Angelman syndrome and prenatally diagnosed Prader–Willi syndrome in first cousins

• Published in: American journal of medical genetics. Part A Vol. 155; no. 11; pp. 2788 - 2790
• Main Authors: Ranganath, Prajnya, Agarwal, Meenal, Phadke, Shubha R.
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01-11-2011; Wiley-Liss; Wiley Subscription Services, Inc
• Subjects: Abnormal Karyotype; Abortion, Induced; Adult; Angelman syndrome; Angelman Syndrome - diagnosis; Angelman Syndrome - genetics; Biological and medical sciences; Centromere - genetics; chromosome 15; Chromosome aberrations; Chromosome Deletion; Chromosomes, Human, Pair 10 - genetics; Chromosomes, Human, Pair 15 - genetics; Complex syndromes; familial translocation; Female; Genetic Counseling; Humans; Infant; Interphase; Malformations of the nervous system; Medical genetics; Medical sciences; Metabolic diseases; Neurology; Obesity; Pedigree; Prader-Willi syndrome; Prader-Willi Syndrome - diagnosis; Prader-Willi Syndrome - genetics; Pregnancy; Pregnancy Trimester, Second; Prenatal Diagnosis; Progeny; Translocation; Translocation, Genetic; Chromosomal aberration; Endocrinopathy; Nervous system diseases; Prader-Willi syndrome; Family study; Diseases of the osteoarticular system; Happy puppet syndrome; Congenital disease; Genetic disease; Cerebral disorder; Prenatal; familial translocation; Angelman syndrome; Malformation; Central nervous system disease; Abnormal chromosome; Diagnosis; Complex syndrome; prenatal diagnosis; Prader Labhart Willi syndrome; Chromosome translocation
• ISSN: 1552-4825; 1552-4833; 1552-4833
• DOI: 10.1002/ajmg.a.34234

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. © 2011 Wiley Periodicals, Inc.