title: Maternal origin of extra marker chromosome 1Q31.1-qter and 13pter-q12.12 in a child with dysmorhic features.
abstract: Maternal origin of extra marker chromosome Iq31.l-qter and 13pter-q12.12 in a child with dysmorphic features: We describe a twenty-days-old female child with dysmorphic features and chromosomal analysis with GTG-banding revealed an extra marker chromosome. Fluorescence in situ hybridization (FISH) study of extra marker chromosome confirmed to be maternal der(13) chromosome, contained 1q31.1-qter and 13pter-q11 chromosomal material and resulted from a maternal balanced translocation t(1;13)(q31.1; q12.12). The child had the majority of trisomy 1q clinical features: dysmorphic features, micropthalmia, high arched palate, long philthrum, micrognathia, hypertelorism, low set ears, short sternum, overlapping fingers, valgus of wrists, right knee and ankle joints were in flexion contractures. This is the first case of trisomy 1q with an extra marker chromosome which also contained chromosome 13pter-q12.12 material.
authors.affiliation: Institute of Immunohaematology (ICMR) 13th Floor, New multistoryed building, K.E.M. Hospital Campus, Parel, Mumbai-12, India. vbaburao@hotmail.com
authors.forename: V B
authors.initials: VB
authors.lastname: Rao
authors.forename: L
authors.initials: L
authors.lastname: Kerketta
authors.forename: S
authors.initials: S
authors.lastname: Korgaonkar
authors.forename: K
authors.initials: K
authors.lastname: Ghosh
authors.forename: D
authors.initials: D
authors.lastname: Mohanty
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002871:Chromosome Banding; D002878:Chromosomes, Human, Pair 1; D002882:Chromosomes, Human, Pair 13; D019465:Craniofacial Abnormalities / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D005819:Genetic Markers / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005838:Genotype; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007621:Karyotyping; D009035:Mothers; D014178:Translocation, Genetic / Q000235:genetics; D014314:Trisomy
chemical_list: D005819:Genetic Markers