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Table of Contents    
Year : 2020  |  Volume : 68  |  Issue : 5  |  Page : 1244-1245

It is in the face - Have a relook!

Department of Pediatrics, Genetics and Metabolics Unit, Advanced Pediatric Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India

Date of Web Publication27-Oct-2020

Correspondence Address:
Dr. Anupriya Kaur
Department of Pediatrics, Genetics and Metabolics Unit, Advanced Pediatric Centre, Post Graduate Institute of Medical Education and Research, Chandigarh - 160 012
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0028-3886.299146

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How to cite this article:
Endrakanti M, Kaur A, Panigrahi I, Pandiarajan V. It is in the face - Have a relook!. Neurol India 2020;68:1244-5

How to cite this URL:
Endrakanti M, Kaur A, Panigrahi I, Pandiarajan V. It is in the face - Have a relook!. Neurol India [serial online] 2020 [cited 2020 Nov 30];68:1244-5. Available from:


We describe three children with intellectual disability (ID), whose cytogenetic testing revealed 47, XXX, chromosome 9 and 12 subtelomeric deletions and on reverse phenotyping were noted to have subtle dysmorphic features consistent with these cytogenetic abnormalities. “The eyes see what the mind knows” held true with the diagnosis of ID in these children and prompted us to write these cases.

A 10-year-old girl underwent karyotyping revealing 47, XXX chromosomes. On reanalysis, she was noted to have delayed attainment of major motor milestones in early childhood, relatively poor social communication skills and subtle facial dysmorphism in the form of epicanthic folds, hypertelorism, and mild upslant of eyes [Figure 1]. Chromosomal microarray analysis (CMA) of a 5-year-old boy being worked up in the outpatient clinics since the age of 8 months in view of developmental delay finally revealed a heterozygous deletion of chromosome 9q34.3 cytoband region of 833 kbp, suggestive of Kleefstra syndrome. His behavioral and facial phenotype [Figure 2] was also noted to be similar to that of Kleefstra syndrome. The third child was a 10-year-old girl brought to medical attention in view of poor scholastic performance. She had subtle facial dysmorphism [Figure 3] and her CMA revealed a deletion on 12q24.33 spanning 3,674 kbp.
Figure 1: A 10-year-old girl with 47, XXX karyotype. Appreciate the subtle dysmorphism in terms of epicanthic folds, upslant of eyes and hypertelorism

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Figure 2: Case 2 diagnosed with Kleefstra syndrome. Note the straight thick eyebrows, mild hypertelorism, and short downturned upper lip

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Figure 3: (a and b) Case 3 - Appreciate the dysmorphism in the form of low set anteverted ears with smooth helix, sparse lateral eyebrows, smooth downturned upper lip, and short neck. Chromosomal microarray showed 12q24.33 deletion

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Several rarer but recurrent phenotypes of ID are being delineated with the advent of newer diagnostic molecular techniques. The first case is an example of a numerical chromosomal abnormality detected by conventional karyotyping. Deletions/duplications smaller than ~ 10 Mbp are missed by conventional karyotyping. Here comes the role of higher resolution “molecular cytogenetic” techniques such as CMA[1].

Kleefstra syndrome is now a well-defined entity with ~120 cases published and a core phenotype being described.[2] Deletions <3 Mbp often have a classical phenotype.[3] Our case had many core phenotypic features such as hypotonia in infancy, facies showing thick straight eyebrows, and a bow-shaped upper lip and autistic features well described in this syndrome. The third case having 12q24.3 deletion is a very rare cause of ID. Our case had a ~3.6 Mbp deletion with inclusion of all the suggested candidate genes.[4]

Chromosomal abnormalities are an important cause of ID. CMA has replaced karyotyping as a first tier test in the work up for ID.[5] A dysmorphologist and genetic opinion, when sought early in the course of evaluation of children with subtle dysmorphic features with ID, may help to avoid unnecessary investigations for ID.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

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Conflicts of interest

There are no conflicts of interest.

  References Top

Panigrahi I, Jain P, Didel S, Agarwal S, Muthuswamy S, Saha A, et al. Identification of microdeletion and microduplication syndromes by chromosomal microarray in patients with intellectual disability with dysmorphism. Neurol India 2018;66:1370-6.  Back to cited text no. 1
[PUBMED]  [Full text]  
Willemsen MH, Vulto-van Silfhout AT, Nillesen WM, Wissink-Lindhout WM, van Bokhoven H, Philip N, et al. Update on Kleefstra syndrome. Mol Syndromol 2012;2:202-12.  Back to cited text no. 2
Yatsenko SA, Cheung SW, Scott DA, Nowaczyk MJ, Tarnopolsky M, Naidu S, et al. Deletion 9q34.3 syndrome: Genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly. J Med Genet 2005;42:328-35.  Back to cited text no. 3
Niyazov DM, Nawaz Z, Justice AN, Toriello HV, Martin CL, Adam MP. Genotype/phenotype correlations in two patients with 12q subtelomere deletions. Am J Med Genet A 2007;143A:2700-5.  Back to cited text no. 4
Miller DT1, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 2010 May 14;86:749-64.  Back to cited text no. 5


  [Figure 1], [Figure 2], [Figure 3]


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