Clinical and Genetic Profile of Children With Short Stature Presenting to a Genetic Clinic in Northern India

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dc.contributor.authorSingh, Kanikaen_US
dc.contributor.authorPuri, Ratna Duaen_US
dc.contributor.authorBijarnia-Mahay, Sunitaen_US
dc.contributor.authorLall, Meenaen_US
dc.contributor.authorVerma, Jyotsnaen_US
dc.contributor.authorSaxena, Renuen_US
dc.contributor.authorKohli, Sudhaen_US
dc.contributor.authorThomas, Divyaen_US
dc.contributor.authorSaviour, Pushpaen_US
dc.contributor.authorVerma, ICen_US
dc.date.accessioned2023-08-25T06:39:31Z
dc.date.available2023-08-25T06:39:31Z
dc.date.issued2022-06
dc.description.abstractObjective: To define the spectrum of genetic disorders in patients with short stature visiting the genetic out-patient department in a tertiary care hospital. Methods: A chart review was done for 455 individuals (10 months-16 yrs) with short stature, who were evaluated at the genetic clinic from 1 January, 2017 upto 31 October, 2018. 226 patients who needed detailed evaluation, the spectrum of genetic diagnosis is presented. Results: Proportionate short stature was identified in 63% individuals (n=142) of which 93 (65%) were recognizable syndromes such as Turner syndrome, and William syndrome, and RASopathies. In clinically undefined syndromes (39, 27%), a diagnosis could be made by karyotype (n=3/10), chromosomal microarray (6/12) and exome sequencing (1/6). In the 84 children in the disproportionate short stature group (37%), lysosomal storage disorders (LSDs) (45%, n=38) were identified by enzyme analysis in 86.8% and skeletal dysplasias (44%, n=37) identified by skeletal survey in 89% cases. Conclusions: In undefined syndromic short stature, chromosomal microarray may be the first investigation of choice if phenotyping is not suggestive of a specific genetic syndrome. Exome sequencing can be useful in identifying newer genes among idiopathic and familial short stature cohorts.en_US
dc.identifier.affiliationsInstitute of Medical Genetics and Genomicsen_US
dc.identifier.affiliationsCytogeneticsen_US
dc.identifier.affiliationsBiochemical Geneticsen_US
dc.identifier.affiliationsMolecular Genetics, Sir Ganga Ram Hospital, Rajinder Nagar, New Delhi.en_US
dc.identifier.citationSingh Kanika, Puri Ratna Dua, Bijarnia-Mahay Sunita, Lall Meena, Verma Jyotsna, Saxena Renu, Kohli Sudha, Thomas Divya, Saviour Pushpa, Verma IC. Clinical and Genetic Profile of Children With Short Stature Presenting to a Genetic Clinic in Northern India. Indian Pediatrics. 2022 Jun; 59(6): 463-466en_US
dc.identifier.issn0079-6061
dc.identifier.issn0974-7559
dc.identifier.placeIndiaen_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/225341
dc.languageenen_US
dc.publisherIndian Academy of Pediatricsen_US
dc.relation.issuenumber6en_US
dc.relation.volume59en_US
dc.source.urihttps://indianpediatrics.net/june2022/463.pdfen_US
dc.subjectChromosomal microarray analysisen_US
dc.subjectEtiologyen_US
dc.subjectExome sequencingen_US
dc.titleClinical and Genetic Profile of Children With Short Stature Presenting to a Genetic Clinic in Northern Indiaen_US
dc.typeJournal Articleen_US
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