title: Angelman syndrome and prenatally diagnosed Prader-Willi syndrome in first cousins.
abstract: Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are caused by loss of function of imprinted genes in the 15q11-13 critical region. Reports of PWS and AS in close relatives within the same family are rare. We report on the diagnosis of a familial unbalanced 10;15 translocation causing AS in a child that led to the prenatal diagnosis of an unbalanced 10;15 translocation with resultant deletion of the Prader-Willi critical region in her maternal uncle's offspring.
authors.affiliation: Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India.
authors.forename: Prajnya
authors.initials: P
authors.lastname: Ranganath
authors.forename: Meenal
authors.initials: M
authors.lastname: Agarwal
authors.forename: Shubha R
authors.initials: SR
authors.lastname: Phadke
mesh_terms: D059786:Abnormal Karyotype; D000028:Abortion, Induced; D000328:Adult; D017204:Angelman Syndrome / Q000175:diagnosis* / Q000235:genetics; D002503:Centromere / Q000235:genetics; D002872:Chromosome Deletion; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D007223:Infant; D007399:Interphase; D010375:Pedigree; D011218:Prader-Willi Syndrome / Q000175:diagnosis* / Q000235:genetics; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis; D014178:Translocation, Genetic