Monosomy 1p36: Report of a cohort of 13 Asian Indian patients.
Neerja GuptaRavneet KaurShubha Rao PhadkePankaj SharmaSheela NampoothiriDeepti SaxenaMadhulika KabraPublished in: American journal of medical genetics. Part A (2022)
Monosomy 1p36 is one of the common microdeletion syndromes with a recognizable facial phenotype. Failure to thrive, developmental delay, congenital heart disease, and other abnormalities are common in these patients. This is the first study on Asian Indian patients with monosomy 1p36, documenting the phenotypic characteristics of 13 patients, indicating phenotypic similarities in a diverse population and broadening the clinical spectrum.