A rapid and noninvasive method for detecting tissue-limited mosaicism: detection of i(12)(p10) in buccal smear from a child with Pallister-Killian syndrome.
Pallister-Killian syndrome (PKS), a rare disorder, is characterized by tissue-limited or tissue-specific mosaicism. The characteristic chromosome abnormality associated with PKS is i(12p), which is seen predominantly in skin fibroblast cultures. Diagnosis of i(12p) has been carried out on buccal smears before and was shown to be an easy and feasible method. All previously published studies used alpha-satellite probes for the diagnosis and as such have several pitfalls. Our approach, using dual-color, locus-specific probes, has high specificity and sensitivity for the diagnosis of i(12p). Using statistical analysis, we have also confirmed that the signal pattern in interphase nuclei is consistent with isochromosome 12p.
Velagaleti
Gopalrao V N
GV
Department of Pediatrics, University of Texas Medical Branch, Suite #3.350 Children's Hospital, 301 University Boulevard, Galveston, TX 77555, USA. govelaga@utmb.edu
Tapper
Jill K
JK
Rampy
Bill A
BA
Zhang
Shuliu
S
Hawkins
Judy C
JC
Lockhart
Lillian H
LH
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics*; D000328:Adult; D002881:Chromosomes, Human, Pair 12; D015342:DNA Probes; D003627:Data Interpretation, Statistical; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D009061:Mouth Mucosa; D011247:Pregnancy; D012680:Sensitivity and Specificity; D016216:Ultrasonography, Prenatal
D015342:DNA Probes