title: Cornelia de Lange syndrome: a case study.
abstract: Cornelia de Lange syndrome (CDLS) is a relatively common multiple congenital anomaly/mental retardation disorder with an unknown genetic and molecular pathogenesis. The essential features of this developmental malformation syndrome are retardation in growth, developmental delay, various structural limb abnormalities, and distinctive facial features. Most cases are sporadic and are thought to result from a new dominant mutation. Consequently, hypotheses regarding the pathogenetic mechanisms underlying the two distinct phenotypes, classic and mild, are purely speculative. The recent discovery of molecular techniques and identification of the NIPBL gene has allowed etiologic diagnosis of this disorder. In this article, we describe a patient with CDLS in whom conventional cytogenetics, fluorescence in situ hybridization, and NIPBL gene mutation analysis determined an etiologic diagnosis, providing precise genetic counseling and facilitated the family to make an evidence-based decision for conception and also alleviated the extreme degree of anxiety associated with the thought of having a second child in this set of circumstances.
authors.affiliation: Molecular Biology & Immunology Lab, Indraprastha Apollo Hospitals, Saritha Vihar, New Delhi, India.
authors.forename: Goud Iravathy
authors.initials: GI
authors.lastname: Kalal
authors.forename: Vimarsh P
authors.initials: VP
authors.lastname: Raina
authors.forename: Veerabhadra S
authors.initials: VS
authors.lastname: Nayak
authors.forename: Pooja
authors.initials: P
authors.lastname: Teotia
authors.forename: Bhushan V
authors.initials: BV
authors.lastname: Gupta
mesh_terms: D018797:Cell Cycle Proteins; D002648:Child; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics; D003582:Cytogenetics; D004252:DNA Mutational Analysis; D003635:De Lange Syndrome / Q000175:diagnosis / Q000209:etiology / Q000235:genetics*; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D010375:Pedigree; D011506:Proteins / Q000235:genetics
chemical_list: D018797:Cell Cycle Proteins; C487465:NIPBL protein, human; D011506:Proteins