The Clinical Diagnostic Utility of Array CGH in Children with Syndromic Microcephaly.

ABSTRACT:

Background

A prospective study using array CGH in children with Syndromic microcephaly from a tertiary pediatric healthcare centre in India.

Aim

To identify the copy number variations causative of microcephaly detected through chromosomal array CGH.

Patients and methods

Of the 60 patients, 33 (55%) males and 27 (45%) females who consulted the Rare Disease Clinic at Department of Pediatrics, SMS Medical College, Jaipur, with developmental delay/facial dysmorphism/congenital anomalies in combination with microcephaly were included.

Exclusion criteria

Children with acquired or non-genetic causes of microcephaly, craniosynostosis, metabolic diseases, known chromosomal aneuploidy such as trisomy 21, 13, and 18 and abnormal karyotype were excluded. The cohort was ana

SUBMITTER: Goyal M 

PROVIDER: S-EPMC9996492 | biostudies-literature | 2022 Nov-Dec

REPOSITORIES: biostudies-literature