Distal interstitial 1p36 deletion syndrome in a case of global developmental delay with multiple congenital malformations

We report a 1-year-old girl child with a global developmental delay with multiple congenital malformations who presented with the abnormalities including postnatal growth failure, feeding difficulties, seizures, developmental delay, cardiovascular malformations, microcephaly, vertebral segmental defects in the cervical region, Hirschsprung disease, corpus callosal hypoplasia, bilateral fifth finger clinodactyly, and dysmorphic features, including the frontal and parietal bossing, posteriorly rotated ears, hypertelorism, straight eyebrows, and a prominent, upturned broad nose with a long philtrum were noticed. Owing to global developmental delay and multiple congenital malformations, the first-line diagnostic test considered was chromosomal microarray, and it revealed a pathogenic copy number variation in chromosome 1, short arm, 7.3Mb deletion from segment 1p36.32 to 1p36.22. It is a descriptive study undertaken for clinical characteristics and diagnostic evaluation in a girl with global developmental and multiple congenital malformations. The phenotypic features described in our patient could be matched with the genotype on microarray evaluation and were comparable with various studies recorded in literature.