INTERNATIONAL JOURNAL OF SCIENTIFIC DEVELOPMENT AND RESEARCH International Peer Reviewed & Refereed Journals, Open Access Journal ISSN Approved Journal No: 2455-2631 | Impact factor: 8.15 | ESTD Year: 2016
open access , Peer-reviewed, and Refereed Journals, Impact factor 8.15
Hasila M M
, Mohammed Jaseel M , LakshmiDevi B P , Dr. Chitra Hasini , Dr. Namratha Dumthi
Unique Id:
IJSDR2402086
Published In:
Volume 9 Issue 2, February-2024
Abstract:
William’s syndrome (WS) is a neuro-developmental, multi-system genetic disorder characterized by distinctive personality traits. It is characterized by congenital heart defects (CHD), Skeletal and renal anomalies, cognitive disorder, social personality disorder, endocrine abnormalities, dental abnormalities, dysmorphic facies and growth retardation. FISH test is the confirmatory diagnostic test for Williams Syndrome which demonstrates the deletion of chromosomes 7q11.23.
Keywords:
Williams Syndrome (WS), Dysmorphism, Mental retardation, elf-like face, FISH test, Gene mapping.
Cite Article:
"Williams Syndrome: A Case Report", International Journal of Science & Engineering Development Research (www.ijsdr.org), ISSN:2455-2631, Vol.9, Issue 2, page no.560 - 562, February-2024, Available :http://www.ijsdr.org/papers/IJSDR2402086.pdf
Downloads:
000338720
Publication Details:
Published Paper ID: IJSDR2402086
Registration ID:210182
Published In: Volume 9 Issue 2, February-2024
DOI (Digital Object Identifier):
Page No: 560 - 562
Publisher: IJSDR | www.ijsdr.org
ISSN Number: 2455-2631
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