Abstract
The 18q deletion syndrome is among one of the commonest cytogenetic abnormalities with an incidence of 1 in 40000 live births without any ethnic predilection. Here we a present a with multiple dysmorphic features like micrognathia, large forehead, flat midface, hypertelorism, prominent antihelix, moon face with full cheeks were recognized, flat nasal bridge, thin lips and short neck and overlapping of the fingers. A MRI brain was done which showed enlarged ventricle with abnormal signal intensities in bilateral frontal and periventricular region. High resolution and G-banding chromosome analysis using peripheral lymphocytes was performed due to her many symptoms, which revealed a unique karyotype of 46, XX, del 18q3.1.
References
1. 1. CODY JD, PIERCE JF, BRKANAC Z, PLAETKE R, GHIDONI PD, KAYE CI, LEACH RJ. Preferential loss of the paternal alleles in the 18q- syndrome. Am J Med Genet 1997; 69: 280-286.
2. TINKLE BT, CHRISTIANSON CA, SCHORRY EK, WEBB T, HOPKIN RJ. Long-term survival in a patient with del(18)(q12.2q21.1). Am J Med Genet A 2003; 119A: 66-70.
3. ENGELEN JJ, LOOTS WJ, ALBRECHTS JC, PLOMP AS, VAN DER MEER SB, VLES JS, HAMERS GJ, GERAEDTS JP. Characterization of a de novo unbalanced translocation t(14q18q) using microdisse-ction and fluorescence in situ hybridiza-tion. Am J Med Genet 1998; 75: 409-413.
4. SCHINZEL A, BINKERT F, LILLINGTON DM, SANDS M, STOCKS RJ, LINDENBAUM RH, MATTHEWS H, SHERIDAN H. Interstitial deletion of the long arm of chromosome 18, del(18) (q12.2q21.1): a report of three cases of an autosomal deletion with a mild phenotype. J Med Genet 1991; 28: 352-355.
5. WILSON MG, LIN MS. Prenatal diagnosis of mosaicism for del (18)(q12.2q21.1) and a normal cell line. J Med Genet 1988; 25: 635-636.
6. KOTZOT D, HABERLANDT E, FAUTH C, BAUMGARTNER S, SCHOLL-BÜRGI S, UTERMANN G. Del(18)(q12.2q21.1) caused by a paternal sister chromatid rearrangement in a developmentally delayed girl. Am J Med Genet A 2005; 135: 304-307
Corresponding Author
Dr Syed M Azad
ICH, Kolkata
DOI: https://dx.doi.org/10.18535/jmscr/v4i12.72
