Pediatrics·S W WrightR Weinhouse
Apr 1, 1995·Journal of Tropical Pediatrics·R K KenueM S el-Bualy
Aug 1, 1994·Journal of Medical Genetics·T Webb

Citations

Dec 24, 2011·Genetic Testing and Molecular Biomarkers·Farmaditya E P MundhofirHelger G Yntema
May 17, 2011·Middle East African Journal of Ophthalmology·Luis A R Gabriel, Elias I Traboulsi
Dec 12, 2019·Human Reproduction Update·Nicholas A DeebelHooman Sadri-Ardekani

Methods Mentioned

BETA
chromosomal aberrations

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